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Category Archives: Anthropology
The Origins of Zana of Abkhazia
Posted on July 30, 2021 by Roberta Estes
Recently, Margaryan et al published a paper titled The genomic origin of Zana of Abkhazia.
Margaryan was the lead author on the 2020 paper, the Population genomics of the Viking world. I wrote about that in the article, 442 Ancient Viking Skeletons Hold DNA Surprises – Does Your Y or Mitochondrial DNA Match?
Why are people interested in the origins of Zana? Who was Zana?
Zana was initially believed to have been a member of a group of Afro-Abkhazian people who lived in the Caucasus in the later 1800s.
Known as the African Caucasians, the Abkhazians of African descent lived in and near the settlement of Adzyubzha on the east coast of the Black Sea.
By Unknown author – livejournal.com, Public Domain, https://commons.wikimedia.org/w/index.php?curid=8701583
This photo of an Afro-Abkhazian family is from "Caucasus. Volume I. The peoples of the Caucasus", St. Petersburg., Kovalevsky P. I., 1914.
It's uncertain how this group of African people came to live in this region, but they seem to have arrived when the region was under the rule of the Ottoman Empire in the 1600s, possibly as slaves to work the citrus plantations. In 1927, two Russian men visited the village and met elderly Africans. The Russian men felt that an Ethiopian version of their arrival story was likely accurate since there were several parallels between the names of the villages in Ethiopia and the Afro-Abkhazian villages.
By the 1800s, they spoke only the northwest Caucasian Abkhaz language.
The origins of Zana herself are cloaked in myth. One thing is for certain. Zana was exploited horribly.
How much of the story of Zana's origins is accurate, and how much was concocted to justify her subsequent treatment is unknown.
Zana was reportedly living wild and naked in the forest in the Caucasus region. These mountains had long been rumored to hold creatures similar to Bigfoot, called Almasty in Russia.
The story goes that a traveling noble merchant, possibly Edgi Genaba, heard about an apewoman living in the forest and paid the local men to capture this poor creature sometime between 1850 and 1870. The locals forced her into a spike-lined pit.
The nobleman paid the men, named his captive Zana, shackled her, took her home, and enclosed Zana in a cage where she dug a hole in which to sleep. A slightly different version of the story says that Zana was sold from man to man until Genaba bought her.
Zana was apparently covered in thick red hair, powerfully muscular and at 6 feet 6 inches in height, towering over the local residents. When given clothes, she reportedly would shred them.
Genaba charged people who would come and gawk at the naked caged "apewoman" who could not or did not speak.
Zana did not try to escape and eventually, she was granted some reprieve by "only" being chained to a fence.
Eventually, Zana was taught to do chores and in essence, became a servant. She was also provided with alcohol. The local men repeatedly raped Zana while she was drunk.
Zana reportedly had a total of 6 children by unknown local men, although only four can be relatively assured and two proven. Zana apparently took the first two babies to a river to wash them, but the children died. After that, the local women took the following four children away from Zana to protect them since she apparently didn't understand how to care for an infant.
None of Zana's children had her thick hair. They all spoke normally and had families. Pictures remain of two of her children, a daughter, Kodzhanar and a son, Khwit. You can see photos of Kodzhanar, Khwit and Khwit's children, here, in a supplement to the paper.
Zana died after living in captivity for about 20 years, having been taken advantage of, first by Genaba and eventually, by the village men as well.
But Zana's exploitation didn't even end there.
Dr. Bryan Sykes, once a respected geneticist, in his later years, became a Bigfoot hunter. After analyzing DNA evidence from Zana's granddaughter and relatives, along with the remains of her son, Sykes suggested that Zana belonged to a "sub-species of modern humans," and called her "half human and half ape," according to a Daily Mail article published in April of 2015. Sykes published a book in 2015, whose title I refuse to print, in which he suggests that Zana's ancestors exited Africa 100,000 years before and she and her ancestors had, in essence, become a Caucuses Bigfoot – or Almasty in the local vernacular. However, Sykes also states that Zana was 100% African, had genes from west Africa, yet resembled no west African group of people. If you're scratching your head saying to yourself that those things are contradictory – you'd be right.
Thankfully, Margaryan has now published a respectful academic paper about Zana.
The genomic origin of Zana of Abkhazia
Margaryan paper abstract:
Enigmatic phenomena have sparked the imagination of people around the globe into creating folkloric creatures. One prime example is Zana of Abkhazia (South Caucasus), a well-documented 19th-century female who was captured living wild in the forest. Zana's appearance was sufficiently unusual, that she was referred to by locals as an Almasty—the analog of Bigfoot in the Caucasus. Although the exact location of Zana's burial site was unknown, the grave of her son, Khwit, was identified in 1971. The genomes of Khwit and the alleged Zana skeleton were sequenced to an average depth of ca. 3× using ancient DNA techniques. The identical mtDNA and parent-offspring relationship between the two indicated that the unknown woman was indeed Zana. Population genomic analyses demonstrated that Zana's immediate genetic ancestry can likely be traced to present-day East-African populations. We speculate that Zana might have had a genetic disorder such as congenital generalized hypertrichosis which could partially explain her strange behavior, lack of speech, and long body hair. Our findings elucidate Zana's unfortunate story and provide a clear example of how prejudices of the time led to notions of cryptic hominids that are still held and transmitted by some today.
Hypertrichosis
Hypertrichosis, also known as "werewolf syndrome" is an extremely rare condition in which an abnormal amount of hair grows on the body. While this condition can develop later in life, it can also be congenital, or present at birth.
In some cases, hair grows all over the body, but in others, only grows in some places.
While Zana's hair growth suggests hypertrichosis, Zana may have had other challenges as well given that she was nonverbal.
In medieval times, people who suffered from hypertrichosis often lived in courts and functioned as entertainers. In the 19th and 20th centuries, you could find them as performers in circuses and sideshows.
Congenital hypertrichosis, present from birth, can be inherited.
Petrus Gonsalvus, born in 1537 and referred to as "the man of the woods" spent his life in royal courts in Italy and France. He had seven children, four of whom apparently inherited the mutation for this condition from Petrus.
Petrus and his children with excessive hair, two of whom are shown above, were not considered fully human, although their court life allowed them to be well documented.
Petrus married Lady Catherine and their story may have been at least a part of the inspiration for the fairy tale, Beauty and the Beast, published in 1740, 122 years after Petrus's death.
Zana's Son, Khwit's Y DNA
Due to Zana's circumstances, we have no idea who Khwit's father was. Khwit and the father himself may have not known either, given how Zana was treated by the local men who raped her. Furthermore, Zana's children were taken from her and she was non-verbal, so even if she did know, she couldn't have told her children.
Khwit's Y DNA provides tantalizing clues.
FamilyTreeDNA's analysis of Zana's son, Khwit's Y chromosome places him in the R-Z2103 subclade of R1b associated with the Yamnaya culture, and more specifically on branch R-Y4364 which has its highest frequency in the Caucasus.
You can see that the flags beside the subgroups above R-FTA50400 are all represented in the Caucasus region; Armenia, Russian Federation, Turkey, and the Palestinian Territory. They also reach into the surrounding areas: Italy, Poland, Greece, Germany, and then beneath Khwit's branch, we find Scotland represented by subclade R-FTA49702. Khwit and the man from Scotland share 14 variants that branch subclade R-FTA50400 from R-FGCLR459.
Scotland? Well, that's unexpected.
Looking at the block tree, below, you can see that while the two men are related back in time, it's distant and they are separated by many private variants.
How long ago did the common ancestor of Khwit and the Scotsman live?
Goran Runfeldt, Head of Research and Development at FamilyTreeDNA, indicated that an early estimate would be that the common ancestor of Khwit's father and the tester from Scotland would have lived in the Caucasus about 2200 years ago.
He stated that additional Big Y-700 testing is underway and a more definitive MRCA date may be able to be established.
Zana's Mitochondrial DNA
Of course, Zana's children all carried her mitochondrial DNA. Her daughters passed Zana's mitochondrial DNA on to their children as well.
Fortunately, Zana's mitochondrial DNA helps reassemble the pieces of Zana's history.
I reached out to Dr. Miguel Vilar, a member of the Million Mito team member in the hope of revealing more of Zana's puzzle. Dr. Villar is a molecular anthropologist at UMD and former lead scientist for the Genographic Project.
Dr. Vilar offered:
The DNA data and old stories together paint a very sad picture for the historical figure of Zana. The PCA plot of the autosomal DNA suggests she was genetically related to the Dinka pastoralist people from South Sudan, a marginalized group known to be above average in height and body size. Further, Zana's mtDNA results place her on a basal branch of L2b1b, which geographically would align with an East Central African origin.
The combination of Zana's height, body size, hair, and (apparent) inability to speak certainly advanced or at least fostered the story of Zana not being human.
Unfortunately, these combined features seemed to justify the non-human treatment of Zana by the local residents, particularly the men.
Contemporary DNA analysis proves Zana was fully human with African origins. She was not admixed with non-African DNA. How she or her family came to the Caucasus, or when, is unknown, but it likely has to do with the Ottoman Empire slave trade that began in the 16th century. The legend of Zana has probably grown and changed with time and retelling.
Clearly, Zana's original situation and later exploitation have been an ethical quagmire.
The authors of the Zana paper perhaps sum this up best:
Following her capture in the forest, Zana was deprived of her basic human rights, and treated as a slave: she was kept in captivity, likely forced to have sexual relations with local men, and worked in forced labor conditions. After she passed away, the accounts on her mythical figure attracted several scientists to unearth her story and her son's bones were exhumed. Our study intends both to reveal the true human nature of Zana and grant her and her descendants' remains the dignity they deserve.
Zana's story isn't over. Additional testing and analysis are being performed. Based on those findings, if any, we may be able to add another chapter to Zana's story.
Zana, like everyone else, deserves the truth, even if unraveled and told posthumously. We can't right the historical wrongs today, but at least we can correct the record.
FamilyTreeDNA – Y, mitochondrial and autosomal DNA testing
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23andMe Ancestry – Autosomal DNA only, no Health
Genealogy Products and Services
MyHeritage FREE Tree Builder – Genealogy software for your computer
Legacy Family Tree Webinars – Genealogy and DNA classes, subscription-based, some free
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Charting Companion – Charts and Reports to use with your genealogy software or FamilySearch
RootsMagic Software – Genealogy software for your computer
Newspapers.com – Search newspapers for your ancestors
Genealogical.com – Lots of wonderful genealogy research books
Legacy Tree Genealogists – Professional genealogy research
Posted in Ancient DNA, Anthropology, Autosomal, History, Mitochondrial DNA, Y DNA, Y-700 | 15 Replies
Y DNA Resources and Repository
Posted on January 2, 2021 by Roberta Estes
I've created a Y DNA resource page with the information in this article, here, as a permanent location where you can find Y DNA information in one place – including:
Step-by-step guides about how to utilize Y DNA for your genealogy
Educational articles and links to the latest webinars
Articles about the science behind Y DNA
Ancient DNA
Please feel free to share this resource or any of the links to individual articles with friends, genealogy groups, or on social media.
If you haven't already taken a Y DNA test, and you're a male (only males have a Y chromosome,) you can order one here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.
What is Y DNA?
Y DNA is passed directly from fathers to their sons, as illustrated by the blue arrow, above. Daughters do not inherit the Y chromosome. The Y chromosome is what makes males, male.
Every son receives a Y chromosome from his father, who received it from his father, and so forth, on up the direct patrilineal line.
Comparatively, mitochondrial DNA, the pink arrow, is received by both sexes of children from the mother through the direct matrilineal line.
Autosomal DNA, the green arrow, is a combination of randomly inherited DNA from many ancestors that is inherited by both sexes of children from both parents. This article explains a bit more.
Y DNA has Unique Properties
The Y chromosome is never admixed with DNA from the mother, so the Y chromosome that the son receives is identical to the father's Y chromosome except for occasional minor mutations that take place every few generations.
This lack of mixture with the mother's DNA plus the occasional mutation is what makes the Y chromosome similar enough to match against other men from the same ancestors for hundreds or thousands of years back in time, and different enough to be useful for genealogy. The mutations can be tracked within extended families.
In western cultures, the Y chromosome path of inheritance is usually the same as the surname, which means that the Y chromosome is uniquely positioned to identify the direct biological patrilineal lineage of males.
Two different types of Y DNA tests can be ordered that work together to refine Y DNA results and connect testers to other men with common ancestors.
FamilyTreeDNA provides STR tests with their 37, 67 and 111 marker test panels, and comprehensive STR plus SNP testing with their Big Y-700 test.
STR markers are used for genealogy matching, while SNP markers work with STR markers to refine genealogy further, plus provide a detailed haplogroup.
Think of a haplogroup as a genetic clan that tells you which genetic family group you belong to – both today and historically, before the advent of surnames.
This article, What is a Haplogroup? explains the basic concept of how haplogroups are determined.
In addition to the Y DNA test itself, Family Tree DNA provides matching to other testers in their database plus a group of comprehensive tools, shown on the dashboard above, to help testers utilize their results to their fullest potential.
You can order or upgrade a Y DNA test, here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.
Step-by-Step – Using Your Y DNA Results
Y DNA: Part 1 – Overview
Let's take a look at all of the features, functions, and tools that are available on your FamilyTreeDNA personal page.
Y DNA: Part 2 – The Dictionary of DNA
What do those words mean? Here you go!
Y DNA: Step-by-Step Big Y Analysis
Come along while I step through evaluating Big Y test results.
Big Y Testing and Results
The Big Y and Genealogy
Why would you want to take a Big Y test and how can it help you?
Why the Big Y Test?
While the Big Y-500 has been superseded by the Big Y-700 test today, you will still be interested in some of the underlying technology. STR matching still works the same way.
Big Y-500 STR Matching
The Big Y-500 provided more than 500 STR markers and the Big Y-700 provides more than 700 – both significantly more than the 111 panel. The only way to receive these additional markers is by purchasing the Big Y test.
The Big Y Test Increases Again to Big Y-700
I have to tell you – I was skeptical when the Big Y-700 was introduced as the next step above the Big Y-500. I almost didn't upgrade any kits – but I'm so very glad that I did. I'm not skeptical anymore.
Family Tree DNA's New Big Y Block Tree
This Y DNA tree rocks. A new visual format with your matches listed on their branches. Take a look!
I've been writing about DNA for years and have selected several articles that you may find useful.
Working with Y DNA – Your Dad's Story
What kinds of information are available if you take a Y DNA test, and how can you use it for genealogy?
Concepts – Who To Test for Your Father's DNA
What if your father isn't available to take a DNA test? How can you determine who else to test that will reveal your father's Y DNA information?
Concepts – Genetic Distance
Family Tree DNA shows the difference in the number of mutations between two men as "genetic distance." Learn what that means and how it's figured in this article.
Y DNA Match Changes at Family Tree DNA Affect Genetic Distance
Of course, there were changes right after I published the original Genetic Distance article. The only guarantees in life are death, taxes, and that something will change immediately after you publish.
Unexpected Discoveries Through DNA Testing
Sometimes when we take DNA tests, or others do, we discover the unexpected. That's always a possibility. Here's the story of my brother who wasn't my biological brother. If you'd like to read more about Dave's story, type "Dear Dave" into the search box on my blog. Read the articles in publication order, and not without a box of Kleenex.
Surprise Y Matches – What Do They Mean?
Often, what surprise matches mean is that you need to dig further.
Concepts – Paternal vs Patrilineal and Maternal vs Matrilineal
The words paternal and patrilineal aren't the same thing. Paternal refers to the paternal half of your family, where patrilineal is the direct father to father line.
Concepts – Undocumented Adoptions vs Untested Y Lines
Just because you don't have any surname matches doesn't necessarily mean it's because of what you're thinking.
STRs vs SNPs, Multiple DNA Personalities
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) aren't the same thing and are used differently in genealogy.
Triangulation for Y DNA
Piecing together your ancestor's Y DNA from descendants.
Haplogroups and the Three Brothers
Haplogroups are something like our pedigree charts.
Zeroes aka Deletions – Null DNA Markers
What does it mean when you have a zero for a marker value?
Using Spousal Surnames and DNA to Unravel Male Lines
There's more than one way to break down that brick wall. Here's how I figured out which of 4 sons was my ancestor.
Caution: Invisible Fathers and Autosomal Matching – Who's Hiding in Your DNA?
Just because you match the right line autosomally doesn't mean it's because you descend from the male child you think is your ancestor. Females gave their surnames to children born outside of a legal marriage which can lead to massive confusion. This is absolutely why you need to test the Y DNA of every single ancestral line.
Concepts: What are NPEs and MPEs?
When the direct patrilineal line isn't the line you're expecting.
New Counties of Origin Locations for Y and Mitochondrial Ancestors and Haplotrees at FamilyTreeDNA
You can now tell by looking at the flags on the haplotree where other people's ancestral lines on your branch are from. This is especially useful if you've taken the Big Y test and can tell you if you're hunting in the right location.
Working with the New Big Y Results (hg38)
If you're just now testing or tested in 2018 or after, you don't need to read this article unless you're interested in the improvements to the Big Y test over the years.
Big Y News and Stats
2019 was a banner year for discovery. 2020 was even more so, keeping up an amazing pace. I need to write a 2020 update article.
Glossary – Terminal SNP
What is a terminal SNP? Hint – it's not fatal😊
Averages, TIP Calculator and One Size Fits All
How the TIP calculator works and how to best interpret the results. Note that this tool is due for an update that incorporates more markers and SNP results too.
DNA Tidbit #2: FamilyTreeDNA's Compare Origins Map
You can view the location of the Y DNA and mitochondrial DNA ancestors of people whose ethnicity you match.
Family Tree DNA's PUBLIC Y DNA Haplotree
This free public tree is amazing, showing locations of each haplogroup and totals by haplogroup and country, including downstream branches.
Search Techniques for Y and Mitochondrial DNA Test Candidates
Need to search for and find Y DNA candidates when you don't know anyone from that line? Here's how.
Proving Men Whose Y Lines Don't Match are Related
Yes, it's still possible to resolve this issue using autosomal DNA. Non-matching Y DNA isn't the end of the road, just a fork.
Science Meets Genealogy – Including Ancient DNA
Haplogroup C3*- Previously Believed East Asian Haplogroup is Proven Native American
Haplogroup C was an unexpected find in the Americas and reaches into South America.
New Haplogroup C Native American Subgroups
Haplogroup C is found in several North American tribes.
Native American Haplogroup C Update – Progress
Haplogroup C is found as far east as Nova Scotia.
Further Analysis of Native American Haplogroup C-P39 Planned
Test by test, we made progress.
Native American Y Haplogroup C-P39 Sprouts Branches
New testers, new branches. The research continues.
The New Root – Haplogroup A00
The discovery of haplogroup A00 was truly amazing when it occurred – the base of the phylotree in Africa.
Family Tree DNA Research Center Facilitates Discovery of Ancient Root to Y Tree
The press release about the discovery of haplogroup A00.
Rare African Y DNA Haplogroup A00 Sprouts New Branches
In 2018, a living branch of A00 was discovered in Africa, and in 2020, an ancient DNA branch.
New Y DNA Haplogroup Naming Convention
Did you know that haplogroups weren't always known by their SNP names?
Family Tree DNA Names 100,000 New Y DNA SNPs
This brought the total of SNPs discovered by Family Tree DNA in mid-2018 to 153,000. I should contact the Research Center to see how many they have named at the end of 2020.
Exciting New Y DNA Haplogroup D Discoveries
An academic paper split ancient haplogroup D, but then the phylogenetic research team at FamilyTreeDNA split it twice more! This might not sound exciting until you realize this redefines what we know about early man, in Africa and as he emerged from Africa.
Y DNA Haplogroup P Gets a Brand-New Root – Plus Some Branches
Ancient DNA splits haplogroup P after analyzing the remains of two Jehai people from West Malaysia.
Kennewick Man is Native American
For years I doubted Kennewick Man's DNA would ever be sequenced, but it finally was. Kennewick Man's mitochondrial DNA haplogroup is X2a and his Y DNA was confirmed to Q-M3 in 2015.
442 Ancient Viking Skeletons Hold DNA Surprises – Does your Y or Mitochondrial DNA Match?
Compare your own DNA to Vikings!
Ancient Icelandic Viking Settlers Expand the Y DNA Tree
Twenty-seven Icelandic Viking skeletons tell a very interesting story.
Ancient Ireland's Y and Mitochondrial DNA – Do You Match?
Irish ancestors? Check your DNA and see if you match.
Longobards Ancient DNA from Pannonia and Italy – What Does Their DNA Tell Us? Are You Related?
Ancestors from Hungary or Italy? Take a look. These remains have matches to people in various places throughout Europe.
New Discoveries Shed Light on Out of Africa Theory and Beyond
The Y DNA story is no place near finished. Dr. Miguel Vilar, former Lead Scientist for National Geographic's Genographic Project provides additional analysis and adds a theory.
Y DNA Webinar at Legacy Family Tree Webinars – a 90-minute webinar for those who prefer watching to learn! It's not free, but you can subscribe here.
Success Stories and Genealogy Discoveries
Almost everyone has their own Y DNA story of discovery. Because the Y DNA follows the surname line, Y DNA testing often helps push those lines back a generation, or two, or four. When STR markers fail to be enough, we can turn to the Big Y-700 test which provides SNP markers down to the very tip of the leaves in the Y DNA tree. Often, but not always, family-defining SNP branches will occur which are much more stable and reliable than STR mutations – although SNPs and STRs should be used together.
The DNA Pedigree Chart – Mining for Ancestors
Methodologies to find ancestral lines to test, or maybe descendants who have already tested.
Germain Doucet and Haplogroup C3b
DNA testing reveals an unexpected mystery several hundred years old.
Jacob Lentz's Signatures: Cursive and Genetic
When I write each of my "52 Ancestor" stories, I include genetic information, for the ancestor and their descendants, when I can. Jacob was special because, in addition to being able to identify his autosomal DNA, his Y DNA matches the ancient DNA of the Yamnaya people. You can read about his Y DNA story in Jakob Lenz (1748-1821), Vinedresser.
Please feel free to add your success stories in the comments.
You never know what you're going to discover when you test your Y DNA. If you're a female, you'll need to find a male that descends from the line you want to test via all males to take the Y DNA test on your behalf. Of course, if you want to test your father's line, your father, or a brother through that father, or your uncle, your father's brother, would be good candidates.
What will you be able to discover? Who will the earliest known ancestor with that same surname be among your matches? Will you be able to break down a long-standing brick wall? You'll never know if you don't test.
You can click here to upgrade an existing test or order a Y DNA test.
You can always forward these articles to friends or share by posting links on social media. Who do you know that might be interested?
FamilyTreeDNA – Y, mitochondrial, and autosomal DNA testing
MyHeritage DNA – ancestry autosomal DNA only, not health
AncestryDNA – autosomal DNA only
Posted in Acadians, Advanced Matching, African, Ancestral Origins, Ancestral Surnames, Ancestral Trees, Ancient DNA, Ancient Origins, Anthropology, Basics, Best DNA Articles, Big Y, Big Y-700, Block Tree, Citizen Science, Definitions, Discovery, DNA Testing Companies, Earliest Known Ancestors, Education, Ethnicity, Family Finder, Family Tree DNA, FamilyTreeDNA, Genealogy + DNA, Genetic Distance, Genetic Genealogy, Genetic Tree, Haplogroup Origins, Haplogroups, Haplotree, History, Inheritance, Matching, Migration, Most Recent Common Ancestor (MRCA), MRCA (Most Recent Common Ancestor), Mutations, Named Variant, Non-Matching Variant, Non-Parental Events, Novel Variants, Paternal Inheritance, Private Variant, Projects, Research, Science, SNP (Single Nucleotide Polymorphism), STR (Short Tandem Repeat), Success Stories, Terminal SNP, Tools, Unexpected Findings, Unnamed Variant, Vikings, Webinars, Y DNA, Y-700, Y-Adam, Y500 | Tagged Ancient DNA, Basic Education, Best DNA Articles, Concepts, Educational, General Information, Intermediate DNA, Introductory DNA, Science, Tools, Y DNA | 13 Replies
Genographic Project Participants: Last Chance to Preserve Your Results & Advance Science – Deadline June 30th
Posted on June 16, 2020 by Roberta Estes
If you're one of the one million+ public participants in the National Geographic Society's Genographic Project, launched in 2005, you probably already know that testing has ceased and the website will be discontinued as of June 30th. Your results will no longer be available as of that date.
I wrote about the closing here and you can read what the Genographic project has to say about closing the public participation part of the project, here.
However, this doesn't have to be the end of the DNA story.
You have great options for yourself and to continue the science. Your results can still be useful, however…
You MUST act before June 30th.
Please note that if you control the DNA of a deceased person who did not test elsewhere, this is literally your last chance to obtain any DNA results for them. If you transfer their DNA, you can upgrade and purchase additional tests at Family Tree DNA. If you don't transfer, the opportunity to retrieve their DNA will be gone forever.
Three Steps + a Bonus
Preserve Your Results – Sign in to the Genographic site and take screenshots, print, or download any data you wish to keep.
Contribute to Science – Authorize the Genographic Project to utilize your results for ongoing scientific research, including The Million Mito Project
Transfer Your Results – If you tested before November 2016, you can transfer your results to FamilyTreeDNA and order upgrades if a sample remains
Here are step-by-step instructions for completing all three.
First – Preserve Your Results
Sign on to your account at The Genographic Project. You'll notice an option to print your results.
Scroll down and take one last look. Did you miss anything?
Your profile page includes the ability to download your raw genetic data.
Your Account page, below, will look slightly different depending on the version of the test you took, but the download option is present for all versions of the test.
The download file simply shows raw data values at specific positions and won't be terribly useful to you.
Generally, it's the analysis of what these mutations mean, or matching to others for genealogy, that people seek.
At the very bottom of your results page, you'll see the option to Contribute to Science.
Click on "How You Can Help."
Second – Contribute to Scientific Research
The best way to assure the legacy of the Genographic Project is to opt-in for science research.
You can learn more about what happens when you authorize your results for scientific research, here.
Checking the little box authorizes anonymized scientific research on your sample now and in the future. This assures that your results won't be destroyed on June 30th and will continue to be available to scientists.
The Genographic Project celebrated its 15th birthday in April 2020. Genographic Project data, including over 80,000 local and indigenous participants from over 100 countries, in addition to contributed public participation samples, has been included in approximately 85 research papers worldwide. Collaborative research is still underway. There's still so much to learn.
Dr. Miguel Vilar, the lead scientist for the Genographic Project, is a partner in The Million Mito Project. The anonymized mitochondrial results of people who have opted-in for science will be available to that project, and others, through Dr. Vilar. Please support rewriting the tree of womankind by opting-in for scientific research.
Those words, "in the future" are the key to making sure this critical opportunity to continue the science doesn't die.
If you don't want to scroll down your page, you can access the scientific contribution authorization page directly from your profile.
To contribute to science, Click on the "My Contribution to Science" tab."
You'll see the following screen. Then, check the box and click on the yellow "Contribute to Science" button. You'll then be prompted with a few questions about your maternal and paternal heritage.
Contributing your results to science helps further scientific research into mankind, but transferring your results to FamilyTreeDNA preserves the usefulness of your DNA results for you and facilitates upgrading your DNA to obtain even more information.
Transferring also allows you to participate fully in The Million Mito Project which requires a full sequence mitochondrial DNA sample.
Third – Transfer Your Results to FamilyTreeDNA
If you tested before November 2016 when the Genographic Project switched to Helix for processing, you can transfer your results easily to Family Tree DNA.
If you don't remember when you tested, sign in to your account. It's easy to tell if transferring is an option.
If you are eligible to transfer, you'll see this transfer option when you sign in.
Just click on the "Transfer Your Results" button. If you don't want to sign in to Genographic to do the transfer, just click on this transfer link directly.
You will then see this no-hassle transfer option on the Family Tree DNA web page. Because FamilyTreeDNA did the laboratory processing for the Genographic Project from its inception in 2005 until November 2016, all you need to do is enter your Genographic kit number and the transfer takes place automatically.
Please note that if you DON'T transfer NOW, the Genographic Project is requesting the destruction of all non-transferred kits after June 30th, per their website.
As you might imagine, preserving the DNA of a deceased person is critical if they didn't test elsewhere and you have the authority to manage their DNA.
In order to support The Million Mito Project, Family Tree DNA is emailing a coupon to all people who transfer, offering a discount to upgrade to a full sequence mitochondrial DNA test.
After you transfer to Family Tree DNA, be sure to enter your earliest known ancestor and upload a tree. Here's my "Four Quick Tips" article about getting the most out of mitochondrial DNA result, but it's sage advice for Y DNA as well.
Bonus – Upgrade Transferred Kits
If you transfer your Genographic results to FamilyTreeDNA, you can then utilize the DNA sample provided for your Genographic DNA test for additional testing
Different versions of the Genographic Project testing provided various types of results for your DNA. In some versions, testers received 12 Y STR markers or partial mitochondrial DNA results, and in other versions, partial haplogroups. You can only transfer what the Genographic provided, of course, but once transferred, you can order products and upgrades at Family Tree DNA, assuming a sample remains.
This is important, especially if you control the kit for a loved one who has now passed away. This may be your only opportunity to obtain their Y, mitochondrial, and/or autosomal DNA results. For example, my mother passed away before autosomal DNA testing was possible, but I've since upgraded her test at Family Tree DNA and was able to do so because her DNA was archived.
Support Science
Please support The Million Mito Project and other academic research by:
Choosing to contribute to science through the Genographic project and
By transferring your results to Family Tree DNA so that you can learn more and upgrade
Both options are totally free, and both equally important.
Time is of the essence. You must act before June 30th.
Don't let this be goodbye, simply au revior – the legacy of your DNA can live on in another place, another way, another day.
Posted in Anthropology, Best DNA Articles, Citizen Science, Consent, Coupon, Family Tree DNA, Genographic Project, Haplogroups, Helix, Million Mito Project, Mitochondrial DNA, Transfer, Y DNA | Tagged Science | 21 Replies
2018 – The Year of the Segment
Looking in the rear view mirror, what a year! Some days it's been hard to catch your breath things have been moving so fast.
What were the major happenings, how did they affect genetic genealogy and what's coming in 2019?
The SNiPPY Award
First of all, I'm giving an award this year. The SNiPPY.
Yea, I know it's kinda hokey, but it's my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.
Who will it be this year?
Drum roll…….
The 2018 SNiPPY goes to…
DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!
Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.
I've written about how to use the tool with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.
What else has happened this year? A lot!
Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it's going great guns now. Take a look at Jennifer Raff's article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.
From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018
Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.
I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.
Barbara Rae-Venter and the Golden State Killer Case
Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).
A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018's 10 People Who Mattered in Science.
DNA in the News
DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui's research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.
In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that "couldn't be done." Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.
Elizabeth Warren's DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We've already had a rather unpleasant sampling of this.
Law Enforcement and Genetic Genealogy
The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.
GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren't concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.
Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.
Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA's terms of service currently preclude this type of use.
Wow talk about coming onto the DNA world stage with a boom.
MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you're got a #1 winning combination.
It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 "The Year of the Segment," and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.
In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.
GDPR caused a lot of misery, and I'm glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.
GDPR, the European Data Protection Regulation which went into effect on May 25, 2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.
Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.
In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.
Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.
On to more positive events.
In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you're lucky, you'll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.
These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor's line from other sons of my founding ancestor😊
In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.
I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.
In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It's nice that Family Tree DNA continues to be the science company.
You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.
2018 Conferences
Of course, there are always the national conferences we're familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.
I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma's Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it's much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.
On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.
Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.
The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.
Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren't just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.
Bottom line, you can sit at home and educate yourself now. Technology is wonderful!
In 2019, I'll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled "DNA: King Arthur's Mighty Genetic Lightsaber" about how to use DNA to break through brick walls. I'll also see attendees at Saturday lunch when I'll be providing a fun session titled "Twists and Turns in the Genetic Road." This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.
There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!
The Leeds Method
In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.
I combine the Leeds method with DNAPainter. Great job Dana!
Genetic Affairs
In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.
I love this grouping tool. I have already found connections I didn't know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.
DNAGedcom.com
I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.
However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it's a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here. If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.
Rootsfinder
I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.
Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.
Chips and Imputation
Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won't be forever.
The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.
This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.
DNA Central
In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.
Many educators in the industry have created seminars for DNACentral. I just finished recording "Getting the Most out of Y DNA" for Blaine.
Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I'm pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.
If you or someone you know is looking for "how to" videos for each vendor, DNACentral offers "Now What" courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.
2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it's very difficult (nigh on impossible) to tell who is credible and who isn't. I created a Help page for just this reason.
You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.
https://dna-explained.com/ (this blog)
https://thegeneticgenealogist.com/ (Blaine Bettinger's)
https://www.legalgenealogist.com/ (Judy Russell's)
Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!
The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It's quite large but well-managed and remains positive.
I'm a member of many additional groups, several of which are vendor or interest specific.
Genetic Snakeoil
Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.
Be careful, very VERY careful who you purchase products from and where you upload your DNA data.
If something is free, and you're not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it's probably that and more, or less.
If reputable people and vendors tell you that no, they really can't determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a "tribe" in Canada that will, "for $50, we find one of your aboriginal ancestors and the nation stamps it." On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people's desires.
When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell's blog.
All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).
For genetic genealogy for ethnicity AND matching:
GedMatch (not a vendor because they don't test DNA, but a reputable third party)
You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.
Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.
The next group of vendors offers ethnicity without matching:
Genographic Project by National Geographic Society
Insitome
LivingDNA (currently working on matching, but not released yet)
Health (as a consumer, meaning you receive the results)
23andMe (limited health)
Medical (as a contributor, meaning you are contributing your DNA for research)
DNA.Land (not a testing vendor, doesn't test DNA)
There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don't see them listed or discussed on my blog, there's probably a reason.
What's Coming in 2019
Just like we couldn't have foreseen much of what happened in 2018, we don't have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:
MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that's been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry's internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I'm hopeful that they will have new tools and announcements at that event. I'm looking forward to seeing many old friends in Houston in March.
Here's what I know for sure about 2019 – it's going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I've solved a year from now.
What mysteries do you want to unravel?
I'd like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.
I receive a small contribution when you click on some (but not all) of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.
Posted in Ancestry.com, Ancient DNA, Anthropology, Archaic Humans, Autosomal, Awards, Big Y, Blogs, Chromosome Browser, Conference, Criminal, Denisova, Discovery, DNA Testing Companies, DNA.LAND, DNAGedcom, DNAPainter, Education, Ethics, Ethnicity, Family Finder, Family Tree DNA, Family Tree University, Forensics, GDPR, GedMatch, Genetic Affairs, Genetic Networks, Genographic Project, Golden State Killer, Health, Imputation, Insitome, Leeds Method, LivingDNA, Match Clusters, Match Groups, Mitosearch, MyHeritage, Native American, Neanderthal, News, Phylotree, Privacy, Projects, Promethease, Regulation, Research, RootsTech, Social Media, The Future, Tools, Triangulation, Y DNA, Y500, Ysearch | Tagged Basic Education, Educational | 32 Replies
Mass Pre-Contact Native Grave in California Yields Disappointing Results
Posted on October 20, 2015 by Roberta Estes
In 2012 during excavation for a shopping mall near San Francisco, a mass grave containing 7 men was unearthed. The manner in which they were buried led archaeologists to believe that they had been murdered, and quickly buried, not ceremonially buried as tribal members would be. They were found among more than 200 other burials.
The victims ages ranged from about 18 to about 40 and scientists concentrated on analyzing the wounds, cause of death and DNA of these men. In part, they wanted to see if they were related to each other and if they originated in this area or came from elsewhere. In other words, were they unsuccessful invaders as suggested by the circumstances of their burials?
This article tells more about the excavations and includes some photos.
Analysis suggests the men lived about 1200 years ago, clearly before European contact. Analysis of the men's teeth provided information about their history. These men had spent their lives together, but their isotope signatures were clearly different than the individuals in the balance of the burials. Indeed, they look to have been invaders.
An academic paper titled "Isotopic and genetic analysis of a mass grave in central California: Implications for precontact hunter-gatherer warfare" was published a few weeks ago in the American Journal of Physical Anthropology. The article itself is behind a paywall available here. The abstract is provided below:
Analysis of a mass burial of seven males at CA-ALA-554, a prehistoric site in the Amador Valley, CA, was undertaken to determine if the individuals were "locals" or "non-locals," and how they were genetically related to one another.
The study includes osteological, genetic (mtDNA), and stable (C, N, O, S) and radiogenic (Sr) isotope analyses of bone and tooth (first and third molars) samples.
Isotopes in first molars, third molars, and bone show they spent the majority of their lives living together. They are not locals to the Amador Valley, but were recently living to the east in the San Joaquin Valley, suggesting intergroup warfare as the cause of death. The men were not maternally related, but represent at least four different matrilines. The men also changed residence as a group between age 16 and adult years.
Isotope data suggest intergroup warfare accounts for the mass burial. Genetic data suggest the raiding party included sets of unrelated men, perhaps from different households. Generalizing from this case and others like it, we hypothesize that competition over territory was a major factor behind ancient warfare in Central California. We present a testable model of demographic expansion, wherein villages in high-population-density areas frequently fissioned, with groups of individuals moving to lower-population-density areas to establish new villages. This model is consistent with previous models of linguistic expansion. Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc.
I was extremely disappointed with the genetic information. Working with the local Ohlone community, the scientists did attempt to extract DNA from the 7 individuals in the mass grave, with 6 extractions being successful.
They only analyzed the HVR1 region of the mitochondrial DNA.
In the paper, the authors indicate that nuclear DNA which would include the Y chromosome as well as autosomal DNA was too degraded to recover. While disappointing, there is nothing they can do about that.
However, only analyzing the mitochondrial DNA, which they clearly were able to amplify, at the HVR1 level is an incredible lost opportunity. They obtained enough resolution in 6 of the individuals to obtain general haplogroup assignments. However, the HVR2 and coding regions would have provided the defining information about extended haplogroups and individual mutations, including, perhaps, haplogroups rarely or never seen previously in the Americas.
Furthermore, given the information above, we can't tell if the D1 individuals are related to each other matrilineally or not. The B2 individuals are clearly not related in a recent timeframe nor are the A2, B2 and D1 people related to each other on their matrilineal line. What a shame more information wasn't obtained.
While I'm grateful that DNA testing was undertaken, I'm saddened by the partial results, especially in this day of full genomic sequencing for ancient DNA specimens. I'm perplexed as to why they would not have obtained as much information as was possible, given the significant effort expended in recovering any ancient DNA specimen.
Posted in Ancient DNA, Anthropology, Forensics, Mitochondrial DNA, Native American | Tagged General Information | 7 Replies
Homo Naledi – A New Species Discovered
Posted on September 11, 2015 by Roberta Estes
"Homo naledi" by Berger et al. 2015 – http://elifesciences.org/lookup/doi/10.7554/eLife.09560.019. Licensed under CC BY 4.0 via Commons – https://commons.wikimedia.org/wiki/File:Homo_naledi.jpg#/media/File:Homo_naledi.jpg
The Cradle of Humankind World Heritage Site near Johannesburg, South Africa has once again produced bones. Previous finds, nearly one third of all ancient hominin fossils found, date to 3.5 million years of age. This new find may be the bones of our ancestor, but regardless, they certainly are the bones of a new, previously unknown, species.
The announcement came this week and articles can be seen online in several locations. The National Geographic Society is a partner in the excavation and retrieval of the bones from a very difficult cave, Rising Star, through only a very small opening following a precipitous decline. Stated bluntly – this is a "scare the hell out of you" cave. Not exactly convenient or inviting.
"Dinaledi Chamber illustration" by Paul H. G. M. Dirks et al – http://elifesciences.org/content/4/e09561. Licensed under CC BY 4.0 via Commons – https://commons.wikimedia.org/wiki/File:Dinaledi_Chamber_illustration.jpg#/media/File:Dinaledi_Chamber_illustration.jpg
There was more than one skeleton present. In this article and video from the New York Times, you can see that many bones were recovered, quite obviously from multiple individuals. More than 1550 in total – representing at least 15 different individuals. How did they get in this extremely remote cave with very limited access in the first place? And why?
Is this a separate species from ours, or our ancestors? How long ago did they live, and where do they fit on the family tree? The scientists are now referring to the ancient family tree as a braided stream – a river that divides into channels only to converge again later.
These announcements are being followed by a special on Nova/National Geographic Special titled the "Dawn of Humanity" which premieres on Sept. 16, 2015 at 9 PM ET/8 Central on PBS and is streaming online now. This documentary details the discovery and excavation of the fossils in the cave including Homo Naledi.
In the mean time, take a look at this wonderful article, chock full of pictures of course, by National Geographic. If you subscribe to the National Geographic magazine, guess what will be on the cover of the October issue???
This article in New Scientist has a great reconstruction of the Homo Naledi skull, and states that no attempt has yet been made to extract DNA. I continue to remind myself that patience is a virtue.
Posted in Anthropology, Archaic Humans, Discovery | Tagged General Information | 4 Replies
Some Native Americans Had Oceanic Ancestors
This week has seen a flurry of new scientific and news articles. What has been causing such a stir? It appears that Australian or more accurately, Australo-Melanese DNA has been found in South America's Native American population. In addition, it has also been found in Aleutian Islanders off the coast of Alaska. In case you aren't aware, that's about 8,500 miles as the crow flies. That's one tired crow. As the person paddles or walks along the shoreline, it's even further, probably about 12,000 miles.
Whatever the story, it was quite a journey and it certainly wasn't all over flat land.
This isn't the first inkling we've had. Just a couple weeks ago, it was revealed that the Botocudo remains from Brazil were Polynesian and not admixed with either Native, European or African. This admixture was first discovered via mitochondrial DNA, but full genome sequencing confirmed their ancestry and added the twist that they were not admixed – an extremely unexpected finding. This is admittedly a bit confusing, because it implies that there were new Polynesian arrivals in the 1600s or 1700s.
Unlikely as it seems, it obviously happened, so we set that aside as relatively contemporary.
The findings in the papers just released are anything but contemporary.
The First Article
The first article in Science, "Genomic evidence for the Pleistocene and recent population history of Native Americans" by Raghaven et al published this week provides the following summary (bolding is mine):
How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year isolation period in Beringia. Following their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 KYA, one that is now dispersed across North and South America and the other is restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative 'Paleoamerican' relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
This article in EurekAlert and a second one here discuss the Science paper.
Migration map from the Raghaven paper.
The paper included the gene flow and population migration map, above, along with dates.
The scientists sequenced the DNA of 31 living individuals from the Americas, Siberia and Oceana as follows:
Siberian:
Altai – 2
Buryat – 2
Ket – 2
Kiryak – 2
Sakha – 2
Siberian Yupik – 2
North American Native:
Tsimshian (number not stated, but by subtraction, it's 1)
Southern North American, Central and South American Native:
Pima – 1
Huichol -1
Aymara – 1
Yakpa – 1
Oceana:
Papuan – 14
The researchers also state that they utilized 17 specimens from relict groups such as the Pericues from Mexico and Fuego-Patagonians from the southernmost tip of South America. They also sequenced two pre-Columbian mummies from the Sierra Tarahumara in northern Mexico. In total, 23 ancient samples from the Americas were utilized.
They then compared these results with a reference panel of 3053 individuals from 169 populations which included the ancient Saqqaq Greenland individual at 400 years of age as well as the Anzick child from Montana from about 12,500 years ago and the Mal'ta child from Siberia at 24,000 years of age.
Not surprisingly, all of the contemporary samples with the exception of the Tsimshian genome showed recent western Eurasian admixture.
As expected, the results confirm that the Yupik and Koryak are the closest Eurasian population to the Americas. They indicate that there is a "clean split" between the Native American population and the Koryak about 20,000 years ago.
They found that "Athabascans and Anzick-1, but not the Greenlandis Inuit and Saqqaq belong to the same initial migration wave that gave rise to present-day Amerindians from southern North America and Central and South America, and that this migration likely followed a coastal route, given our current understanding of the glacial geological and paleoenvironmental parameters of the Late Pleistocene."
Evidence of gene flow between the two groups was also found, meaning between the Athabascans and the Inuit. Additionally, they found evidence of post-split gene flow between Siberians and Native Americans which seems to have stopped about 12,000 years ago, which meshes with the time that the Beringia land bridge was flooded by rising seas, cutting off land access between the two land masses.
They state that the results support all Native migration from Siberia, contradicting claims of an early migration from Europe.
The researchers then studied the Karitiana people of South America and determined that the two groups, Athabascans and Karitiana diverged about 13,000 years ago, probably not in current day Alaska, but in lower North America. This makes sense, because the Clovis Anzick child, found in Montana, most closely matches people in South America.
By the Clovis period of about 12,500 years ago, the Native American population had already split into two branches, the northern and southern, with the northern including Athabascan and other groups such as the Chippewa, Cree and Ojibwa. The Southern group included people from southern North America and Central and South America.
Interestingly, while admixture with the Inuit was found with the Athabascan, Inuit admixture was not found among the Cree, Ojibwa and Chippewa. The researchers suggest that this may be why the southern branch, such as the Karitiana are genetically closer to the northern Amerindians located further east than to northwest coast Amerindians and Athabascans.
Finally, we get to the Australian part. The researchers when trying to sort through the "who is closer to whom" puzzle found unexpected results. They found that some Native American populations including Aleutian Islanders, Surui (Brazil) and Athabascans are closer to Australo-Melanesians compared to other Native Americans, such as Ojibwa, Cree and Algonquian and South American Purepecha (Mexico), Arhuaco (Colombia) and Wayuu (Colombia, Venezuela). In fact, the Surui are one of the closest populations to East Asians and Australo-Melanese, the latter including Papuans, non-Papuan Melanesians, Solomon Islanders and hunter-gatherers such as Aeta. The researchers acknowledge these are weak trends, but they are nonetheless consistently present.
Dr. David Reich, from Harvard, a co-author of another paper, also published this past week, says that 2% of the DNA of Amazonians is from Oceana. If that is consistent, it speaks to a founder population in isolation, such that the 2% just keeps getting passed around in the isolated population, never being diluted by outside DNA. I would suggest that is not a weak signal.
The researchers suggest that the variance in the strength of this Oceanic signal suggests that the introduction of the Australo-Melanese occurred after the initial peopling of the Americas. The ancient samples cluster with the Native American groups and do not show the Oceanic markers and show no evidence of gene flow from Oceana.
The researchers also included cranial morphology analysis, which I am omitting since cranial morphology seems to have led researchers astray in the past, specifically in the case of Kennewick man.
One of the reasons cranial morphology is such a hotly debated topic is because of the very high degree of cranial variance found in early skeletal remains. One of the theories evolving from the cranial differences involving the populating of the Americans has been that the Australo-Melanese were part of a separate and earlier migration that gave rise to the earliest Americans who were then later replaced by the Asian ancestors of current day Native Americans. If this were the case, then the now-extinct Fuego-Patagonains samples from the location furthest south on the South American land mass should have included DNA from Oceana, but it didn't.
The Second Article
A second article published this week, titled "'Ghost population' hints at long lost migration to the Americas" by Ellen Callaway discusses similar findings, presented in a draft letter to Nature titled "Genetic evidence for two founding populations of the Americas" by Skoglund et al. This second group discovers the same artifact Australo-Melanesian DNA in Native American populations but suggests that it may be from the original migration and settlement event or that there may have been two distinct founding populations that settled at the same time or that there were two founding events.
EurekAlert discusses the article as well.
It's good to have confirmation and agreement between the two labs who happened across these results independently that the Australo-Melanesian DNA is present in some Native populations today.
Their interpretations and theories about how this Oceanic DNA arrived in some of the Native populations vary a bit, but if you read the details, it's really not quite as different as it first appears from the headlines. Neither group claims to know for sure, and both discuss possibilities.
Questions remain. For example, if the founding group was small, why, then, don't all of the Native people and populations have at least some Oceanic markers? The Anzick Child from 12,500 years ago does not. He is most closely related to the tribes in South America, where the Oceanic markers appear with the highest frequencies.
In the Harvard study, the scientists fully genome sequenced 63 individuals without discernable evidence of European or African ancestors in 21 Native American populations, restricting their study to individuals from Central and South America that have the strongest evidence of being entirely derived from a homogenous First American ancestral population.
Their results show that the two Amazonian groups, Surui and Karitians are closest to the "Australasian populations, the Onge from the Andaman Island in the Bay of Bengal (a so-called 'Negrito' group), New Guineans, Papuans and indigenous Australians." Within those groups, the Australasian populations are the only outliers – meaning no Africans, Europeans or East Asian DNA found in the Native American people.
When repeating these tests, utilizing blood instead of saliva, a third group was shown to also carry these Oceanic markers – the Xavante, a population from the Brazilian plateau that speaks a language of the Ge group that is different from the Tupi language group spoke by the Karitians and Surui.
The closest populations that these Native people matched in Oceana, shown above on the map from the draft Skoglund letter, were, in order, New Guineans, Papuans and Andamanese. The researchers further state that populations from west of the Andes or north of the Panama isthmus show no significant evidence of an affinity to the Onge from the Andaman Islands with the exception of the Cabecar (Costa Rica).
That's a very surprising finding, given that one would expect more admixture on the west, which is the side of the continent where the migration occurred.
The researchers then compared the results with other individuals, such as Mal'ta child who is known to have contributed DNA to the Native people today, and found no correlation with Oceanic DNA. Therefore, they surmised that the Oceanic admixture cannot be explained by a previously known admixture event.
They propose that a mystery population they have labeled as "Population Y" (after Ypykuera which means ancestor in the Tupi language family) contributed the Australasian lineage to the First Americans and that is was already mixed into the lineage by the time it arrived in Brazil.
According to their work, Population Y may itself have been admixed, and the 2% of Oceanic DNA found in the Brazilian Natives may be an artifact of between 2 and 85% of the DNA of the Surui, Karitiana and Xavante that may have come from Population Y. They mention that this result is striking in that the majority of the craniums that are more Oceanic in Nature than Asiatic, as would be expected from people who migrated from Siberia, are found in Brazil.
They conclude that the variance in the presence or absence of DNA in Native people and remains, and the differing percentages argue for more than one migration event and that "the genetic ancestry of Native Americans from Central and South America cannot be due to a single pulse of migration south of the Late Pleistocene ice sheets from a homogenous source population, and instead must reflect at least two streams of migration or alternatively a long drawn out period of gene flow from a structured Beringian or Northeast Asian source."
Perhaps even more interesting is the following statement:
"The arrival of population Y ancestry in the Americas must in any scenario have been ancient: while Population Y shows a distant genetic affinity to Andamanese, Australian and New Guinean populations, it is not particularly closely related to any of them, suggesting that the source of population Y in Eurasia no longer exists."
They further state they find no admixture indication that would suggest that Population Y arrived in the last few thousand years.
So, it appears that perhaps the Neanderthals and Denisovans were not the only people who were our ancestors, but no longer exist as a separate people, only as an admixed part of us today. We are their legacy.
The Take Away
When I did the Anzick extractions, we had hints that something of this sort might have been occurring. For example, I found surprising instances of haplogroup M, which is neither European, African nor Native American, so far as we know today. This may have been a foreshadowing of this Oceanic admixture. It may also be a mitochondrial artifact. Time will tell. Perhaps haplogroup M will turn out to be Native by virtue of being Oceanic and admixed thousands of years ago. There is still a great deal to learn. Regardless of how these haplogroups and Oceanic DNA arrived in Brazil in South America and in the Aleutian Islands off of Alaska, one thing is for sure, it did.
We know that the Oceanic DNA found in the Brazilian people studied for these articles is not contemporary and is ancient. This means that it is not related to the Oceanic DNA found in the Botocudo people, who, by the way, also sport mitochondrial haplogroups that are within the range of Native people, meaning haplogroup B, but have not been found in other Native people. Specifically, haplogroups B4a1a1 and B4a1a1a. Additionally, there are other B4a1a, B4a1b and B4a1b1 results found in the Anzick extract which could also be Oceanic. You can see all of the potential and confirmed Native American mitochondrial DNA results in my article "Native American Mitochondrial Haplogroups" that I update regularly.
We don't know how or when the Botocudo arrived, but the when has been narrowed to the 1600s or 1700s. We don't know how or when the Oceanic DNA in the Brazilian people arrived either, but the when was ancient. This means that Oceanic DNA has arrived in South America at least twice and is found among the Native peoples both times.
We know that some Native groups have some Oceanic admixture, and others seem to have none, in particular the Northern split group that became the Cree, Ojibwa, Algonquian, and Chippewa.
We know that the Brazilian Native groups are most closely related to Oceanic groups, but that the first paper also found Oceanic admixture in the Aleutian Islands. The second paper focused on the Central and South American tribes.
We know that the eastern American tribes, specifically the Algonquian tribes are closely related to the South Americans, but they don't share the Oceanic DNA and neither do the mid-continent tribes like the Cree, Ojibwa and Chippewa. The only Paleolithic skeleton that has been sequenced, Anzick, from 12,500 years ago in Montana also does not carry the Oceanic signature.
In my opinion, the disparity between who does and does not carry the Oceanic signature suggests that the source of the Oceanic DNA in the Native population could not have been a member of the first party to exit out of Beringia and settle in what is now the Americas. Given that this had to be a small party, all of the individuals would have been thoroughly admixed with each other's ancestral DNA within just a couple of generations. It would have been impossible for one ancestor's DNA to only be found in some people. To me, this argues for one of two scenarios.
First, a second immigration wave that joined the first wave but did not admix with some groups that might have already split off from the original group such as the Anzick/Montana group.
Second, multiple Oceanic immigration events. We still have to consider the possibility that there were multiple events that introduced Oceanic DNA into the Native population. In other words, perhaps the Aleutian Islands Oceanic DNA is not from the same migration event as the Brazilian DNA which we know is not from the same event as the Botocudo. I would very much like to see the Oceanic DNA appear in a migration path of people, not just in one place and then the other. We need to connect the dots.
What this new information does is to rule out the possibility that there truly was only one wave of migration – one group of people who settled the Americas at one time. More likely, at least until the land bridge submerged, is that there were multiple small groups that exited Beringia over the 8,000 or so years it was inhabitable. Maybe one of those groups included people from Oceana. Someplace, sometime, as unlikely as it seems, it happened.
The amazing thing is that it's more than 10,000 miles from Australia to the Aleutian Islands, directly across the Pacific. Early adventurers would have likely followed a coastal route to be sustainable, which would have been significantly longer. The fact that they survived and sent their DNA on a long adventure from Australia to Alaska to South America – and it's still present today is absolutely amazing.
We know we still have a lot to learn and this is the tip of a very exciting iceberg. As more contemporary and ancient Native people have their full genomes sequenced, we'll learn more answers. The answer is in the DNA. We just have to sequence enough of it and learn how to understand the message being delivered.
Posted in Admixture, Ancient DNA, Anthropology, Autosomal, Ethnicity, Full Genome Sequence, Haplogroups, Migration, Mitochondrial DNA, Native American, Population Genetics | Tagged General Information | 36 Replies
Botocudo Ancient Remains from Brazil
Posted on July 2, 2015 by Roberta Estes
Update: Please note that I am leaving this article because the scientific information is accurate, BUT, it was subsequently discovered that the remains were mislabeled in the museum and were not Native.
One thing you can always count on in the infant science of population genetics… whatever you think you know, for sure, for a fact…well….you don't. So don't say too much, too strongly or you'll wind up having to decide if you'd like catsup with your crow! Well, not literally, of course. It's an exciting adventure that we're on together and it just keeps getting better and better. And the times…they are a changin'.
Courtesy National Geographic https://natgeoeducationblog.files.wordpress.com/2015/04/world_map_of_y-dna_haplogroups.png
We have some very interesting news to report. Fortunately, or unfortunately – the news weaves a new, but extremely interesting, mystery.
Ancient Mitochondrial DNA
Back in 2013, a paper, Identification of Polynesian mtdNA haplogroups in remains of Botocudo Amerindians from Brazil, was published that identified both Native American and Polynesian haplogroups in a group of 14 skeletal remains of Botocudo Indians from Brazil whose remains arrived at a Museum in August of 1890 and who, the scientists felt, died in the second half of the 19th century.
Twelve of their mitochondrial haplogroups were the traditional Native haplogroup of C1.
However, two of the skulls carried Polynesian haplogroups, downstream of haplogroup B, specifically B4a1a1a and B4a1a1, that compare to contemporary individuals from Polynesian, Solomon Island and Fijian populations. These haplotypes had not been found in Native people or previous remains.
Those haplogroups include what is known as the Polynesian motif and are found in Indonesian populations and also in Madagascar, according to the paper, but the time to the most common recent ancestor for that motif was calculated at 9,300 years plus or minus 2000 years. This suggests that the motif arose after the Asian people who would become the Native Americans had already entered North and South America through Beringia, assuming there were no later migration waves.
The paper discusses several possible scenarios as to how a Polynesian haplotype found its way to central Brazil among a now extinct Native people. Of course, the two options are either pre-Columbian (pre-1500) contact or post-Columbian contact which would infer from the 1500s to current and suggests that the founders who carried the Polynesian motif were perhaps either slaves or sailors.
In the first half of the 1800s, the Botocudo Indians had been pacified and worked side by side with African slaves on plantations.
Beyond that, without full genome sequencing there was no more that could be determined from the remains at that time. We know they carried a Polynesian motif, were found among Native American remains and at some point in history, intermingled with the Native people because of where they were found. Initial contact could have been 9,000 years ago or 200. There was no way to tell. They did have some exact HVR1 and HVR2 matches, so they could have been "current," but I've also seen HVR1 and HVR2 matches that reach back to a common ancestor thousands of years ago…so an HVR1/HVR2 match is nothing you can take to the bank, certainly not in this case.
Full Genome Sequencing and Y DNA
This week, one on my subscribers, Kalani, mentioned that Felix Immanuel had uploaded another two kits to GedMatch of ancient remains. Those two kits are indeed two of the Botocudo remains – the two with the Polynesian mitochondrial motif which have now been fully sequenced. A corresponding paper has been published as well, "Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil" by Malaspinas et al with supplemental information here.
There are two revelations which are absolutely fascinating in this paper and citizen scientist's subsequent work.
First, their Y haplogroups are C-P3092 and C-Z31878, both equivalent to C-B477 which identifies former haplogroup C1b2. The Y haplogroups aren't identified in the paper, but Felix identified them in the raw data files that are available (for those of you who are gluttons for punishment) at the google drive links in Felix's article Two Ancient DNA from indigenous Botocudos of Brazil.
I've never seen haplogroup C1b2 as Native American, but I wanted to be sure I hadn't missed a bus, so I contacted Ray Banks who is one of the administrators for the main haplogroup C project at Family Tree DNA and also is the coordinator for the haplogroup C portion of the ISOGG tree.
You can see the position of C1b2, C-B477 in yellow on the ISOGG (2015) tree relative to the position of C-P39 in blue, the Native American SNP shown several branches below, both as branches of haplogroup C.
Ray maintains a much more descriptive tree of haplogroup C1 at this link and of C2 at this link.
The branch above is the Polynesian (B477) branch and below, the Native American (P39) branch of haplogroup C.
In addition to confirming the haplogroup that Felix identified, when Ray downloaded the BAM files and analyzed the contents, he found that both samples were also positive for M38 and M208, which moves them downstream two branches from C1b2 (B477).
Furthermore, one of the samples had a mutation at Z32295 which Ray has included as a new branch of the C tree, shown below.
Ray indicated that the second sample had a "no read" at Z32295, so we don't know if he carried this mutation. Ray mentions that both men are negative for many of the B459 equivalents, which would move them down one more branch. He also mentioned that about half of the Y DNA sites are missing, meaning they had no calls in the sequence read. This is common in ancient DNA results. It would be very interesting to have a Big Y or equivalent test on contemporary individuals with this haplogroup from the Pacific Island region.
Ray notes that all Pacific Islanders may be downstream of Z33295.
Not Admixed
The second interesting aspect of the genomic sequencing is that the remains did not show any evidence of admixture with European, Native American nor African individuals. More than 97% of their genome fits exactly with the Polynesian motifs. In other words, they appear to be first generation Polynesians. They carry Polynesian mitochondrial, Y and autosomal (nuclear) DNA, exclusively.
In total, 25 Botocudo remains have been analyzed and of those, two have Polynesian ancestry and those two, BOT15 and BOT17, have exclusively Polynesian ancestry as indicated in the graphic above from the paper.
When did they live? Accelerator mass spectrometry radiocarbon dating with marine correction gives us dates of 1479-1708 AD and 1730-1804 for specimen BOT15 and 1496-1842 for BOT17.
The paper goes on to discuss four possible scenarios for how this situation occurred and the pros and cons of each.
The Polynesian Peru Slave Trade
This occurred between 1862-1864 and can be ruled out because the dates for the skulls predate this trade period, significantly.
The Madagascar-Brazil Slave Trade
The researchers state that Madagascar is known to have been peopled by Southeast Asians and not by Polynesians. Another factor excluding this option is that it's known that the Malagasy ancestors admixed with African populations prior to the slave trade. No such ancestry was detected in the samples, so these individuals were not brought as a result of the Madagascar-Brazil slave trade – contrary to what has been erroneously inferred and concluded.
Voyaging on European Ships as Crew, Passengers or StowAways
Trade on Euroamerican ships in the Pacific only began after 1760 AD and by 1760, Bot15 and Bot17 were already deceased with a probability of .92 and .81, respectively, making this scenario unlikely, but not entirely impossible.
Polynesian Voyaging
Polynesian ancestors originated from East Asia and migrated eastwards, interacting with New Guineans before colonizing the Pacific. These people did colonize the Pacific, as unlikely as it seems, traveling thousands of miles, reaching New Zealand, Hawaii and Easter Island between 1200 and 1300 AD. Clearly they did not reach Brazil in this timeframe, at least not as related to these skeletal remains, but that does not preclude a later voyage.
Of the four options, the first two appear to be firmly eliminated which leaves only the second two options.
One of the puzzling aspects of this analysis it the "pure" Polynesian genome, eliminating admixture which precludes earlier arrival.
The second puzzling aspect is how the individuals, and there were at least two, came to find themselves in Minas Gerais, Brazil, and why we have not found this type of DNA on the more likely western coastal areas of South America.
Regardless of how they arrived, they did, and now we know at least a little more of their story.
At GedMatch, it's interesting to view the results of the one-to-one matching.
Both kits have several matches. At 5cM and 500 SNPs, kit F999963 has 86 matches. Of those, the mitochondrial haplogroup distribution is overwhelmingly haplogroup B, specifically B4a1a1 with a couple of interesting haplogroup Ms.
Y haplogroups are primarily C2, C3 and O. C3 and O are found exclusively in Asia – meaning they are not Native.
Kit F999963 matches a couple of people at over 30cM with a generation match estimate just under 5 generations. Clearly, this isn't possible given that this person had died by about 1760, according to the paper, which is 255 years or about 8.5-10 generations ago, but it says something about the staying power of DNA segments and probably about endogamy and a very limited gene pool as well. All matches over 15cM are shown below.
Kit F999964 matches 97 people, many who are different people that kit F999963 matched. So these ancient Polynesian people, F999963 and F999964 don't appear to be immediate relatives.
Again, a lot of haplogroup B mitochondrial DNA, but less haplogroup C Y DNA and no haplogroup O individuals.
Kit F999964 doesn't match anyone quite as closely as kit F999963 did in terms of total cM, but the largest segment is 12cM, so the generational estimate is still at 4.6, All matches over 15cM are shown below.
Who are these individuals that these ancient kits are matching? Many of these individuals know each other because they are of Hawaiian or Polynesian heritage and have already been working together. Several of the Hawaiian folks are upwards of 80%, one at 94% and one believed to be 100% Hawaiian. Some of these matches are to Maori, a Polynesian people from New Zealand, with one believed to be 100% Maori in addition to several admixed Maori. So obviously, these ancient remains are matching contemporary people with Polynesian ancestry.
The Unasked Question
Sooner or later, we as a community are going to have to face the question of exactly what is Native or aboriginal. In this case, because we do have the definitive autosomal full genome testing that eliminates admixture, these two individuals are clearly NOT Native. Without full genomic testing, we would have never known.
But what if they had arrived 200 years earlier, around 1500 AD, one way or another, possibly on an early European ship, and had intermixed with the Native people for 10 generations? What if they carried a Polynesian mitochondrial (or Y) DNA motif, but they were nearly entirely Native, or so much Native that the Polynesian could no longer be found autosomally? Are they Native? Is their mitochondrial or Y DNA now also considered to be Native? Or is it still Polynesian? Is it Polynesian if it's found in the Cook Islands or on Hawaii and Native if found in South America? How would we differentiate?
What if they arrived, not in 1500 AD, but about the year 500 AD, or 1000 BCE or 2000 BCE or 3000 BCE – after the Native people from Asia arrived but unquestionably before European contact? Does that make a difference in how we classify their DNA?
We don't have to answer this yet today, but something tells me that we will, sooner or later…and we might want to start pondering the question.
I want to thank all of the people involved whose individual work makes this type of comparative analysis possible. After all, the power of genetic genealogy, contemporary or ancient, is in collaboration. Without sharing, we have nothing. We learn nothing. We make no progress.
In addition to the various scientists and papers already noted, special thanks to Felix Immanual for preparing and uploading the ancient files. This is no small task and the files often take a month of prep each. Thanks to Kalani for bringing this to my attention. Thanks to Ray Banks for his untiring work with haplogroup C and for maintaining his haplogroup webpage with specifics about where the various subgroups are found. Thanks to ISOGG's volunteers for the haplotree. Thanks to GedMatch for providing this wonderful platform and tools. Thanks to everyone who uploads their DNA, and that of their relatives and works on specific types of projects – like Hawaiian and Maori. Thanks to my haplogroup C-P39 co-administrators, Dr. David Pike and Marie Rundquist, for their contributions to this discussion and for working together on the Native American Haplogroup C-P39 Project. It's important to have other people who are passionate about the same subjects to bounce things off of and to work with. This is the perfect example of the power of collaboration!
Posted in Admixture, Ancient DNA, Anthropology, Autosomal, Endogamy, Ethnicity, Mitochondrial DNA, Native American, Y DNA | Tagged General Information | 31 Replies
Naia – Oldest Native American Facial Reconstruction
Posted on January 15, 2015 by Roberta Estes
Naia, named affectionately for the ancient water nymphs of Greek mythology is actually the face of the oldest Native American. At least, the oldest one whose skull is complete and whose face we can reconstruct. Naia was a teenager when she died between 12,000 and 13,000 years ago by falling into a cave in the Yukatan. In 2007, her remains were found in a submerged cavern, and history was about to be made, after waiting some 12,000+ years.
A scientific team would study her remains, sample her DNA and reconstruct her face. The January 2015 issue of National Geographic magazine has an absolutely wonderful article and the online magazine version does as well.
Start by reading the wonderful story, of course, but don't miss the video about how they recovered the remains and the subsequent analysis. There is also a photo gallery and several other links, across the top of the article – all worth seeing.
One of the unexpected findings was how different Naia looks than what we would have expected based on what Native people look like today. She had a more African and Polynesian facial structure than later Native people, and she was much smaller. Be sure to check out Nat Geo's "clues to an ancient mystery."
Naia's mitochondrial DNA confirms that indeed, her matrilineal line originated in Asia, a common base haplogroup found in Native Americans today – haplogroup D1.
The accompanying academic paper was published in the May 2014 issue of the Journal Science, titled "Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans" by James Chatters et al.
The article is behind a paywall, but the abstract is as follows:
Because of differences in craniofacial morphology and dentition between the earliest American skeletons and modern Native Americans, separate origins have been postulated for them, despite genetic evidence to the contrary. We describe a near-complete human skeleton with an intact cranium and preserved DNA found with extinct fauna in a submerged cave on Mexico's Yucatan Peninsula. This skeleton dates to between 13,000 and 12,000 calendar years ago and has Paleoamerican craniofacial characteristics and a Beringian-derived mitochondrial DNA (mtDNA) haplogroup (D1). Thus, the differences between Paleoamericans and Native Americans probably resulted from in situ evolution rather than separate ancestry.
A second article, published in Science, also in May 2014, "Bones from a Watery "Black Hole" Confirm First American Origins" by Michael Balter discuss the fact that the earlier skeletons of Native people often don't resemble contemporary Native people.
Also behind a paywall, the summary states:
Most researchers agree that the earliest Americans came over from Asia via the Bering Strait between Siberia and Alaska, beginning at least 15,000 years ago. But many have long puzzled over findings that some of the earliest known skeletons—with long skulls and prominent foreheads—do not resemble today's Native Americans, who tend to have rounder skulls and flatter faces. Some have even suggested that at least two migrations into the Americas were involved, one earlier and one later. But the discovery of a nearly 13,000-year-old teenage girl in an underwater cave in Mexico's Yucatán Peninsula argues against that hypothesis. The girl had the skull features of older skeletons, but the genetic profile of some of today's Native Americans—suggesting that the anatomical differences were the result of evolutionary changes after the first Americans left Asia, rather than evidence of separate ancestry.
Of course, the fact that Naia was found so early in such a southern location has spurred continuing debate about migration waves and paths, land versus water arrivals. Those questions won't be resolved until we have a lot more data to work with – but they do make for lively debate. Dienekes wrote a short article about this topic when the paper was first released, and the comments make for more interesting reading than the article.
Posted in Anthropology, Mitochondrial DNA, Native American | Tagged General Information | 5 Replies
Kostenki14 – A New Ancient Siberian DNA Sample
Posted on November 12, 2014 by Roberta Estes
This week, published in Science, we find another ancient DNA full genome sequence from Siberia in an article titled "Genomic structure in Europeans dating back at least 36,200 years" by Seguin-Orlando et al.. This sample, partially shown above, is quite old and closely related to the Mal'ta child, also found in Siberia from about 24,000 years ago. Interestingly enough, K14 carries more Neanderthal DNA than current Europeans. This skeleton was actually excavated in 1954, but was only recently genetically analyzed.
From the paper, this map above shows the locations of recently analyzed ancient DNA samples. Note that even though K14 and Mal'ta child are similar, they are not located in close geographic proximity.
Also from the paper, this chart of population clusters is quite interesting, because we can see which of these ancient samples share some heritage with today's indigenous American populations, shown in grey. UPGH=Upper Paleolithic Hunter-Gatherer, MHG=Mesolithic Hunter Gatherer, which is later in time that Paleolithic, and NEOL=Neolithic indicating the farming population that arrived in Europe approximately 7,000-10,000 years ago from the Middle East
You can see that the Neolithic samples show no trace of ancestry with today's Native people, but both pre-Neolithic Hunter-Gatherer cultures show some amount of shared ancestry with Native people. However, to date, MA1, the Malta child is the most closely related and carries the most DNA in common with today's Native people.
Felix Chandrakumar is currently preparing the K14 genome for addition to the ancient DNA kits at GedMatch. It will be interesting to see if this sample also matches currently living individuals.
Also from the K14 paper, you can see on the map below where K14 matches current worldwide and European populations, where the warmer colors, i.e. red, indicated a closer match.
Of interest to genealogists and population geneticists, K14's mitochondrial haplogroup is U2 and his Y haplogroup is C-M130, the same as LaBrana, a late Mesolithic hunter-gatherer found in northern Spain. Haplogroup C is, of course, one of the base haplogroups for the Native people of the Americas.
The K14 paper further fleshes out the new peopling of Europe diagram discussed in my Peopling of Europe article.
This map, from the Lazardis "Ancient human genomes suggest three ancestral populations for present-day Europeans" paper published in September 2014, shows the newly defined map including Ancient North Eurasian in this diagram.
K14 adds to this diagram in the following manner, although the paths are flipped right to left.
Blue represent current populations, red are ancient remains and green are ancestral populations.
Dienekes wrote about this find as well, here.
Paper Abstract:
The origin of contemporary Europeans remains contentious. We obtain a genome sequence from Kostenki 14 in European Russia dating to 38,700 to 36,200 years ago, one of the oldest fossils of Anatomically Modern Humans from Europe. We find that K14 shares a close ancestry with the 24,000-year-old Mal'ta boy from central Siberia, European Mesolithic hunter-gatherers, some contemporary western Siberians, and many Europeans, but not eastern Asians. Additionally, the Kostenki 14 genome shows evidence of shared ancestry with a population basal to all Eurasians that also relates to later European Neolithic farmers. We find that Kostenki 14 contains more Neandertal DNA that is contained in longer tracts than present Europeans. Our findings reveal the timing of divergence of western Eurasians and East Asians to be more than 36,200 years ago and that European genomic structure today dates back to the Upper Paleolithic and derives from a meta-population that at times stretched from Europe to central Asia.
You can read the full paper at the two links below.
http://www.sciencemag.org/content/early/2014/11/05/science.aaa0114
http://www2.zoo.cam.ac.uk/manica/ms/2014_Seguin_Orlando_et_al_Science.pdf
It's been a great year for ancient DNA analysis and learning about our ancestral human populations.
However, I have one observation I just have to make about this particular find.
What amazing teeth. Obviously, this culture did not consume sugar!
Posted in Ancient DNA, Anthropology, Archaic Humans, Autosomal, Discovery, Mitochondrial DNA, Native American, Neanderthal, Population Genetics, Y DNA | Tagged General Information | 15 Replies
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