How do HBS1L-MYB intergenic variants regulate fetal hemoglobin?
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. Several HBS1L-MYB intergenic variants affect regulatory elements that are occupied by key erythroid transcription factors within this region. These elements interact with MYB, a critical regulator of erythroid development and HbF levels. Several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels.