Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

摘要: Tandem repeats (TRs) are stretches of DNA that highly variable in length and mutate rapidly. They thus an important source genetic variation. This variation is informative for population conservation genetics. It has also been associated with several pathological conditions gene expression regulation. However, genome-wide surveys TR humans closely related species have scarce due to technical difficulties derived from short-read technology. Here we explored the diversity TRs a panel 83 human nonhuman great ape genomes, total six different species, studied their impact on evolution. We found patterns can be efficiently captured short (repeat unit length, 1-5 bp). examined potential evolutionary role differences between primates by using 30,275 larger 2-50 Genes contained promoters, 3' untranslated region, introns, exons had higher divergence than genes without regions. Polymorphic small (1-5 bp) compared fixed or no promoters. Our findings highlight contribution evolution through