RT Journal Article SR Electronic T1 Tandem repeat variation in human and great ape populations and its impact on gene expression divergence JF bioRxiv FD Cold Spring Harbor Laboratory SP 015784 DO 10.1101/015784 A1 Tugce Bilgin Sonay A1 Tiago Carvalho A1 Mark D. Robinson A1 Maja P. Greminger A1 Michael Krützen A1 David Comas A1 Gareth Highnam A1 David Mittelman A1 Andrew Sharp A1 Tomàs-Marques Bonet A1 Andreas Wagner YR 2015 UL http://biorxiv.org/content/early/2015/02/27/015784.abstract AB Tandem repeats (TR) are stretches of DNA that are highly variable in length and mutate rapidly, and thus an important source of genetic variation. This variation is highly informative for population and conservation genetics, and has also been associated with several pathological conditions and with gene expression regulation. However, genome-wide surveys of TR variation have been scarce due to the technical difficulties derived from short-read technology.Here, we explored the genome-wide diversity of TRs in a panel of 83 human and nonhuman great ape genomes, and their impact on gene expression evolution. We found that populations and species diversity patterns can be efficiently captured with short TRs (repeat unit length 1-5 base pairs) with potential applications in conservation genetics. We also examined the potential evolutionary role of TRs in gene expression differences between humans and primates by using 30,275 larger TRs (repeat unit length 2-50 base pairs). About one third of the 13,035 one-to-one orthologous genes contained TRs within 5 kilobase pairs of their transcription start site, and had higher expression divergence than genes without such TRs. The same observation held for genes with repeats in their 3’ untranslated region, in introns, and in exons. Using our polymorphism data for the shortest TRs, we found that genes with polymorphic repeats in their promoters showed higher expression divergence in humans and chimpanzees compared to genes with fixed or no TRs in the promoters. Our findings highlight the potential contribution of TRs to recent human evolution through gene regulation.