Add like
Add dislike
Add to saved papers

Evidence for positive selection on recent human transposable element insertions.

Gene 2018 October 31
Insertional activity of transposable elements (TEs) has had a major impact on the human genome; approximately one-half to two-thirds of the genome sequence is likely to be derived from TE insertions. Several families of human TEs - primarily Alu, L1 and SVA - continue to actively transpose, thereby generating insertional polymorphisms among individual genomes. The impact that TE insertions have on their human hosts' fitness, and accordingly the role that natural selection plays in shaping patterns of TE polymorphisms among populations, have yet to be systematically evaluated using whole genome sequence data. We present here a population genomic study of the effects of natural selection on human genetic variation that results from the recent activity of TEs. We developed a genome-wide scan for selection on human TE polymorphisms and applied it to a dataset of 14,384 locus-specific TE insertions characterized for 1511 individuals from 15 populations. Our TE selection scan looks for anomalously high population-specific TE insertion allele frequencies that are consistent with the action of positive (adaptive) selection. To control for the effects of demographic history, we compared the observed patterns of population-specific TE insertion allele frequencies to a neutral evolutionary model generated using time forward simulation of TE insertion allele frequencies among human population groups. This approach uncovered seven cases of polymorphic TE insertions that appear to have increased in frequency within specific human populations owing to the effects of positive selection. Five of the seven putatively selected TE insertions map to tissue-specific enhancers, and two cases correspond to expression quantitative trait loci that are associated with inter-individual gene regulatory differences. This study represents the first report of recent, local adaptation acting on polymorphic human TEs.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app