A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation.

ABSTRACT: Retrotransposons comprise about 45% of the human genome¹, but their contributions to human trait variation and evolution are only beginning to be explored^2,3. Here, we find that a sequence of SVA retrotransposon insertions in an early intron of the ASIP (agouti signaling protein) gene has probably shaped human pigmentation several times. In the UK Biobank (n = 169,641), a recent 3.3-kb SVA insertion polymorphism associated strongly with lighter skin pigmentation (0.22 [0.21-0.23] s.d.; P = 2.8 × 10^-351) and increased skin cancer risk (odds ratio = 1.23 [1.18-1.27]; P = 1.3 × 10^-28), appearing to underlie one of the strongest common genetic influences on these phenotypes within European populations^4-6. ASIP expression in skin displayed

SUBMITTER: Kamitaki N 

PROVIDER: S-EPMC11319198 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature