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Article

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

Nature genetics - 1 Aug 2024

Kamitaki Nolan, Hujoel Margaux L A, Mukamel Ronen E, Gebara Edward, McCarroll Steven A, Loh Po-Ru

Abstract excerpt

Retrotransposons comprise about 45% of the human genome1, but their contributions to human trait variation and evolution are only beginning to be explored2,3. 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39048794
DOI: 10.1038/s41588-024-01841-4
PMCID: PMC11319198

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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