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Genome evolution

Mobile element insertions affect human pigmentation and skin cancer risk

Nearly 50% of the sequence of mammalian genomes is derived from mobile elements that inserted into the genome over millions of years of evolution. A recent mobile element insertion, found only in some individuals with European genetic ancestry, contributes to decreased skin pigmentation and increased sunburn frequency and skin cancer risk.

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Fig. 1: Model for the effect of repeated SVA insertions at the ASIP locus.

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Correspondence to Jeffrey M. Kidd.

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Kidd, J.M. Mobile element insertions affect human pigmentation and skin cancer risk. Nat Genet 56, 1546–1547 (2024). https://doi.org/10.1038/s41588-024-01849-w

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