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Thread: Selection for a variant related to UV radiation in non-Africans

  1. #1
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    Selection for a variant related to UV radiation in non-Africans

    Positive selection in Europeans and East-Asians at the ABCA12 gene
    Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment. In a previous genome-wide scan for positive selection in contemporary humans, we identified a signal of positive selection in European and Asians at the genetic variant rs10180970. The variant is located in the second intron of the ABCA12 gene, which is implicated in the lipid barrier formation and down-regulated by UVB radiation. We studied the signal of selection in the genomic region surrounding rs10180970 in a larger dataset that includes DNA sequences from ancient samples. We also investigated the functional consequences of gene expression of the alleles of rs10180970 and another genetic variant in its proximity in healthy volunteers exposed to similar UV radiation. We confirmed the selection signal and refine its location that extends over 35 kb and includes the first intron, the first two exons and the transcription starting site of ABCA12. We found no obvious effect of rs10180970 alleles on ABCA12 gene expression. We reconstructed the trajectory of the T allele over the last 80,000 years to discover that it was specific to H. sapiens and present in non-Africans 45,000 years ago.

    Makes one wonder if this might have been a significant factor in the human expansion out of Africa?

    I did not find rs10180970 in either my Ancestry and 23andMe tests, but it was TT in my Dante Labs X30 WGS test (the most common variant for non-Africans).
    YFull: YF14620 (Dante Labs 2018)

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