期刊
BMC EVOLUTIONARY BIOLOGY
卷 16, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s12862-016-0842-6
关键词
Copy number variation; Genomic structural variants; Atopic dermatitis; HLA; Defensins; Neanderthal; LCE3A; Human evolution
资金
- OG's start-up funds from University at Buffalo Research Foundation
Background: A common, 32kb deletion of LCE3B and LCE3C genes is strongly associated with psoriasis. We recently found that this deletion is ancient, predating Human-Denisovan divergence. However, it was not clear why negative selection has not removed this deletion from the population. Results: Here, we show that the haplotype block that harbors the deletion (i) retains high allele frequency among extant and ancient human populations; (ii) harbors unusually high nucleotide variation (pi, P < 4.1 x 10(-3)); (iii) contains an excess of intermediate frequency variants (Tajima's D, P < 3.9 x 10(-3)); and (iv) has an unusually long time to coalescence to the most recent common ancestor (TSel, 0.1 quantile). Conclusions: Our results are most parsimonious with the scenario where the LCE3BC deletion has evolved under balancing selection in humans. More broadly, this is consistent with the hypothesis that a balance between autoimmunity and natural vaccination through increased exposure to pathogens maintains this deletion in humans.
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