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We identified four novel associated regions involving skin or eye pigmentation.
Follow-up analyses conditioned on six well-established pigmentation variants (and explaining a large proportion of phenotypic variation in our sample) increase the strength of association for the other associated loci, and identified one additional locus known to impact on skin pigmentation.
We find that the MFSD12 region shows significant evidence of selection in East Asians (dated after their split from Europeans) and that the frequency of the Y182H variant correlates with the intensity of solar radiation.
We also explored the genetic architecture of pigmentation in Latin Americans, and found multiple independent signals of association at the 11q14 and 15q23 regions (overlapping GRM5/TYR and HERC2/OCA2), as well as signals of epistatic interactions among independently associated alleles.
Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans.
We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
Alternatively, it has been proposed that variation in human pigmentation could have been affected by sexual selection, or a form of frequency-dependent selection, as appears to be the case in many other animals.
With breathtaking views of the city skyline, waterfront and the dramatic 65-foot stage, wherever you are is right where you want to be.In particular, the observation of a decrease in human skin pigmentation at increasing distance from the Equator has been interpreted as resulting from an adaptation to lower levels of ultraviolet radiation, consistent with the tanning response being a physiological skin-protection mechanism.As a corollary, it has been suggested that variation in eye and hair color in Western Eurasians could represent a by-product of natural selection on skin pigmentation.Overall, our findings highlight the complex genetic architecture of pigmentation phenotypes in Latin Americans, and support the view that, in modern humans, lighter skin pigmentation has evolved independently at least twice in Eurasia, possibly as an adaptation to geographic variation in solar radiation exposure..Information on skin, hair and eye (iris) pigmentation (Figs. Skin pigmentation, measured using reflectometry by the melanin index (MI), showed extensive variation.