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• W1800135099 abstract "Variation in human skin pigmentation evolved in response to the selective pressure of ultra-violet radiation (UVR). Selection to maintain darker skin in high UVR environments is expected to constrain pigmentation phenotype and variation in pigmentation loci. Consistent with this hypothesis, the gene MC1R exhibits reduced diversity in African populations from high UVR regions compared to low-UVR non-African populations. However, MC1R diversity in non-African populations that have evolved under high-UVR conditions is not well characterized.In order to test the hypothesis that MC1R variation has been constrained in Melanesians the coding region of the MC1R gene was sequenced in 188 individuals from Northern Island Melanesia. The role of purifying selection was assessed using a modified McDonald Kreitman's test. Pairwise FST was calculated between Melanesian populations and populations from the 1000 Genomes Project. The SNP rs2228479 was genotyped in a larger sample (n = 635) of Melanesians and tested for associations with skin and hair pigmentation.We observe three nonsynonymous and two synonymous mutations. A modified McDonald Kreitman's test failed to detect a significant signal of purifying selection. Pairwise FST values calculated between the four islands sampled here indicate little regional substructure in MC1R. When compared to African, European, East and South Asian populations, Melanesians do not exhibit reduced population divergence (measured as FST) or a high proportion of haplotype sharing with Africans, as one might expect if ancestral haplotypes were conserved across high UVR populations in and out of Africa. The only common nonsynonymous polymorphism observed, rs2228479, is not significantly associated with skin or hair pigmentation in a larger sample of Melanesians.The pattern of sequence diversity here does not support a model of strong selective constraint on MC1R in Northern Island Melanesia This absence of strong constraint, as well as the recent population history of the region, may explain the observed frequencies of the derived rs2228479 allele. These results emphasize the complex genetic architecture of pigmentation phenotypes, which are controlled by multiple, possibly interacting loci. They also highlight the role that population history can play in influencing phenotypic diversity in the absence of strong natural selection." @default.
• W1800135099 created "2016-06-24" @default.
• W1800135099 creator A5026580646 @default.
• W1800135099 creator A5047723840 @default.
• W1800135099 creator A5079566718 @default.
• W1800135099 date "2015-10-19" @default.
• W1800135099 modified "2023-10-06" @default.
• W1800135099 title "MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region" @default.
• W1800135099 cites W1480933312 @default.
• W1800135099 cites W1598034714 @default.
• W1800135099 cites W1842221471 @default.
• W1800135099 cites W1977623174 @default.
• W1800135099 cites W1979423929 @default.
• W1800135099 cites W1981605211 @default.
• W1800135099 cites W1981821647 @default.
• W1800135099 cites W1982516085 @default.
• W1800135099 cites W1982603712 @default.
• W1800135099 cites W1984390786 @default.
• W1800135099 cites W1988104611 @default.
• W1800135099 cites W1990527153 @default.
• W1800135099 cites W1995126053 @default.
• W1800135099 cites W1996508044 @default.
• W1800135099 cites W1997951253 @default.
• W1800135099 cites W2001772020 @default.
• W1800135099 cites W2003469869 @default.
• W1800135099 cites W2006398969 @default.
• W1800135099 cites W2014464427 @default.
• W1800135099 cites W2016594427 @default.
• W1800135099 cites W2017305574 @default.
• W1800135099 cites W2020055953 @default.
• W1800135099 cites W2031759247 @default.
• W1800135099 cites W2031916690 @default.
• W1800135099 cites W2038086243 @default.
• W1800135099 cites W2039375931 @default.
• W1800135099 cites W2043584813 @default.
• W1800135099 cites W2049439526 @default.
• W1800135099 cites W2055235209 @default.
• W1800135099 cites W2056574347 @default.
• W1800135099 cites W2059447601 @default.
• W1800135099 cites W2060444231 @default.
• W1800135099 cites W2065243562 @default.
• W1800135099 cites W2068336539 @default.
• W1800135099 cites W2070332388 @default.
• W1800135099 cites W2073235279 @default.
• W1800135099 cites W2073862212 @default.
• W1800135099 cites W2075462489 @default.
• W1800135099 cites W2080349213 @default.
• W1800135099 cites W2080487903 @default.
• W1800135099 cites W2080637133 @default.
• W1800135099 cites W2082967637 @default.
• W1800135099 cites W2085163235 @default.
• W1800135099 cites W2085287237 @default.
• W1800135099 cites W2096420865 @default.
• W1800135099 cites W2100561376 @default.
• W1800135099 cites W2103022776 @default.
• W1800135099 cites W2108169091 @default.
• W1800135099 cites W2110755408 @default.
• W1800135099 cites W2115975896 @default.
• W1800135099 cites W2116668053 @default.
• W1800135099 cites W2116893702 @default.
• W1800135099 cites W2121504310 @default.
• W1800135099 cites W2123439746 @default.
• W1800135099 cites W2123797367 @default.
• W1800135099 cites W2124199922 @default.
• W1800135099 cites W2124735240 @default.
• W1800135099 cites W2127192950 @default.
• W1800135099 cites W2127501217 @default.
• W1800135099 cites W2128725994 @default.
• W1800135099 cites W2128880918 @default.
• W1800135099 cites W2129233990 @default.
• W1800135099 cites W2134149040 @default.
• W1800135099 cites W2137233414 @default.
• W1800135099 cites W2140784970 @default.
• W1800135099 cites W2142980977 @default.
• W1800135099 cites W2143183225 @default.
• W1800135099 cites W2145121588 @default.
• W1800135099 cites W2146760247 @default.
• W1800135099 cites W2152304671 @default.
• W1800135099 cites W2154845780 @default.
• W1800135099 cites W2155069978 @default.
• W1800135099 cites W2157752701 @default.
• W1800135099 cites W2161177337 @default.
• W1800135099 cites W2161633633 @default.
• W1800135099 cites W2163265624 @default.
• W1800135099 cites W2273865507 @default.
• W1800135099 cites W2346743715 @default.
• W1800135099 cites W2403121160 @default.
• W1800135099 cites W2480349173 @default.
• W1800135099 cites W4230556398 @default.
• W1800135099 cites W4250669397 @default.
• W1800135099 cites W4364118878 @default.
• W1800135099 doi "https://doi.org/10.1186/s12863-015-0277-x" @default.
• W1800135099 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4615358" @default.
• W1800135099 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26482799" @default.
• W1800135099 hasPublicationYear "2015" @default.
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