Neanderthal origin of the haplotypes carrying the functional variant Val92Met in the MC1R in modern humans.

@article{Ding2014NeanderthalOO,
  title={Neanderthal origin of the haplotypes carrying the functional variant Val92Met in the MC1R in modern humans.},
  author={Qiliang Ding and Ya Hu and Shuhua Xu and Chuan-Chao Wang and H. Li and Ru-yue Zhang and Shi Yan and Jiucun Wang and L. Jin},
  journal={Molecular biology and evolution},
  year={2014},
  volume={31 8},
  pages={
          1994-2003
        }
}
Skin color is one of the most visible and important phenotypes of modern humans. Melanocyte-stimulating hormone and its receptor played an important role in regulating skin color. In this article, we present evidence of Neanderthal introgression encompassing the melanocyte-stimulating hormone receptor gene MC1R. The haplotypes from Neanderthal introgression diverged with the Altai Neanderthal 103.3 ka, which postdates the anatomically modern human-Neanderthal divergence. We further discovered… Expand
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References

SHOWING 1-10 OF 48 REFERENCES
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians
TLDR
These functional variant alleles were geographically localized in relatively high latitudes, which suggest that the adaptation to ambient UV light intensity may play an important role in shaping the geographical distribution of MC1R alleles in Asia and Oceania. Expand
Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population
Abstract. The melanocortin-1 receptor (MC1R) andP gene product are two important components of the human pigmentary system that have been shown to be associated with red hair/fair skin and cause typeExpand
Neanderthal introgression at chromosome 3p21.31 was under positive natural selection in East Asians.
TLDR
Evidence of Neanderthal introgression within the chromosome 3p21.31 region is presented, and suggestive evidence supports latitude-dependent selection and suggests that this allele was lost during the exodus of ancestors of modern Eurasians from Africa and reintroduced to Eurasian from Neanderthals. Expand
Global genetic variation at OAS1 provides evidence of archaic admixture in Melanesian populations.
TLDR
A detailed sequence analysis of the innate immune gene OAS1 is provided, a locus with a divergent Melanesian haplotype that is very similar to the Denisova sequence from the Altai region of Siberia, supporting the hypothesis that this haplotype introgressed from an archaic source that likely lived in Eurasia. Expand
A haplotype at STAT2 Introgressed from neanderthals and serves as a candidate of positive selection in Papua New Guinea.
TLDR
A DNA sequence analysis of the innate immune gene STAT2 is provided and it is shown that a haplotype carried by many Eurasians (but not sub-Saharan Africans) has a sequence that closely matches that of the Neanderthal STAT2. Expand
A Haplotype at STAT 2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea
Signals of archaic admixture have been identified through comparisons of the draft Neanderthal and Denisova genomes with those of living humans. Studies of individual loci contributing to theseExpand
Melanocortin 1 receptor variants in an Irish population.
TLDR
The results show that the Arg151Cys, Arg160Trp, and Asp294His variants are of key significance in determining the pigmentary phenotype and response to ultraviolet radiation, and suggest that in many cases the red-haired component and in some cases fair skin type are inherited as a Mendelian recessive. Expand
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
TLDR
The results suggest that both red hair colour (RHC) and non-red hair colour variants, and possibly other rare non-synonymous variants, in MC1R are implicated in the development of MM. Expand
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
TLDR
Variants of the MC1R gene are likely to be causally associated with the development of melanoma, and the Asp84Glu variant was only present in melanoma cases and appears to be of particular significance. Expand
A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals
The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans ofExpand
...
1
2
3
4
5
...