Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms

@article{Lao2007SignaturesOP,
  title={Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms},
  author={Oscar Lao and Johanna M de Gruijter and Kate van Duijn and Arcadi Navarro and Manfred Kayser},
  journal={Annals of Human Genetics},
  year={2007},
  volume={71}
}
Phenotypic variation between human populations in skin pigmentation correlates with latitude at the continental level. A large number of hypotheses involving genetic adaptation have been proposed to explain human variation in skin colour, but only limited genetic evidence for positive selection has been presented. To shed light on the evolutionary genetic history of human variation in skin colour we inspected 118 genes associated with skin pigmentation in the Perlegen dataset, studying single… 
Molecular genetics of human pigmentation diversity.
  • R. Sturm
  • Biology
    Human molecular genetics
  • 2009
TLDR
From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation.
Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing
TLDR
The data indicate that even genes that are strong biological candidates for positive selection and show reproducible signatures of positive selection in SNP scans do not always show the same replicability of selection signals in other tests, which should be considered in future studies on detectingpositive selection in genetic data.
Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry
TLDR
A genome-wide scan of signatures of positive selection using the 1000 Genomes Phase I dataset identified a number of putative pigmentation genes showing extremely unusual patterns of genetic variation in East Asia, providing strong support to the hypothesis that recent selective sweeps left a signature in these regions.
Evolution of Skin Pigmentation Differences in Humans
TLDR
Human skin pigmentation is a complex trait that evolved as an adaptation to local environmental conditions and several hypotheses that assign a key role to natural selection have been proposed to explain the global distribution of human skin colour.
Global Patterns of Diversity and Selection in Human Tyrosinase Gene
TLDR
A global study of the human tyrosinase gene, which is one of the key enzymes in melanin production, is reported to assess the role of its variation in the evolution of skin pigmentation differences among human populations and observes a higher rate of non-synonymous polymorphisms in the European sample consistent with the relaxation of selective constraints.
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
TLDR
Signs of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans are investigated.
The Genetics of Human Skin and Hair Pigmentation.
TLDR
The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.
The evolution of skin pigmentation-associated variation in West Eurasia
TLDR
This study shows that the response to selection for light skin pigmentation in West Eurasia was driven by a relatively small proportion of the variants that are associated with present-day phenotypic variation.
Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation
TLDR
It is shown that the non-synonymous polymorphism rs1800414 (His615Arg) located within the OCA2 gene is significantly associated with skin pigmentation in this sample, and this result is consistent with previous research indicating that evolution to lightly-pigmented skin occurred, at least in part, independently in Europe and East Asia.
The evolution of skin pigmentation associated variation in West Eurasia
TLDR
The response to selection for light skin pigmentation in West Eurasia was driven by a relatively small proportion of the variants that are associated with present-day phenotypic variation, which is driven mostly by a limited number of large-effect variants.
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