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

  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},
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
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
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
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
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
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
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.
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
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
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
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.


A scan for signatures of positive selection in candidate loci for skin pigmentation in humans.
Results indicate that both light and dark skin may possess adaptive value and photoprotection against sun-induced skin damage/cancer might be proposed as a mechanism that has driven the evolution of human skin pigmentation.
Sequences associated with human iris pigmentation.
The results suggest that cryptic population structure might serve as a leverage tool for complex trait gene mapping if genomes are screened with the appropriate ancestry informative markers.
Evidence for recent positive selection at the human AIM1 locus in a European population.
The results suggest that positive selection recently has been acting or has acted on at least this region of the melanogenic gene and that an advantageous haplotype spread rapidly in Europe.
High polymorphism at the human melanocortin 1 receptor locus.
A comparison of the rates of substitution in genes in the melanocortin receptor family indicates that MC1R has evolved the fastest, and the nucleotide diversity at theMC1R locus is shown to be several times higher than the average nucleotide Diversity in human populations, possibly due to diversifying selection.
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 type
Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
A single-nucleotide polymorphism is found that has clear association with major human populations in terms of skin color and is investigated in the search for the genes controlling human skin color variations.
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans
This study suggests that the ASIP G>A polymorphism exhibits a dominant effect leading to lighter skin color and that variation in the AsIP gene may have been one of several factors contributing to reductions in pigmentation in some populations.
Skin pigmentation, biogeographical ancestry and admixture mapping
This work indicates that it is possible to estimate the individual ancestry of a person based on DNA analysis with a reasonable number of well-defined genetic markers, as well as applying two methods of admixture mapping to test for the effects of three candidate genes.
Implications of correlations between skin color and genetic ancestry for biomedical research
The results demonstrate the utility of ancestry-informative genetic markers and admixture methods and emphasize the need to be cautious when using pigmentation as a proxy of ancestry or when extrapolating the results from one admixed population to another.