Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population

Akey, Joshua M.; Wang, Hong; Xiong, Momiao; Wu, Hong; Liu, Weida; Shriver, Mark D.; Jin, Li

doi:10.1007/s004390100524

Cited by 63 publications

(53 citation statements)

References 21 publications

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“…Numerous studies have negated involvement of this gene in determination of iris colour variation (Branicki et al 2005). Initial data suggest that epistatic interactions between different genes may also play an important role in eventual determination of phenotypic features (Akey et al 2001;Pastorino et al 2004). Pastorino et al (2004) suggested that MC1R variants that are responsible for red hair colour determination may be masked by other genes in populations with darker pigmentation.…”

Section: Resultsmentioning

confidence: 99%

“…Pathogenic mutations in the OCA2 gene are responsible for one of the most common forms of oculocutaneous albinism in humans (Oetting et al 2005). OCA2 was also linked to natural differences in skin colour (Akey et al 2001) and soon became considered as a major gene involved in determination of iris colour Frudakis et al 2003;Duffy et al 2007). The latest studies indicate that a significant amount of variation in eye colour is explained by an interplay between OCA2 and the gene HERC2, which is located in its neighbourhood (Kayser et al 2008;Sturm et al 2008).…”

Section: Introductionmentioning

confidence: 99%

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Association of the SLC45A2 gene with physiological human hair colour variation

et al. 2008

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Pigmentation is a complex physical trait with multiple genes involved. Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important genes affecting human pigmentation. Here we present results of an association study conducted on a population of European origin, where the relationship between two non-synonymous polymorphisms in the SLC45A2 gene -rs26722 (E272K) and rs16891982 (L374F) -and different pigmentation traits was examined. The study revealed a significant association between both variable sites and normal variation in hair colour. Only L374F remained significantly associated with hair colour when both SNPs were included in a logistic regression model. No association with other pigmentation traits was detected in this population sample. Our results indicate that the rare allele L374 significantly increases the possibility of having black hair colour (OR = 7.05) and thus may be considered as a future marker for black hair colour prediction.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association of the SLC45A2 gene with physiological human hair colour variation

et al. 2008

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“…Another more thoroughly studied pigment gene is OCA2 which is a major gene involved in oculocutaneous albinism in human (Oetting et al 1996). Initially, research that was carried out into the link between OCA2 and normal pigment variation revealed an association between the gene and skin pigmentation (Akey et al 2001). A more thorough study on the evolution of pigmentation variation indicated the minor role of the OCA2 gene in light skin evolution in European descent populations (Norton et al 2007).…”

Section: Discussionmentioning

confidence: 99%

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Branicki

Brudnik

Kupiec

et al. 2007

Annals of Human Genetics

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SummaryA number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent. In this study, eleven polymorphisms of the OCA2 gene were examined in search of their association with different pigment traits. The evolutionary tree scanning method indicated that the strongest phenotypic eye colour variation is associated with the branch defined by nonsynonymous change rs1800407, which refers to amino acid causing change Arg419Gln located in exon 13. Single SNP analysis indicated that allele 419Gln is associated with green/hazel iris colour (p < 0.001). According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.

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“…An exception is a study on a Tibetan population; the main effects of these two variants were not significant, but an interaction between V92M and a SNP in OCA2 was associated with an increase in lightness (L*) of skin on the inner upper arm. 43 The association of MC1R variants with skin reflectance still remains unclear in most East Asian populations, including the entire Japanese population; however, some researchers have suggested that positive selection has acted on MC1R alleles in East Asian populations. 38 Therefore, we investigated the effect of MC1R variants on skin pigmentation in a large sample of Japanese people by analyzing association between MC1R variants and skin reflectance objectively quantified with a spectrophotometer, as well as freckling.…”

Section: Introductionmentioning

confidence: 99%

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese

et al. 2012

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Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were obtained from a total of 653 Japanese individuals (ages 19-40 years) residing in Okinawa; skin reflectance was measured using a spectrophotometer and freckling status was determined for each individual. Lightness index (L*) and freckling status were not correlated with age, body mass index or ancestry (Ryukyuan or Main Islanders of Japan). Among the 10 nonsynonymous variants that were identified by direct sequencing of the coding region of MC1R, two variants-R163Q and V92M-with the derived allele frequencies of 78.6 and 5.5%, respectively, were most common. Multiple regression analysis showed that the 163Q allele and the presence of nonsynonymous rare variants (allele frequencies o5%) were significantly associated with an increase in sex-standardized skin lightness (L* of CIELAB (CIE 1976 (L*a*b*) color space)) of the inner upper arm. Relative to the 92V allele, the 92M allele was significantly associated with increased odds of freckling. This is the first study to show an association between the 163Q allele and skin reflectance values; this association indicated that light-toned skin may have been subjected to positive selection in East Asian people.

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Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population

Cited by 63 publications

References 21 publications

Association of the SLC45A2 gene with physiological human hair colour variation

Association of the SLC45A2 gene with physiological human hair colour variation

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese

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