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

J. M. Akey, H. Wang, M. Xiong, H. Wu, W. Liu, Mark Shriver, L. Jin

Research output: Contribution to journalArticle

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Abstract

The melanocortin-1 receptor (MC1R) and P 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 II oculocutaneous albinism, respectively. However, their contribution to inter-individual variation at the population level is not well defined. To this end, we genotyped 3 single nucleotide polymorphisms (SNPs) in the MC1R gene (Arg67Gln, Gln163Arg, Val92Met) and 2 SNPs in the P gene (IVS13-15 and Gly780Gly) in 184 randomly ascertained Tibetan subjects, whose skin color was measured as a quantitative trait by reflective spectroscopy. Single locus analyses failed to demonstrate an association between any of the 5 SNPs and skin pigmentation. However, when an epistatic model was applied to the data, a significant gene-gene interaction was identified between Val92Met in MC1R and IVS13-15 in the P gene (F=2.43; P=0.0105). We also discuss the possible mechanisms of how gene interactions arise in signal transduction pathways.

Original languageEnglish (US)
Pages (from-to)516-520
Number of pages5
JournalHuman genetics
Volume108
Issue number6
DOIs
StatePublished - Jan 1 2001

Fingerprint

Receptor, Melanocortin, Type 1
Skin Pigmentation
Phenotype
Population
Genes
Single Nucleotide Polymorphism
Hair
Signal Transduction
Spectrum Analysis
Skin

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population",
abstract = "The melanocortin-1 receptor (MC1R) and P 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 II oculocutaneous albinism, respectively. However, their contribution to inter-individual variation at the population level is not well defined. To this end, we genotyped 3 single nucleotide polymorphisms (SNPs) in the MC1R gene (Arg67Gln, Gln163Arg, Val92Met) and 2 SNPs in the P gene (IVS13-15 and Gly780Gly) in 184 randomly ascertained Tibetan subjects, whose skin color was measured as a quantitative trait by reflective spectroscopy. Single locus analyses failed to demonstrate an association between any of the 5 SNPs and skin pigmentation. However, when an epistatic model was applied to the data, a significant gene-gene interaction was identified between Val92Met in MC1R and IVS13-15 in the P gene (F=2.43; P=0.0105). We also discuss the possible mechanisms of how gene interactions arise in signal transduction pathways.",
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Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. / Akey, J. M.; Wang, H.; Xiong, M.; Wu, H.; Liu, W.; Shriver, Mark; Jin, L.

In: Human genetics, Vol. 108, No. 6, 01.01.2001, p. 516-520.

Research output: Contribution to journalArticle

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AU - Wang, H.

AU - Xiong, M.

AU - Wu, H.

AU - Liu, W.

AU - Shriver, Mark

AU - Jin, L.

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