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. 2007 Sep 6:3:169-78.

Interactions between SNP alleles at multiple Loci and variation in skin pigmentation in 122 Caucasians

Sumiko Anno  1 , Takashi Abe, Koichi Sairyo, Susumu Kudo, Takushi Yamamoto, Koretsugu Ogata, Vijay K Goel
Affiliations

Interactions between SNP alleles at multiple Loci and variation in skin pigmentation in 122 Caucasians

Sumiko Anno et al. Evol Bioinform Online. .

Abstract

This study was undertaken to clarify the molecular basis for human skin color variation and the environmental adaptability to ultraviolet irradiation, with the ultimate goal of predicting the impact of changes in future environments on human health risk. One hundred twenty-two Caucasians living in Toledo, Ohio participated. Back and cheek skin were assayed for melanin as a quantitative trait marker. Buccal cell samples were collected and used for DNA extraction. DNA was used for SNP genotyping using the Masscode system, which entails two-step PCR amplification and a platform chemistry which allows cleavable mass spectrometry tags. The results show gene-gene interaction between SNP alleles at multiple loci (not necessarily on the same chromosome) contributes to inter-individual skin color variation while suggesting a high probability of linkage disequilibrium. Confirmation of these findings requires further study with other ethic groups to analyze the associations between SNP alleles at multiple loci and human skin color variation. Our overarching goal is to use remote sensing data to clarify the interaction between atmospheric environments and SNP allelic frequency and investigate human adaptability to ultraviolet irradiation. Such information should greatly assist in the prediction of the health effects of future environmental changes such as ozone depletion and increased ultraviolet exposure. If such health effects are to some extent predictable, it might be possible to prepare for such changes in advance and thus reduce the extent of their impact.

Keywords: Environmental adaptability; Polygene; Single nucleotide polymorphisms (SNPs).

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Figures

Figure 1.
Figure 1.
Genotype frequencies for 20 SNPs from samples with high and low melanin values. #rs: all subjects; H: high melanin value; L: low melanin value.
Figure 2.
Figure 2.
Allele frequencies for 20 SNPs from samples with high and low melanin values. #rs: all subjects; H: high melanin value; L: low melanin value.
See this image and copyright information in PMC

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References

    1. Aoki K. Sexual selection as a cause of human skin color variation: Darwin's hypothesis revisited. Ann. Hum. Biol. 2002;29(6):589–608. - PubMed
    1. Akey JM, Wang H, Xiong M, et al. Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum. Genet. 2001;108(6):516–520. - PubMed
    1. Anno S, Abe T, Sairyo K, et al. Interaction with SNP allele in multiple loci contributes to human skin color diversity (1) Journal of Physiological Anthropology. 2006;11(1):30–31.
    1. Flanagan N, Healy E, Ray A, et al. Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum. Mol. Genet. 2000;9(17):2531–2537. - PubMed
    1. John PR, Makova K, Li WH, et al. DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals. Ann. N.Y. Acad. Sci. 2003;994:299–306. - PubMed

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