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A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
We have previously demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eyeExpand
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Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of whom were 12 years of age and members ofExpand
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Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
Risk of cutaneous malignant melanoma (CMM) is increased in sun-exposed whites, particularly those with a pale complexion. This study was designed to investigate the relationship of the melanocortin-1Expand
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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role ofExpand
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Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European
Ancient genomic sequences have started to reveal the origin and the demographic impact of farmers from the Neolithic period spreading into Europe. The adoption of farming, stock breeding andExpand
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Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
The relationships between MC1R gene variants and red hair, skin reflectance, degree of freckling and nevus count were investigated in 2331 adolescent twins, their sibs and parents in 645 twinExpand
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Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations. Here, weExpand
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The ubiquitous octamer-binding protein Oct-1 contains a POU domain with a homeo box subdomain.
The octamer motif ATGCAAAT is recognized indistinguishably by two mammalian transcription factors: one that is expressed ubiquitously and referred to here as Oct-1, and another, Oct-2, that isExpand
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Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for threeExpand
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Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are associated with red hair, fair skin and increasedExpand
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