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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.
It is concluded that the conserved region around rs12913832 represents a regulatory region controlling constitutive expression of OCA2 and that the C allele at rs129 13832 leads to decreased expression ofOCA2, particularly within iris melanocytes, which is postulate to be the ultimate cause of blue eye color. Expand
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
Genotyping 25 red haired and 62 non-red Caucasians and dizygotic twin pairs discordant for red hair colour indicates that the MSHR gene cannot be solely responsible for the red hair phenotype, and it is likely that additional modifier genes exist, making variance in the MS HR gene necessary but not always sufficient, for redhair production. Expand
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
It is concluded that the effect that MC1R variant alleles have on CMM is partly mediated via determination of pigmentation phenotype and that these alleles may also negate the protection normally afforded by darker skin coloring in some members of this white population. Expand
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
The minor population impact of the nonsynonymous coding-region polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the tight linkage of the major TGT haplotype within the intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggest that differences within the 5' proximal regulatory control region of the OCA1 gene alter expression or messenger RNA-transcript levels and may be responsible for these associations. Expand
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
  • A. Cook, W. Chen, +10 authors R. Sturm
  • Biology, Medicine
  • The Journal of investigative dermatology
  • 1 February 2009
Genotype-phenotype associations performed on a collection of 226 southern European individuals were able to show strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation, respectively. Expand
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes, which suggests that other OCA2 polymorphisms influence mole count and remain to be described. Expand
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
Comparison of the in vitro receptor characteristics with skin and hair colour data of individuals both homozygous and heterozygous for MC1R variant alleles revealed parallels between variantMC1R cell surface expression, functional ability, dominant negative activity and their effects on human pigmentation. Expand
Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European
An approximately 7,000-year-old Mesolithic skeleton discovered at the La Braña-Arintero site in León, Spain, is sequenceed to retrieve a complete pre-agricultural European human genome, providing evidence that a significant number of derived, putatively adaptive variants associated with pathogen resistance in modern Europeans were already present in this hunter-gatherer. Expand
The ubiquitous octamer-binding protein Oct-1 contains a POU domain with a homeo box subdomain.
The cDNA cloning of the human oct-1 gene, which encodes Oct-1, is reported by screening lambda gt11 recombinant phage in situ for octamer motif-specific DNA binding by screening for beta-galactosidase-octamer-binding fusion protein with DNA-binding specificity indistinguishable from human HeLa cellOct-1 protein. Expand
Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.
The association persisted, confirming that presence of at least one variant allele remains informative in terms of predicting risk for developing a solar-induced skin lesion beyond that information wained through observation of pigmentation phenotype. Expand