论文信息 - Polymorphisms upstream of the melanocortin‐1 receptor coding region are associated with human pigmentation variation in a Brazilian population

Polymorphisms upstream of the melanocortin‐1 receptor coding region are associated with human pigmentation variation in a Brazilian population

We describe an association of two SNPs, rs3212345:C>T and rs3212346:G>A, located approximately 2.5 kb upstream of the melanocortin‐1 receptor (MC1R) translation initiation codon, with pigmentation phenotype variation in a Southeast Brazilian miscegenated population.

[1] Rosane Silva,et al. Population genetic analyses of the AmpFlSTR® NGM™ in Brazil , 2012, International Journal of Legal Medicine.

[2] Manfred Kayser,et al. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. , 2011, Forensic science international. Genetics.

[3] Shosuke Ito,et al. Predicting Phenotype from Genotype: Normal Pigmentation * , 2010, Journal of forensic sciences.

[4] Peter M Schneider,et al. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. , 2009, Forensic science international. Genetics.

[5] B. Ludes,et al. Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis , 2009, International Journal of Legal Medicine.

[6] Jaume Bertranpetit,et al. A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals , 2007, Science.

[7] S. D. Pena,et al. Color and Genomic Ancestry in Brazilians: A Study with Forensic Microsatellites , 2006, Human Heredity.

[8] Nina G. Jablonski,et al. The Evolution of Human Skin and Skin Color , 2004 .

[9] J. García-Borrón,et al. Rate limiting factors in melanocortin 1 receptor signalling through the cAMP pathway. , 2003, Pigment cell research.