title: Polymorphisms upstream of the melanocortin-1 receptor coding region are associated with human pigmentation variation in a Brazilian population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  One hundred thirty-eight genetically unrelated subjects, with multicolor phenotype, were selected from the southeast region of Brazil. Skin, hair and eye color, and tanning ability were rated. Genotypes for each SNP (rs3212345:C>T and rs3212346:G>A) were determined. A logistic regression analysis was performed with the additive model to determine which of the polymorphisms contributed to a specific phenotype.
  
  
  RESULTS
  We found that the rs3212345:C>T is associated with light skin, red hair, and poor tanning ability, while the rs3212346:G>A is associated with dark skin, black hair, and strong tanning ability. The presence of rs3212345-C and rs3212346-A alleles in human, chimpanzee, gorilla, orangutan, and marmoset genomes suggests that they are the ancestral alleles.
  
  
  CONCLUSIONS
  These data suggest that the rs3212345-T and rs3212346-G alleles may have contributed to lighter pigmentation phenotypes in modern humans. Genotyping for these SNPs may prove useful to the fields of molecular anthropology and forensic genetics.
authors.affiliation: Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ 21941-902, Brazil.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Neitzke-Montinelli
authors.forename: Turan P
authors.initials: TP
authors.lastname: Urmenyi
authors.forename: Edson
authors.initials: E
authors.lastname: Rondinelli
authors.forename: Pedro Hernan
authors.initials: PH
authors.lastname: Cabello
authors.forename: Rosane
authors.initials: R
authors.lastname: Silva
authors.forename: Rodrigo S
authors.initials: RS
authors.lastname: Moura-Neto
mesh_terms: D001483:Base Sequence; D001938:Brazil; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D016415:Sequence Alignment; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1