Polymorphisms upstream of the melanocortin-1 receptor coding region are associated with human pigmentation variation in a Brazilian population.
Am J Hum Biol
; 24(6): 853-5, 2012.
Article
em En
| MEDLINE
| ID: mdl-22961816
ABSTRACT
OBJECTIVE:
We describe an association of two SNPs, rs3212345C>T and rs3212346G>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 (rs3212345C>T and rs3212346G>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 rs3212345C>T is associated with light skin, red hair, and poor tanning ability, while the rs3212346G>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.CONCLUSION:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Pigmentação da Pele
/
Regiões Promotoras Genéticas
/
Receptor Tipo 1 de Melanocortina
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Hum Biol
Assunto da revista:
BIOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Brasil