Polymorphisms upstream of the melanocortin-1 receptor coding region are associated with human pigmentation variation in a Brazilian population
Article first published online: 8 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Human Biology
Volume 24, Issue 6, pages 853–855, November/December 2012
How to Cite
Neitzke-Montinelli, V., Urmenyi, T. P., Rondinelli, E., Cabello, P. H., Silva, R. and Moura-Neto, R. S. (2012), Polymorphisms upstream of the melanocortin-1 receptor coding region are associated with human pigmentation variation in a Brazilian population. Am. J. Hum. Biol., 24: 853–855. doi: 10.1002/ajhb.22301
- Issue published online: 15 OCT 2012
- Article first published online: 8 SEP 2012
- Manuscript Accepted: 19 JUN 2012
- Manuscript Revised: 13 JUN 2012
- Manuscript Received: 22 MAY 2012
- FAPERJ. Grant Number: E26/111.537/2010
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.
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.
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.
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. Am. J. Hum. Biol. 2012. © 2012 Wiley Periodicals, Inc.