{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T05:26:52Z","timestamp":1772429212976,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,9,8]],"date-time":"2012-09-08T00:00:00Z","timestamp":1347062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hum Biol"],"published-print":{"date-parts":[[2012,11]]},"abstract":"Abstract<\/jats:title>Objective:<\/jats:title>We describe an association of two SNPs, rs3212345:C>T and rs3212346:G>A, located approximately 2.5 kb upstream of the melanocortin\u20101 receptor (MC1R<\/jats:italic>) translation initiation codon, with pigmentation phenotype variation in a Southeast Brazilian miscegenated population.<\/jats:p><\/jats:sec>Methods:<\/jats:title>One hundred thirty\u2010eight 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.<\/jats:p><\/jats:sec>Results:<\/jats:title>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\u2010C and rs3212346\u2010A alleles in human, chimpanzee, gorilla, orangutan, and marmoset genomes suggests that they are the ancestral alleles.<\/jats:p><\/jats:sec>Conclusion:<\/jats:title>These data suggest that the rs3212345\u2010T and rs3212346\u2010G 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. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajhb.22301","type":"journal-article","created":{"date-parts":[[2012,9,8]],"date-time":"2012-09-08T05:11:10Z","timestamp":1347081070000},"page":"853-855","source":"Crossref","is-referenced-by-count":9,"title":["Polymorphisms upstream of the melanocortin\u20101 receptor coding region are associated with human pigmentation variation in a Brazilian population"],"prefix":"10.1002","volume":"24","author":[{"given":"Vanessa","family":"Neitzke\u2010Montinelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turan P.","family":"Urmenyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edson","family":"Rondinelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro Hernan","family":"Cabello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosane","family":"Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo S.","family":"Moura\u2010Neto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00414-009-0348-5"},{"key":"e_1_2_4_3_1","unstructured":"DrummondAJ AshtonB BuxtonS CheungM CooperA HeledJ KearseM MoirR Stones\u2010HavasS SturrockS ThiererT.WilsonA.2010. 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