Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

doi:10.1093/hmg/9.17.2531

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Article

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Human molecular genetics - 12 Oct 2000

Flanagan N, Healy E, Ray A, Philips S, Todd C, Jackson I J, Birch-Machin M A, Rees J L

Abstract excerpt

Variants of the melanocortin 1 receptor (MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear. We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and...

Topics

Alleles
Case-Control Studies
Female
Gene Dosage
Genes, Dominant
Genetic Variation
Genotype
Hair Color
Heterozygote
Homozygote
Humans
Male
Pedigree
Receptors, Corticotropin
Receptors, Melanocortin
Skin Pigmentation

Source

Open in PubMed

Identifiers

PMID: 11030758
DOI: 10.1093/hmg/9.17.2531

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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