Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects

Sandhya V. Koppula, Linda S. Robbins, Dongsi Lu, Eric Baack, Clifton R. White, Neil A. Swanson, Roger D. Cone

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


The extension locus has been identified in many mammalian species as a gene that determines the relative amounts of eumelanin and phaeomelanin pigments in hair and skin. In at least three species, this locus has been demonstrated to encode the melanocyte-stimulating hormone receptor (MC1-R), and functionally variant alleles have been demonstrated to cause a broad range of pigmentation phenotypes. To test for MC1-R allelic variation in man, genomic DNA was extracted from skin samples collected from patients with different skin types (I-VI), and eye and hair color. A PCR-based approach was used to amplify the full-length coding sequence of the MC1-R and the resulting products were sequenced. Two polymorphic alleles were identified with single point mutations in the coding sequence: a valine-to-methionine substitution at position 92 (V92M), and an aspartic acid-to-glutamic acid substitution at position 84 (D84E). RFLP analysis demonstrated the presence of the V92M allele in 4 out of 60 (6.6%) of individuals examined, predominantly those with blue eyes and blond hair. This polymorphism was found in both heterozygous and homozygous states in individuals with type I skin. The D84E allele was found in one individual with skin type I; this person also has the V92 M allele and thus is a compound heterozygote.

Original languageEnglish (US)
Pages (from-to)30-36
Number of pages7
JournalHuman mutation
Issue number1
StatePublished - 1997


  • extension locus
  • melanocyte stimulating hormone receptor
  • polymorphism
  • skin types

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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