A single amino acid mutation contributes to adaptive beach mouse color pattern

Science. 2006 Jul 7;313(5783):101-4. doi: 10.1126/science.1126121.


Natural populations of beach mice exhibit a characteristic color pattern, relative to their mainland conspecifics, driven by natural selection for crypsis. We identified a derived, charge-changing amino acid mutation in the melanocortin-1 receptor (Mc1r) in beach mice, which decreases receptor function. In genetic crosses, allelic variation at Mc1r explains 9.8% to 36.4% of the variation in seven pigmentation traits determining color pattern. The derived Mc1r allele is present in Florida's Gulf Coast beach mice but not in Atlantic coast mice with similar light coloration, suggesting that different molecular mechanisms are responsible for convergent phenotypic evolution. Here, we link a single mutation in the coding region of a pigmentation gene to adaptive quantitative variation in the wild.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adaptation, Biological
  • Alleles
  • Amino Acid Substitution
  • Animals
  • Cell Line
  • Crosses, Genetic
  • Cyclic AMP / metabolism
  • Female
  • Florida
  • Gene Frequency
  • Genotype
  • Hair
  • Hair Color / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Peromyscus / genetics*
  • Phenotype
  • Pigmentation / genetics*
  • Polymorphism, Single Nucleotide
  • Principal Component Analysis
  • Receptor, Melanocortin, Type 1 / chemistry
  • Receptor, Melanocortin, Type 1 / genetics*
  • Receptor, Melanocortin, Type 1 / metabolism
  • Sequence Analysis, DNA


  • Receptor, Melanocortin, Type 1
  • Cyclic AMP

Associated data

  • GENBANK/DQ482848
  • GENBANK/DQ482850