A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentation and cell surface expression in domestic rock pigeons (Columba livia)

PLoS One. 2013 Aug 15;8(8):e74475. doi: 10.1371/journal.pone.0074475. eCollection 2013.


Variation in the melanocortin-1 receptor (Mc1r) is associated with pigmentation diversity in wild and domesticated populations of vertebrates, including several species of birds. Among domestic bird species, pigmentation variation in the rock pigeon (Columbalivia) is particularly diverse. To determine the potential contribution of Mc1r variants to pigment diversity in pigeons, we sequenced Mc1r in a wide range of pigeon breeds and identified several single nucleotide polymorphisms, including a variant that codes for an amino acid substitution (Val85Met). In contrast to the association between Val85Met and eumelanism in other avian species, this change was associated with pheomelanism in pigeons. In vitro cAMP accumulation and protein expression assays revealed that Val85Met leads to decreased receptor function and reduced cell surface expression of the mutant protein. The reduced in vitro function is consistent with the observed association with reduced eumelanic pigmentation. Comparative genetic and cellular studies provide important insights about the range of mechanisms underlying diversity among vertebrates, including different phenotypic associations with similar mutations in different species.

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution*
  • Animals
  • Base Sequence
  • Cell Membrane / metabolism*
  • Columbidae / genetics*
  • Feathers / physiology
  • Haplotypes / genetics
  • Melanins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Open Reading Frames / genetics
  • Pigmentation / genetics*
  • Receptor, Melanocortin, Type 1 / chemistry
  • Receptor, Melanocortin, Type 1 / genetics*
  • Sequence Alignment


  • Melanins
  • Receptor, Melanocortin, Type 1
  • pheomelanin
  • eumelanin

Associated data

  • GENBANK/KF234242
  • GENBANK/KF234243
  • GENBANK/KF234244
  • GENBANK/KF234245
  • GENBANK/KF234246
  • GENBANK/KF234247
  • GENBANK/KF234248
  • GENBANK/KF234249
  • GENBANK/KF234250
  • GENBANK/KF234251
  • GENBANK/KF234252

Grants and funding

This work was supported by a Burroughs Wellcome Fund (www.bwfund.org) Career Award in the Biomedical Sciences and NSF (www.nsf.gov) CAREER Award DEB-1149160 to MDS; German Research Foundation (www.dfg.de) grant Sfb610 to TS; Mininger Grants from Goshen College (www.goshen.edu) to DAS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.