Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w) ) and mottled (mo) plumage phenotypes in the chicken

PLoS One. 2014 Jan 23;9(1):e86361. doi: 10.1371/journal.pone.0086361. eCollection 2014.

Abstract

A mutation that confers white plumage with black eyes was identified in the Minohiki breed of Japanese native chicken (Gallus gallus domesticus). The white plumage, with a few partially pigmented feathers, was not associated with the tyrosinase gene, and displayed an autosomal recessive mode of inheritance against the pigmented phenotype. All F1 offspring derived from crosses with mottled chickens (mo/mo), which show characteristic pigmented feathers with white tips, had plumage with a mottled-like pattern. This result indicates that the white plumage mutation is a novel allele at the mo locus; we propose the gene symbol mo(w) for this mutant allele. Furthermore, the F1 hybrid between the mo(w) /mo(w) chicken and the panda (s/s) mutant of Japanese quail (Coturnix japonica), whose causative gene is the endothelin receptor B2 (EDNRB2) gene, showed a mo(w)/mo(w) chicken-like plumage, suggesting the possibility that the mutations in parental species are alleles of the same gene, EDNRB2. Nucleotide sequencing of the entire coding region of EDNRB2 revealed a non-synonymous G1008T substitution, which causes Cys244Phe amino acid substitution in exon 5 (which is part of the extracellular loop between the putative fourth and fifth transmembrane domains of EDNRB2) in the mutant chicken. This Cys244Phe mutation was also present in individuals of four Japanese breeds with white plumage. We also identified a non-synonymous substitution leading to Arg332His substitution that was responsible for the mottled (mo/mo) plumage phenotype. These results suggest that the EDN3 (endothelin 3)-EDNRB2 signaling is essential for normal pigmentation in birds, and that the mutations of EDNRB2 may cause defective binding of the protein with endothelins, which interferes with melanocyte differentiation, proliferation, and migration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Avian Proteins / genetics*
  • Avian Proteins / metabolism
  • Base Sequence
  • Binding Sites
  • Chickens / genetics*
  • Endothelins / physiology
  • Feathers / metabolism*
  • Female
  • Gene Expression
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Pigmentation*
  • Protein Binding
  • Receptor, Endothelin B / genetics*
  • Receptor, Endothelin B / metabolism
  • Sequence Analysis, DNA
  • Signal Transduction

Substances

  • Avian Proteins
  • Endothelins
  • Receptor, Endothelin B

Grant support

This research was supported by the National BioResource Project (NBRP) Chicken/Quail and Grants-in-Aid for Scientific Research on Innovative Areas (no. 23113004) and Scientific Research (B) (no. 20310143) from the Ministry of Education, Culture, Sports, Science and Technology, Japan, and grants from Keio University. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.