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

Keiji Kinoshita, Toyoko Akiyama, Makoto Mizutani, Ai Shinomiya, Akira Ishikawa, Hassan Hassan Younis, Masaoki Tsudzuki, Takao Namikawa, Yoichi Matsuda

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 mow for this mutant allele. Furthermore, the F1 hybrid between the mow/mow chicken and the panda (s/s) mutant of Japanese quail (Coturnix japonica), whose causative gene is the endothelin receptor B2 (EDNRB2 ) gene, showed a mow/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.

Original languageEnglish
Article numbere86361
JournalPLoS One
Volume9
Issue number1
DOIs
Publication statusPublished - 2014 Jan 23

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Endothelin Receptors
endothelins
Monophenol Monooxygenase
plumage
Chickens
chickens
Phenotype
phenotype
Genes
receptors
Substitution reactions
Mutation
Coturnix
Feathers
mutation
Alleles
alleles
genes
feathers
Endothelin-3

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Endothelin receptor B2 ( EDNRB2) is responsible for the tyrosinase-independent recessive white (mow) and mottled (mo) plumage phenotypes in the chicken. / Kinoshita, Keiji; Akiyama, Toyoko; Mizutani, Makoto; Shinomiya, Ai; Ishikawa, Akira; Younis, Hassan Hassan; Tsudzuki, Masaoki; Namikawa, Takao; Matsuda, Yoichi.

In: PLoS One, Vol. 9, No. 1, e86361, 23.01.2014.

Research output: Contribution to journalArticle

Kinoshita, K, Akiyama, T, Mizutani, M, Shinomiya, A, Ishikawa, A, Younis, HH, Tsudzuki, M, Namikawa, T & Matsuda, Y 2014, 'Endothelin receptor B2 ( EDNRB2) is responsible for the tyrosinase-independent recessive white (mow) and mottled (mo) plumage phenotypes in the chicken', PLoS One, vol. 9, no. 1, e86361. https://doi.org/10.1371/journal.pone.0086361
Kinoshita, Keiji ; Akiyama, Toyoko ; Mizutani, Makoto ; Shinomiya, Ai ; Ishikawa, Akira ; Younis, Hassan Hassan ; Tsudzuki, Masaoki ; Namikawa, Takao ; Matsuda, Yoichi. / Endothelin receptor B2 ( EDNRB2) is responsible for the tyrosinase-independent recessive white (mow) and mottled (mo) plumage phenotypes in the chicken. In: PLoS One. 2014 ; Vol. 9, No. 1.
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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 mow for this mutant allele. Furthermore, the F1 hybrid between the mow/mow chicken and the panda (s/s) mutant of Japanese quail (Coturnix japonica), whose causative gene is the endothelin receptor B2 (EDNRB2 ) gene, showed a mow/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.",
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AU - Mizutani, Makoto

AU - Shinomiya, Ai

AU - Ishikawa, Akira

AU - Younis, Hassan Hassan

AU - Tsudzuki, Masaoki

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