GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000270
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Coturnix japonica
Trait State in Taxon B
Coturnix japonica - panda (white-spotting ; recessive)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Japanese quail
Synonyms
Coturnix coturnix Japonicus; Coturnix coturnix japanica; Coturnix coturnix japonica; Coturnix japonica japonica; Japanese quail; Coturnix japonica Temminck & Schlegel, 1849
Rank
species
Lineage
Show more ... ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Japanese quail
Synonyms
Coturnix coturnix Japonicus; Coturnix coturnix japanica; Coturnix coturnix japonica; Coturnix japonica japonica; Japanese quail; Coturnix japonica Temminck & Schlegel, 1849
Rank
species
Lineage
Show more ... ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Coturnix japonica - panda (white-spotting)
GENOTYPIC CHANGE
Generic Gene Name
Ednrb
Synonyms
ETb; ET-B; ET-BR; ETR-b; Sox10m1
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.995G>A p.R332H
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Arg His 332
Authors
Miwa M; Inoue-Murayama M; Aoki H; Kunisada T; Hiragaki T; Mizutani M; Ito S
Abstract
The panda mutant in Japanese quail (Coturnix japonica) displays spots of wild-type plumage on a white background and is controlled by an autosomal recessive allele (s). The dotted white is controlled by a third allele (s(dw)) of the s locus with s(dw)/s(dw) quail having less pigmentation than s/s quail. We mapped the s locus to the Japanese quail chromosome 4 (CJA04) in a previous study. The orthologous region of the chicken (Gallus gallus) genome includes endothelin receptor B2 (EDNRB2), an avian-specific paralog of endothelin receptor B (EDNRB). EDNRB mutations in mammals retard the migration of neural crest cells (NCCs), which results in a spotted coat colour and an enteric nervous defect. In the present study, we investigated the association between the s locus and EDNRB2 in Japanese quail. Sequence comparison among transcripts from livers of wild-type, panda and dotted white quail revealed a nucleotide substitution (c.995G>A) leading to a p.R332H amino acid change that was specific to panda, whereas no amino acid substitution was found in dotted white birds. The amino acid position 332 is located in the sixth transmembrane domain and is highly conserved in both avian and mammalian endothelin receptors. The A allele at nucleotide position 995 was specific to panda (s/s) birds among 10 strains, and was mapped to the same chromosomal region as the s locus. Quantitative RT-PCR revealed that EDNRB2 transcripts were reduced in both panda and dotted white mutants compared with wild-type. However, there was no difference between the early embryos of wild-type and panda with respect to the migration of NCCs. The genetic association of EDNRB2 with plumage colour in birds was found for the first time in this study.
Additional References
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000375/93934/
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