GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000068
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Coturnix japonica
Trait State in Taxon B
Coturnix japonica - recessive black
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?
No
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
8bp frameshift deletion
Experimental Evidence
Authors
Hiragaki T; Inoue-Murayama M; Miwa M; Fujiwara A; Mizutani M; Minvielle F; Ito S
Abstract
The recessive black plumage mutation in the Japanese quail (Coturnix japonica) is controlled by an autosomal recessive gene (rb) and displays a blackish-brown phenotype in the recessive homozygous state (rb/rb). A similar black coat color phenotype in nonagouti mice is caused by an autosomal recessive mutation at the agouti locus. An allelism test showed that wild type and mutations for yellow, fawn-2, and recessive black in Japanese quail were multiple alleles (*N, *Y, *F2, and *RB) at the same locus Y and that the dominance relationship was Y*F2 > Y*Y > Y*N > Y*RB. A deletion of 8 bases was found in the ASIP gene in the Y*RB allele, causing a frameshift that changed the last six amino acids, including a cysteine residue, and removed the normal stop codon. Since the cysteine residues at the C terminus are important for disulphide bond formation and tertiary structure of the agouti signaling protein, the deletion is expected to cause a dysfunction of ASIP as an antagonist of alpha-MSH in the Y*RB allele. This is the first evidence that the ASIP gene, known to be involved in coat color variation in mammals, is functional and has a similar effect on plumage color in birds.
Additional References
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