GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001152
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Coturnix japonica
Trait State in Taxon B
Coturnix japonica - roux
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
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
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ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
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
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ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Coturnix japonica - roux
GENOTYPIC CHANGE
Generic Gene Name
Tyrp1
Synonyms
b; isa; Oca3; TRP1; Tyrp; TRP-1; brown; Tyrp-1
String
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity
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GO - Biological Process
GO:0032438 : melanosome organization
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GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Phe282Ser
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Phe | Ser | 282 |
Main Reference
Authors
Nadeau NJ; Mundy NI; Gourichon D; Minvielle F
Abstract
We investigated TYRP1 as a candidate locus for the recessive, sex-linked roux (br(r)) phenotype in Japanese quail. A screen of the entire coding sequence of TYRP1 in roux and wild-type quail revealed a non-synonymous T-to-C substitution in exon 3, leading to a Phe282Ser mutation. This was perfectly associated with plumage phenotype: all roux birds were homozygous for Ser282. Co-segregation of the Phe282Ser mutation with the roux phenotype was confirmed in three br(r)/BR+ x br(r)/- backcrosses. We found no significant difference in TYRP1 expression between roux and wild-type birds, suggesting that this association is not due to linkage disequilibrium with an unknown regulatory mutation. In addition, the Phe282 amino acid appears to be of functional significance, as it is highly conserved across the vertebrates. This is the first demonstration that TYRP1 has a role in pigmentation in birds.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001322/93934/
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