GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000069
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Coturnix japonica
Trait State in Taxon B
Coturnix japonica - yellow phenotype
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
No
Molecular Type
Aberration Type
Deletion Size
10-100 kb
Molecular Details of the Mutation
141162-bp deletion resulting in novel promoter sharing and expression of a RALY-ASIP fusion transcript
Experimental Evidence
Authors
Nadeau NJ; Minvielle F; Ito S; Inoue-Murayama M; Gourichon D; Follett SA; Burke T; Mundy NI
Abstract
ASIP is an important pigmentation gene responsible for dorsoventral and hair-cycle-specific melanin-based color patterning in mammals. We report some of the first evidence that the avian ASIP gene has a role in pigmentation. We have characterized the genetic basis of the homozygous lethal Japanese quail yellow mutation as a >90-kb deletion upstream of ASIP. This deletion encompasses almost the entire coding sequence of two upstream loci, RALY and EIF2B, and places ASIP expression under control of the RALY promoter, leading to the presence of a novel transcript. ASIP mRNA expression was upregulated in many tissues in yellow compared to wild type but was not universal, and consistent differences were not observed among skins of yellow and wild-type quail. In a microarray analysis on developing feather buds, the locus with the largest downregulation in yellow quail was SLC24A5, implying that it is regulated by ASIP. Finally, we document the presence of ventral skin-specific isoforms of ASIP mRNA in both wild-type quails and chickens. Overall, there are remarkable similarities between yellow in quail and lethal yellow in mouse, which involve a deletion in a similar genomic position. The presence of ventral-specific ASIP expression in birds shows that this feature is conserved across vertebrates.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000201/9615/
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