GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001973
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Coturnix japonica
Trait State in Taxon B
Coturnix japonica - fawn2 and beige phenotypes
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
Insertion Size
10-100 kb
Molecular Details of the Mutation
71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene which leads to a transcript coding for a normal ASIP protein
Experimental Evidence
Authors
Robic A; Morisson M; Leroux S; Gourichon D; Vignal A; Thebault N; Fillon V; Minvielle F; et al. ... show more
Abstract
In quail, two feather colour phenotypes i.e. fawn-2/beige and yellow are associated with the ASIP locus. The aim of our study was to characterize the structural modifications within this locus that explain the yellow mutation (large deletion) and the fawn-2/beige mutation (assumed to be caused by a different structural modification).

For the yellow phenotype, we identified a complex mutation that involves a 141,162-bp long deletion. For the fawn-2/beige phenotype, we identified a 71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene, which leads to a transcript coding for a normal ASIP protein. Although this agrees with previous reports that reported an increased level of ASIP transcripts in the skin of mutant animals, we show that in the skin from fawn-2/beige embryos, this level is higher than expected with a simple duplication of the ASIP gene. Thus, we hypothesize that the 5' region of the ITCH-ASIP fusion gene leads to a higher transcription level than the 5' region of the ASIP gene.

We were able to conclude that the fawn-2 and beige phenotypes are caused by the same allele at the ASIP locus. Both of the associated mutations fawn-2/beige and yellow lead to the formation of a fusion gene, which encodes a transcript for the ASIP protein. In both cases, transcription of ASIP depends on the promoter of a different gene, which includes alternative up-regulating sequences. However, we cannot exclude the possibility that the loss of the 5' region of the ASIP gene itself has additional impacts, especially for the fawn-2/beige mutation. In addition, in several other species including mammals, the existence of other dominant gain-of-function structural modifications that are localized upstream of the ASIP coding sequences has been reported, which supports our hypothesis that repressors in the 5' region of ASIP are absent in the fawn-2/beige mutant.
Additional References
COMMENTS
https://omia.org/OMIA000201/9615/
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