GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002254
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT Feathering
Trait State in Taxon B
Silky/Silkie feathering (recessive)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
-
Synonyms
-
String
-
Sequence Similarities
-
GO - Molecular Function
-
GO - Biological Process
-
GO - Cellular Component
-
UniProtKB
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
Molecular Details of the Mutation
Only variant explaining homozygous phenotype is c.-103C>G and shown to reduce PDSS2 promoter activity in vitro
Experimental Evidence
Authors
Feng C; Gao Y; Dorshorst B; Song C; Gu X; Li Q; Li J; Liu T; et al. ... show more
Abstract
Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.
Additional References
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000913/9031/
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