GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002232
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT hair
Trait State in Taxon B
Curly coat in Selkirk rex
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
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thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ...
thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Krt71
Synonyms
Ca; Cu; Cal4; mK6irs; Krt2-6g; mK6irs1; AA589543; K6irs1; Kb34; Krt6g
String
Sequence Similarities
Belongs to the intermediate filament family.
GO - Molecular Function
GO - Biological Process
GO:0031069 : hair follicle morphogenesis
... show more
GO - Cellular Component
GO:0005737 : cytoplasm
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
-
Molecular Details of the Mutation
c.445-1G>C in splice site likely disrupts the highly conserved acceptor splicing site of intron one. Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - |
| Amino-acid | - | - | - |
Main Reference
Authors
Gandolfi B; Alhaddad H; Joslin SE; Khan R; Filler S; Brem G; Lyons LA
Abstract
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case - control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair and Persian, to localize the Selkirk autosomal dominant rexoid locus (SADRE). Although the control cats were from different breed lineages, they share recent breeding histories and were validated as controls by Bayesian clustering, multi-dimensional scaling and genomic inflation. A significant association was found on cat chromosome B4 (Praw = 2.87 × 10(-11)), and a unique haplotype spanning ~600 Kb was found in all the curly coated cats. Direct sequencing of four candidate genes revealed a splice site variant within the KRT71 gene associated with the hair abnormality in Selkirk Rex.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
EXTERNAL LINKS
COMMENTS
@AllelicSeries @Splicing https://omia.org/OMIA001712/9685/
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