GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000525
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Felis catus
Trait State in Taxon B
Felis catus - Devon 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
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
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
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Felis catus - Devon Rex and hairless (Sphynx and Kohana breeds) - probable allelic series is KRT71+ > KRT71hr > KRT71re
GENOTYPIC CHANGE
Generic Gene Name
Krt71
Synonyms
Ca; Cu; Cal4; mK6irs; Krt2-6g; mK6irs1; AA589543; K6irs1; Kb34; Krt6g
Sequence Similarities
Belongs to the intermediate filament family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Mutation #1
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
c.816+1G>A at position 1 of intron 4 - disrupts the highly conserved “G” needed for the 5′ splice site recognition @Splicing
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Gandolfi B; Outerbridge CA; Beresford LG; Myers JA; Pimentel M; Alhaddad H; Grahn JC; Grahn RA; et al. ... show more
Abstract
Hair is a unique structure, characteristic of mammals, controlling body homeostasis, as well as cell and tissue integration. Previous studies in dog, mouse, and rat have identified polymorphisms in Keratin 71 (KRT71) as responsible for the curly/wavy phenotypes. The coding sequence and the 3' UTR of KRT71 were directly sequenced in randomly bred and pedigreed domestic cats with different pelage mutations, including hairless varieties. A SNP altering a splice site was identified in the Sphynx breed and suggested to be the hairless (hr) allele, and a complex sequence alteration, also causing a splice variation, was identified in the Devon Rex breed and suggested to be the curly (re) allele. The polymorphisms were genotyped in approximately 200 cats. All the Devon Rex were homozygous for the complex alterations and most of the Sphynx were either homozygous for the hr allele or compound heterozygotes with the Devon-associated re allele, suggesting that the phenotypes are a result of the identified SNPs. Two Sphynx carrying the proposed hr mutation did not carry the Devon-associated alteration. No other causative mutations for eight different rexoid and hairless cat phenotypes were identified. The allelic series KRT71( + ) > KRT71( hr ) > KRT71( re ) is suggested.
Additional References
Mutation #2
Presumptive Null
No
Molecular Type
Aberration Type
Indel Size
10-99 bp
Molecular Details of the Mutation
81-bp deletion plus two insertions of 8 and 1 bp starting at the 5′ end of intron 6 and involving exon 7
Experimental Evidence
Authors
Gandolfi B; Outerbridge CA; Beresford LG; Myers JA; Pimentel M; Alhaddad H; Grahn JC; Grahn RA; et al. ... show more
Abstract
Hair is a unique structure, characteristic of mammals, controlling body homeostasis, as well as cell and tissue integration. Previous studies in dog, mouse, and rat have identified polymorphisms in Keratin 71 (KRT71) as responsible for the curly/wavy phenotypes. The coding sequence and the 3' UTR of KRT71 were directly sequenced in randomly bred and pedigreed domestic cats with different pelage mutations, including hairless varieties. A SNP altering a splice site was identified in the Sphynx breed and suggested to be the hairless (hr) allele, and a complex sequence alteration, also causing a splice variation, was identified in the Devon Rex breed and suggested to be the curly (re) allele. The polymorphisms were genotyped in approximately 200 cats. All the Devon Rex were homozygous for the complex alterations and most of the Sphynx were either homozygous for the hr allele or compound heterozygotes with the Devon-associated re allele, suggesting that the phenotypes are a result of the identified SNPs. Two Sphynx carrying the proposed hr mutation did not carry the Devon-associated alteration. No other causative mutations for eight different rexoid and hairless cat phenotypes were identified. The allelic series KRT71( + ) > KRT71( hr ) > KRT71( re ) is suggested.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Splicing @AllelicSeries
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