GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001730
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
cattle - wild hair
Trait State in Taxon B
a few of the Hereford cattle - curly hair or hairless
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Hereford cattle
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
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
eight base pair deletion mutation in exon one of the keratin 71 (KRT71)
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
Related Haplotypes
No matches found.
COMMENTS
In afflicted Herefords the hair coat can be very short; fine; kinky; curly; or appear frosted and the tail switch can be underdeveloped Reference Gandolfi et al. only mentions this case in one sentence. The actual main reference for this case is a poster presentation - see https://portal.nifa.usda.gov/web/crisprojectpages/0213533-identification-of-the-causal-mutation-for-hypotrichosis-in-hereford-cattle.html
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