GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001108
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Felis catus - western breeds
Trait State in Taxon B
Felis catus - western breeds
Ancestral State
Data not curated
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?
No
GENOTYPIC CHANGE
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
W841stop
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Küntzel A; Roelke ME; Pino J; et al. ... show more
Abstract
Color markings among felid species display both a remarkable diversity and a common underlying periodicity. A similar range of patterns in domestic cats suggests a conserved mechanism whose appearance can be altered by selection. We identified the gene responsible for tabby pattern variation in domestic cats as Transmembrane aminopeptidase Q (Taqpep), which encodes a membrane-bound metalloprotease. Analyzing 31 other felid species, we identified Taqpep as the cause of the rare king cheetah phenotype, in which spots coalesce into blotches and stripes. Histologic, genomic expression, and transgenic mouse studies indicate that paracrine expression of Endothelin3 (Edn3) coordinates localized color differences. We propose a two-stage model in which Taqpep helps to establish a periodic pre-pattern during skin development that is later implemented by differential expression of Edn3.
Additional References
COMMENTS
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