GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001105
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Acinonyx jubatus - spotted
Trait State in Taxon B
Acinonyx jubatus - King
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
cheetah
Synonyms
cheetah
Rank
species
Lineage
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Acinonychinae; Acinonyx
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cheetah
Synonyms
cheetah
Rank
species
Lineage
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Acinonychinae; Acinonyx
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Acinonyx jubatus - King
GENOTYPIC CHANGE
Generic Gene Name
Lvrn
Synonyms
Aqpep
String
Sequence Similarities
Belongs to the peptidase M1 family.
GO - Molecular Function
GO:0008270 : zinc ion binding
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GO - Biological Process
GO:0006508 : proteolysis
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GO - Cellular Component
GO:0016021 : integral component of membrane
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
1-9 bp
Molecular Details of the Mutation
1bp insertion resulting in frameshift p.N977Kfs110
Experimental Evidence
Authors
Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Küntzel A; Roelke ME; Pino J; et al.
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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
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@AllelicSeries https://omia.org/OMIA001721/32536/
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