GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002202
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Quarter Horse
Trait State in Taxon B
Quarter Horse - white
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
String
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Molecular Function
GO:0004888 : transmembrane signaling receptor activity
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GO - Biological Process
GO:0043066 : negative regulation of apoptotic process
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GO - Cellular Component
GO:0005886 : plasma membrane
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
c.1126_1129delGAAC p.E376FfsX3
Experimental Evidence
Authors
Haase B; Brooks SA; Tozaki T; Burger D; Poncet PA; Rieder S; Hasegawa T; Penedo C; et al.
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Abstract
White coat colour in horses is inherited as a monogenic autosomal dominant trait showing a variable expression of coat depigmentation. Mutations in the KIT gene have previously been shown to cause white coat colour phenotypes in pigs, mice and humans. We recently also demonstrated that four independent mutations in the equine KIT gene are responsible for the dominant white coat colour phenotype in various horse breeds. We have now analysed additional horse families segregating for white coat colour phenotypes and report seven new KIT mutations in independent Thoroughbred, Icelandic Horse, German Holstein, Quarter Horse and South German Draft Horse families. In four of the seven families, only one single white horse, presumably representing the founder for each of the four respective mutations, was available for genotyping. The newly reported mutations comprise two frameshift mutations (c.1126_1129delGAAC; c.2193delG), two missense mutations (c.856G>A; c.1789G>A) and three splice site mutations (c.338-1G>C; c.2222-1G>A; c.2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@AllelicSeries @HeterozygoteAdvantage https://omia.org/OMIA000209/9796/
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