GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000514
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Bos bovis
Trait State in Taxon B
Bos bovis - side-colored
Ancestral State
Data not curated
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
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; 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
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Belgian Blue Brown Swiss with Cs6 allele
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
Molecular Details of the Mutation
Copy Number Variation of <600kb segments encompassing KIT
Experimental Evidence
Main Reference
Authors
Durkin K; Coppieters W; Drögemüller C; Ahariz N; Cambisano N; Druet T; Fasquelle C; Haile A; et al.
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Abstract
Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips. It is also referred to as 'lineback' or 'witrik' (which means white back), as colour-sided animals typically display a white band along their spine. Colour sidedness is documented at least since the Middle Ages and is presently segregating in several cattle breeds around the globe, including in Belgian blue and brown Swiss. Here we report that colour sidedness is determined by a first allele on chromosome 29 (Cs(29)), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs(6)), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@CNV @AllelicSeries ; the colour-sided variant in yaks is due to introgression into yaks from Mongolian Turano cattle that have been herded with Mongolian yaks for more than 1500 years; enabling the backcrossing of female yak-cattle hybrids to male yaks. https://omia.org/OMIA001576/9913/
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