GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001345
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
White Galloway and White Park cattle ; fully black
Trait State in Taxon B
White Galloway and White Park cattle ; mismarked white coat
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 ... 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?
Yes
Taxon A Description
White Galloway and White Park cattle ; fully black
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 ... 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
British White Park ; Brown Swiss ; Galloway with allele Cs29
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Molecular Details of the Mutation
duplication and aberrant insertion on chromosome 29
Experimental Evidence
Authors
Brenig B; Beck J; Floren C; Bornemann-Kolatzki K; Wiedemann I; Hennecke S; Swalve H; Schütz E
Abstract
White Galloway cattle exhibit three different white coat colour phenotypes, that is, well marked, strongly marked and mismarked. However, mating of individuals with the preferred well or strongly marked phenotype also results in offspring with the undesired mismarked and/or even fully black coat colour. To elucidate the genetic background of the coat colour variations in White Galloway cattle, we analysed four coat colour relevant genes: mast/stem cell growth factor receptor (KIT), KIT ligand (KITLG), melanocortin 1 receptor (MC1R) and tyrosinase (TYR). Here, we show that the coat colour variations in White Galloway cattle and White Park cattle are caused by a KIT gene (chromosome 6) duplication and aberrant insertion on chromosome 29 (Cs29 ) as recently described for colour-sided Belgian Blue. Homozygous (Cs29 /Cs29 ) White Galloway cattle and White Park cattle exhibit the mismarked phenotype, whereas heterozygous (Cs29 /wt29 ) individuals are either well or strongly marked. In contrast, fully black individuals are characterised by the wild-type chromosome 29. As known for other cattle breeds, mutations in the MC1R gene determine the red colouring. Our data suggest that the white coat colour variations in White Galloway cattle and White Park cattle are caused by a dose-dependent effect based on the ploidy of aberrant insertions and inheritance of the KIT gene on chromosome 29.

© 2013 The Authors, Animal Genetics © 2013 Stichting International Foundation for Animal Genetics.
Additional References
EXTERNAL LINKS
COMMENTS
@CNV @AllelicSeries ; Heterozygous are well or strongly marked with black ; https://omia.org/OMIA001576/9913/
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