GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000101
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Domesticated cattle
Trait State in Taxon B
-
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 ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; 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
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
-
GENOTYPIC CHANGE
Generic Gene Name
KITLG
Synonyms
SF; MGF; SCF; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; SHEP7; DFNA69
Sequence Similarities
Belongs to the SCF family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Ala193Asp ; missense mutation at position 654 (nucleotide change not reported)
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Seitz JJ; Schmutz SM; Thue TD; Buchanan FC
Abstract
The Roan locus is responsible for the coat coloration of Belgian Blue and Shorthorn cattle. The solid-colored and white animals are homozygotes, and the roan animals, with intermingled colored and white hairs, are heterozygous. The roan phenotype was mapped to cattle Chromosome (Chr) 5 with microsatellites, and a candidate gene was proposed (Charlier et al. Mamm Genome 7, 138, 1996). PCR primers to the exons of this candidate gene, the steel locus or mast cell growth factor (MGF) were designed. Solid-colored and white animals were sequenced. A missense mutation at 654 bp (amino acid 193, Ala --> Asp) was detected in these two groups. A PCR-RFLP was designed to this single base pair change, and 143 animals in total (Belgian Blue, Shorthorn, and various other breeds) were screened. In addition, the Canadian Beef Cattle Reference Herd (http://skyway. usask.ca/ approximately schmutz) was used to verify Mendelian inheritance of this marker with the phenotypic inheritance of roan. Our data suggest that this mutation in the bovine MGF gene is responsible for the roan phenotype.
Additional References
COMMENTS
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