GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002028
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Domesticated cattle
Trait State in Taxon B
Domesticated cattle with coat colour dilution
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
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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?
Yes
Taxon A Description
Holstein
Taxon B #1
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
Hereford
Taxon B #2
Latin Name
Common Name
domestic yak
Synonyms
Bos mutus grunniens; Poephagus grunniens; domestic yak; yak
Rank
species
Lineage
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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?
No
GENOTYPIC CHANGE
Generic Gene Name
PMEL
Synonyms
SILV; PMEL17; RPE1
String
Sequence Similarities
Belongs to the PMEL/NMB family.
GO - Molecular Function
-
GO - Biological Process
GO:0042438 : melanin biosynthetic process
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GO - Cellular Component
GO:0005887 : integral component of plasma membrane
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UniProtKB
Bos taurus
Bos taurus
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del
Experimental Evidence
Authors
Jolly RD; Wills JL; Kenny JE; Cahill JI; Howe L
Abstract
To investigate cases of coat-colour dilution and hypotrichosis in a group of Hereford x Friesian crossbred calves, and to define the underlying molecular genetics of the disorder.
The investigation was predicated on the hypothesis that this disorder was similar to a known dominantly inherited disorder of calves of black breeds crossed with Simmental cattle, for which there were candidate gene mutations. Sequence analyses of PCR amplicons from exon 1 and exon 11 of the premelanosome protein 17 gene (PMel17) were carried out. Restriction enzyme digestions of amplicons were followed using electrophoresis of digested fragments.
It was shown that an affected calf and its Hereford sire were heterozygous for a three-base deletion in exon 1 of the PMel17 gene. These two animals were also heterozygous for a second mutation in exon 11 of the PMel17 gene. Four other related animals were likewise heterozygous for both mutations in the sire's herd of origin.
Coat-colour dilution and hypotrichosis in Hereford crossbred calves in New Zealand is the same genetic disorder as that previously described in Simmental crossbred calves, and is linked to mutations in the PMel17 gene.
The investigation was predicated on the hypothesis that this disorder was similar to a known dominantly inherited disorder of calves of black breeds crossed with Simmental cattle, for which there were candidate gene mutations. Sequence analyses of PCR amplicons from exon 1 and exon 11 of the premelanosome protein 17 gene (PMel17) were carried out. Restriction enzyme digestions of amplicons were followed using electrophoresis of digested fragments.
It was shown that an affected calf and its Hereford sire were heterozygous for a three-base deletion in exon 1 of the PMel17 gene. These two animals were also heterozygous for a second mutation in exon 11 of the PMel17 gene. Four other related animals were likewise heterozygous for both mutations in the sire's herd of origin.
Coat-colour dilution and hypotrichosis in Hereford crossbred calves in New Zealand is the same genetic disorder as that previously described in Simmental crossbred calves, and is linked to mutations in the PMel17 gene.
Additional References
RELATED GEPHE
Related Haplotypes
EXTERNAL LINKS
COMMENTS
@AllelicSeries @Parallelism https://omia.org/OMIA001545/9913/
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