GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002026
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
cattle - wild hair
Trait State in Taxon B
cattle - curly hair karakul-type
Breeds: Ayrshire; Fleckvieh; German Angus; Montbeliarde
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
Breeds: Ayrshire; Fleckvieh; German Angus; Montbeliarde
GENOTYPIC CHANGE
Generic Gene Name
KRT27
Synonyms
K27; CK-27
Sequence Similarities
Belongs to the intermediate filament family.
UniProtKB
Bos taurus
GenebankID or UniProtKB
Presumptive Null
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
g.41636961C>G c.276C>G p.Asn92Lys
Experimental Evidence
Taxon A Taxon B Position
Codon AAC AAG 41636961
Amino-acid Asn Lys 92
Authors
Daetwyler HD; Capitan A; Pausch H; Stothard P; van Binsbergen R; Brøndum RF; Liao X; Djari A; et al. ... show more
Abstract
The 1000 bull genomes project supports the goal of accelerating the rates of genetic gain in domestic cattle while at the same time considering animal health and welfare by providing the annotated sequence variants and genotypes of key ancestor bulls. In the first phase of the 1000 bull genomes project, we sequenced the whole genomes of 234 cattle to an average of 8.3-fold coverage. This sequencing includes data for 129 individuals from the global Holstein-Friesian population, 43 individuals from the Fleckvieh breed and 15 individuals from the Jersey breed. We identified a total of 28.3 million variants, with an average of 1.44 heterozygous sites per kilobase for each individual. We demonstrate the use of this database in identifying a recessive mutation underlying embryonic death and a dominant mutation underlying lethal chrondrodysplasia. We also performed genome-wide association studies for milk production and curly coat, using imputed sequence variants, and identified variants associated with these traits in cattle.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
COMMENTS
https://omia.org/OMIA000246/9913/
YOUR FEEDBACK is welcome!