GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000222
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Bos taurus Holstein
Trait State in Taxon B
Bos taurus Friesian
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?
Yes
Taxon A Description
Bos taurus Holstein
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
Bos taurus Friesian
GENOTYPIC CHANGE
Generic Gene Name
Dgat1
Synonyms
ARAT; Dgat; C75990; D15Ertd23e
String
Sequence Similarities
Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.
GO - Molecular Function
GO:0003846 : 2-acylglycerol O-acyltransferase activity
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GO - Biological Process
GO:0055089 : fatty acid homeostasis
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GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
K232A
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - |
| Amino-acid | - | - | - |
Authors
Grisart B; Coppieters W; Farnir F; Karim L; Ford C; Berzi P; Cambisano N; Mni M; et al.
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Abstract
We recently mapped a quantitative trait locus (QTL) with a major effect on milk composition--particularly fat content--to the centromeric end of bovine chromosome 14. We subsequently exploited linkage disequilibrium to refine the map position of this QTL to a 3-cM chromosome interval bounded by microsatellite markers BULGE13 and BULGE09. We herein report the positional candidate cloning of this QTL, involving (1) the construction of a BAC contig spanning the corresponding marker interval, (2) the demonstration that a very strong candidate gene, acylCoA:diacylglycerol acyltransferase (DGAT1), maps to that contig, and (3) the identification of a nonconservative K232A substitution in the DGAT1 gene with a major effect on milk fat content and other milk characteristics.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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