GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000687
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Bos taurus
Trait State in Taxon B
Bos taurus - Charolais
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?
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
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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 - Charolais
GENOTYPIC CHANGE
Generic Gene Name
MSTN
Synonyms
GDF8; MSLHP
String
Sequence Similarities
Belongs to the TGF-beta family.
GO - Molecular Function
GO:0042802 : identical protein binding
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GO - Biological Process
GO - Cellular Component
GO:0005737 : cytoplasm
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Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsense
Molecular Details of the Mutation
c.610C>T p.Q204*
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Glu | STP | 204 |
Main Reference
Authors
Grobet L; Poncelet D; Royo LJ; Brouwers B; Pirottin D; Michaux C; Ménissier F; Zanotti M; et al.
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Abstract
We have determined the entire myostatin coding sequence for 32 double-muscled cattle sampled from ten European cattle breeds. Seven DNA sequence polymorphisms were identified, of which five would be predicted to disrupt the function of the protein, one is a conservative amino acid substitution, and one a silent DNA sequence variant. Four additional DNA sequence polymorphisms were identified in myostatin intronic sequences. In all but two breeds, all double-muscled animals were either homozygous or compound heterozygotes for one of the five loss-of-function mutations. The absence of obvious loss-of-function mutations in the coding sequence of the two remaining breeds points either towards additional mutations in unexplored segments of the gene, or towards locus heterogeneity of double-muscling.
Additional References
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000683/9913/
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