GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000693
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Ovis aries
Trait State in Taxon B
Ovis aries; Norwegian White
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Ovis aries; Norwegian White
GENOTYPIC CHANGE
Generic Gene Name
MSTN
Synonyms
GDF8; MSLHP
Sequence Similarities
Belongs to the TGF-beta family.
GO - Biological Process
GO:0045893 : positive regulation of transcription, DNA-templated ... show more
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
1bp deletion resulting in a premature stop codon at position 320
Experimental Evidence
Authors
Boman IA; Klemetsdal G; Blichfeldt T; Nafstad O; Våge DI
Abstract
Mutations in the coding region of the myostatin gene (MSTN) are known to cause an increased muscle mass (IMM) phenotype in several mammals, including mice, dogs, cattle and humans. In sheep, a mutation in the 3'-UTR region introducing a microRNA target site has been reported to cause an IMM-like phenotype because of downregulation of translation. Here we report a novel single base deletion in the coding region of the myostatin gene causing an IMM phenotype in Norwegian White Sheep, characterized by a high carcass conformation class and low fat class (EUROP classification system). The deletion disrupts the reading frame from amino acid (aa) position 320, ending in a premature stop codon in aa position 359. In our material, these MSTN mutations segregated in a pattern showing that they reside in two different haplotypes. The phenotypic effect of the single base deletion is more profound than that of the 3'-UTR mutation.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
2
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