GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000694
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Ovis aries
Trait State in Taxon B
Ovis aries; Norwegian Spaelsau
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 Spaelsau
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
Insertion Size
1-9 bp
Molecular Details of the Mutation
1bp insertion resulting in premature stop codon at position 49
Experimental Evidence
Authors
Boman IA; Våge DI
Abstract
A phenotype of increased muscle mass (IMM) and reduced fat, comparable to reported effects of deleterious mutations in the myostatin gene (MSTN), has been observed in the Norwegian Spaelsau breed. However, the genotyping of five AI rams producing descendants with this phenotype, failed to reveal any of the known functional MSTN mutations.

In the present study, the coding region of the MSTN gene was sequenced in a Spaelsau ram lamb with this particular phenotype. A one base-pair insertion mutation (c.120insA) producing a premature stop codon in amino acid position 49 was identified. The consequence of this mutation is that the bioactive carboxy-terminal end of the protein is not translated, and a completely non-functional myostatin protein is produced. Among the 98 available AI rams of this breed, all five individuals having descendants with this particular phenotype were found to be heterozygous for the c.120insA mutation. The probability that these five selected AI rams should be heterozygous carriers of the c.120insA mutation purely by chance was calculated to be 3.1 x 10-7. In total, 7 AI rams were found to be heterozygous carriers of c.120insA. The estimated breeding values (EBVs) for EUROP carcass conformation and fat class for these 7 individuals also points towards a strong phenotypic effect of this mutation.

Based upon the completely deleterious effect this novel c.120insA mutation has on myostatin protein function, and the documented phenotypic effect of comparable MSTN mutations in Norwegian White Sheep and other species, we conclude that this mutation is the functional explanation underlying the IMM phenotype in Norwegian Spaelsau. The allele distribution among the 98 genotyped AI rams support this conclusion, and also suggests that c.120insA is the most common reason for this phenotype in the Norwegian Spaelsau breed.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
2
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