GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000696
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Sus scrofa
Trait State in Taxon B
Sus scrofa - Pietrain
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
Show more ... ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
Show more ... hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Sus scrofa - Pietrain
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
Molecular Type
Aberration Type
Molecular Details of the Mutation
Possible promoter disruption
Experimental Evidence
Authors
Stinckens A; Luyten T; Bijttebier J; Van den Maagdenberg K; Dieltiens D; Janssens S; De Smet S; Georges M; et al. ... show more
Abstract
Myostatin (MSTN), a transforming growth factor beta superfamily member, is an essential factor for the growth and development of muscle mass. The protein functions as a negative regulator of muscle growth and is related to the so-called double-muscling phenotype in cattle, where a series of mutations renders the gene inactive. One particular breed of pigs, the Belgian Piétrain, also shows a heavily muscled phenotype. The similarity of muscular phenotypes between the double-muscled cattle and Piétrain pigs indicated that MSTN may be a candidate gene for muscular hypertrophy in pigs. In this study, we sequenced and analysed the complete MSTN gene from 45 pigs of five different breeds, including the heavily muscled Piétrain breed at one extreme and the Meishan and Wild boar breeds at the other extreme. In total, 7626 bp of the porcine MSTN gene were sequenced, including the 5' and 3' UTR. Fifteen polymorphic loci were found, three of which were located in the promoter region, five in intron 1 and seven in intron 2. Most mutations were found when comparing the obtained MSTN sequence with porcine MSTN sequences already published. However, one polymorphism located at position 447 of the porcine MSTN promoter had a very high allele frequency in the Piétrain pig breed and disrupted a putative myocyte enhancer factor 3 binding site. Real-time PCR using Sybr Green showed that this mutation was associated with expression levels of the MSTN gene in m. longissimus dorsi at an age of 4 weeks.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
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