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See detailCharacterization of the complete porcine MSTN gene and expression levels in pig breeds differing in muscularity.
Stinckens, A.; Luyten, T.; Bijttebier, J. et al

in Animal Genetics (2008), 39(6), 586-96

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 ... [more ▼]

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 Pietrain, also shows a heavily muscled phenotype. The similarity of muscular phenotypes between the double-muscled cattle and Pietrain 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 Pietrain 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 Pietrain 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. [less ▲]

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See detailThe RYR1 g.1843C>T mutation is associated with the effect of the IGF2 intron3-g.3072G>A mutation on muscle hypertrophy.
Stinckens, A.; Van den Maagdenberg, K.; Luyten, T. et al

in Animal Genetics (2007), 38(1), 67-71

Muscle growth is a complex phenomenon regulated by many factors, whereby net growth results from the combined action of synthesis and turnover. In pigs, two quantitative trait nucleotides (QTN) are known ... [more ▼]

Muscle growth is a complex phenomenon regulated by many factors, whereby net growth results from the combined action of synthesis and turnover. In pigs, two quantitative trait nucleotides (QTN) are known to have an important influence on muscle growth and fat deposition: one QTN is located in the ryanodine receptor 1 (RYR1) gene (RYR1 g.1843C>T) and the other, a paternally expressed QTN, is in the insulin-like growth factor 2 (IGF2) gene (IGF2 intron3-g.3072G>A). The mutation in IGF2 abrogates in vitro interaction with a repressor, which leads to a threefold increase of IGF2 expression in post-natal muscle. The family of the calpains, a family of Ca(2+)-sensitive muscle endopeptidases, and their specific inhibitor calpastatin play an important role in post-natal protein degradation, also influencing muscle and carcass traits. This study investigated the possible interactions between the genotypes of the RYR1 and IGF2 QTN on IGF2 expression. Samples were taken from several muscles and from pigs at several ages, and messenger RNA expression levels were measured using a real-time quantification assay. IGF2 expression in m. longissimus dorsi of animals with mutations in both IGF2 and RYR1 was significantly lower than in animals that inherited the IGF2 mutation but were homozygous wildtype for RYR1. [less ▲]

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