Background: Myostatin (MSTN or GDF8) is a member of the transforming growth factor-beta superfamily that actively represses skeletal muscle growth. Myostatin null mice generated by gene targeting showed a 2- to 3-fold increase of muscle mass compared to wild type mice, primary due to an increased number of muscle fibers, followed my muscle cell hypertrophy and suppression of body fat accumulation. Several mutations disrupting the myostatin function or expression cause double-muscle phenotypes, muscle hypertrophy, birthing difficulties, increased growth rate and feed efficiency in cattle and sheep. The rabbit MSTN gene sequence has been recently assembled after the initiative of the Broad Institute that shot gun sequenced the rabbit genome (Ensembl Gene ID ENSOCUG00000012663 in the OryCun2 rabbit genome assembly). No study has been carried out so far to investigate its variability and the effects of MSTN polymorphisms on rabbit production traits. Polymorphism detection, genotyping and association analysis: We re-sequenced the rabbit MSTN gene for a total of 2394 bp including the 3 coding exons in 14 rabbits with different conformation and muscle mass and identified 4 single nucleotide polymorphisms (SNPs): one rare synonymous SNP in exon 1 (c.108C>T); one synonymous SNP in exon 2 (c.713T>A); one SNP in intron 2 (c.747+34C>T); one SNP in the 3’-UTR (c.*194A>G). Three SNPs (c.713T>A, c.747+34C>T and c.*194A>G) were genotyped by PCR-RFLP i) in 154 rabbits of different breeds to evaluate allele frequency distribution and ii) in a population of 524 performance tested rabbits of a paternal line reared in the test station of Gruppo Martini (Italy) to evaluate association with finishing weight. This latter group of rabbits consisted of 240 females and 284 males belonging to 257 litters obtained from 56 different bucks. Association analysis between the genotyped SNPs and weight of these animals measured at 70 days of age was carried out using the procedure MIXED of SAS version 8.02 with a model that included the buck as a random effect and the fixed effects of sex, litter and genotype. No significant association was obtained with the analysed markers. Comments: Sequencing (and bionformatic analyses, data not shown) did not reveal any putative functional polymorphisms. Association analysis with the most convenient trait (weight close to market age) used in paternal line selection programs (correlated with feed conversion ratio, meat and carcass traits) indicated that MSTN is not an important source of variability for performance traits, at least in the analysed rabbit population.
Fontanesi L., Scotti E., Frabetti A., Fornasini D., Piccone A., Russo V. (2011). Identification of polymorphisms in the rabbit (Oryctolagus cuniculus) myostatin (MSTN) gene and association analysis with finishing weight in a commercial rabbit population. ANIMAL GENETICS, 42, 339-339 [10.1111/j.1365-2052.2010.02163.x].
Identification of polymorphisms in the rabbit (Oryctolagus cuniculus) myostatin (MSTN) gene and association analysis with finishing weight in a commercial rabbit population
FONTANESI, LUCA;SCOTTI, EMILIO;RUSSO, VINCENZO
2011
Abstract
Background: Myostatin (MSTN or GDF8) is a member of the transforming growth factor-beta superfamily that actively represses skeletal muscle growth. Myostatin null mice generated by gene targeting showed a 2- to 3-fold increase of muscle mass compared to wild type mice, primary due to an increased number of muscle fibers, followed my muscle cell hypertrophy and suppression of body fat accumulation. Several mutations disrupting the myostatin function or expression cause double-muscle phenotypes, muscle hypertrophy, birthing difficulties, increased growth rate and feed efficiency in cattle and sheep. The rabbit MSTN gene sequence has been recently assembled after the initiative of the Broad Institute that shot gun sequenced the rabbit genome (Ensembl Gene ID ENSOCUG00000012663 in the OryCun2 rabbit genome assembly). No study has been carried out so far to investigate its variability and the effects of MSTN polymorphisms on rabbit production traits. Polymorphism detection, genotyping and association analysis: We re-sequenced the rabbit MSTN gene for a total of 2394 bp including the 3 coding exons in 14 rabbits with different conformation and muscle mass and identified 4 single nucleotide polymorphisms (SNPs): one rare synonymous SNP in exon 1 (c.108C>T); one synonymous SNP in exon 2 (c.713T>A); one SNP in intron 2 (c.747+34C>T); one SNP in the 3’-UTR (c.*194A>G). Three SNPs (c.713T>A, c.747+34C>T and c.*194A>G) were genotyped by PCR-RFLP i) in 154 rabbits of different breeds to evaluate allele frequency distribution and ii) in a population of 524 performance tested rabbits of a paternal line reared in the test station of Gruppo Martini (Italy) to evaluate association with finishing weight. This latter group of rabbits consisted of 240 females and 284 males belonging to 257 litters obtained from 56 different bucks. Association analysis between the genotyped SNPs and weight of these animals measured at 70 days of age was carried out using the procedure MIXED of SAS version 8.02 with a model that included the buck as a random effect and the fixed effects of sex, litter and genotype. No significant association was obtained with the analysed markers. Comments: Sequencing (and bionformatic analyses, data not shown) did not reveal any putative functional polymorphisms. Association analysis with the most convenient trait (weight close to market age) used in paternal line selection programs (correlated with feed conversion ratio, meat and carcass traits) indicated that MSTN is not an important source of variability for performance traits, at least in the analysed rabbit population.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
