Skip to main navigation Skip to search Skip to main content

A premature stop mutation in the porcine myostatin gene is a candidate causative variant for a recessive leg weakness syndrome and affects muscle depth

Oswald Matika, Diego Robledo Sanchez, Ricardo Pong-Wong, John Woolliams, Stephen Bishop, Valentina Riggio, Annabelle Hoste, Grant A Walling, Alan Archibald, Ross Houston

Research output: Contribution to conference › Paper › peer-review

Abstract

Lameness in piglets is a major animal welfare and economic problem in pig production. Following observation of a high incidence of a leg weakness syndrome in a commercial pig lines, a variance components approach was used to assess the genetic basis of the condition. The results suggested a monogenic recessive mode of inheritance, and homozygosity mapping was used to identify a region associated with the leg weakness syndrome on SSC15. Whole genome resequencing of cases and controls identified an outstanding candidate mutation in this region which results in a premature stop codon within exon 3 of the porcine MSTN locus. Myostatin (MSTN) is a transforming growth factor-β family member that is a critical regulator of skeletal muscle development. Mutations in the MSTN gene lead to muscle hypertrophy and are responsible for the ‘double muscling’ phenotype observed in several mammalian species, and is a common target for gene editing experiments in farm animals. The candidate causal mutation in MSTN was in Hardy-Weinberg equilibrium at birth, but significantly distorted amongst animals still in the herd at 110 kg weight. In heterozygous form, the MSTN mutation was associated with a major increase in muscle depth and decrease in fat depth, explaining 31 and 18 % of the genetic variation respectively. MSTN ablation by gene editing in pigs is associated with problems of low piglet survival and lameness. Thus, in the current population, it is likely that this MSTN mutation was deleterious for piglet survival, but was maintained due to selection for increased muscle associated with heterozygous animals. The association between this MSTN mutation and fitness traits (leg weakness, survival) has clear implications for the potential use of gene editing of the porcine MSTN locus for increased meat production, and provide a plausible explanation for the lack of disrupting MSTN mutations in pigs despite intense selection for lean growth and their relatively high frequency in other species.


Keywords: pigs, leg weakness, MSTN, growth traits

Original languageEnglish
Pages297
Number of pages7
Publication statusPublished - 11 Feb 2018
Event11th World Congress on Genetics Applied to Livestock Production - Aotea Centre, Auckland, New Zealand
Duration: 11 Feb 2018 → 16 Feb 2018

Conference

Conference11th World Congress on Genetics Applied to Livestock Production
Abbreviated titleWCGALP
Country/TerritoryNew Zealand
CityAuckland
Period11/02/18 → 16/02/18

Keywords / Materials (for Non-textual outputs)

  • pigs
  • leg weakness
  • MSTN
  • growth traits

Access to Document

    Fingerprint

    Dive into the research topics of 'A premature stop mutation in the porcine myostatin gene is a candidate causative variant for a recessive leg weakness syndrome and affects muscle depth'. Together they form a unique fingerprint.
    View full fingerprint

    • ISP1: Analysis and prediction in complex animal systems

      Tenesa, A. (Principal Investigator), Archibald, A. (Co-investigator), Beard, P. (Co-investigator), Bishop, S. (Co-investigator), Bronsvoort, M. (Co-investigator), Burt, D. (Co-investigator), Freeman, T. (Co-investigator), Haley, C. (Co-investigator), Hocking, P. (Co-investigator), Houston, R. (Co-investigator), Hume, D. (Co-investigator), Joshi, A. (Co-investigator), Law, A. (Co-investigator), Michoel, T. (Co-investigator), Summers, K. (Co-investigator), Vernimmen, D. (Co-investigator), Watson, M. (Co-investigator), Wiener, P. (Co-investigator), Wilson, A. (Co-investigator), Woolliams, J. (Co-investigator), Ait-Ali, T. (Researcher), Barnett, M. (Researcher), Carlisle, A. (Researcher), Finlayson, H. (Researcher), Haga, I. (Researcher), Karavolos, M. (Researcher), Matika, O. (Researcher), Paterson, T. (Researcher), Paton, B. (Researcher), Pong-Wong, R. (Researcher), Robert, C. (Researcher) & Robertson, G. (Researcher)

      Biotechnology and Biological Sciences Research Council

      1/04/12 → 31/03/17

      Project: Research

    Cite this