A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation and fatness in Norwegian White Sheep (Ovis aries) |
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| Authors: | I A Boman G Klemetsdal T Blichfeldt O Nafstad D I Våge |
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| Institution: | The Norwegian Association of Sheep and Goat Breeders, PO Box 2323, Solli, N-0201 Oslo, Norway;. Department of Animal and Aquacultural Sciences, Norwegian University of Life Sciences (UMB), PO Box 5003, N-1432 Ås, Norway;. Centre for Integrative Genetics (CIGENE), PO Box 5003, N-1432 Ås, Norway;. Animalia –Meat and Poultry Research Centre, PO Box 396, Økern, 0513 Oslo, Norway |
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| Abstract: | Mutations in the coding region of the myostatin gene ( MSTN ) are known to cause an increased muscle mass (IMM) phenotype in several mammals, including mice, dogs, cattle and humans. In sheep, a mutation in the 3'-UTR region introducing a microRNA target site has been reported to cause an IMM-like phenotype because of downregulation of translation. Here we report a novel single base deletion in the coding region of the myostatin gene causing an IMM phenotype in Norwegian White Sheep, characterized by a high carcass conformation class and low fat class (EUROP classification system). The deletion disrupts the reading frame from amino acid (aa) position 320, ending in a premature stop codon in aa position 359. In our material, these MSTN mutations segregated in a pattern showing that they reside in two different haplotypes. The phenotypic effect of the single base deletion is more profound than that of the 3'-UTR mutation. |
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| Keywords: | GDF8 increased muscle mass MSTN myostatin sheep |
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