Abstract
We have determined the entire myostatin coding sequence for 32 double-muscled cattle sampled from ten European cattle breeds. Seven DNA sequence polymorphisms were identified, of which five would be predicted to disrupt the function of the protein, one is a conservative amino acid substitution, and one a silent DNA sequence variant. Four additional DNA sequence polymorphisms were identified in myostatin intronic sequences. In all but two breeds, all double-muscled animals were either homozygous or compound heterozygotes for one of the five loss-offunction mutations. The absence of obvious loss-of-function mutations in the coding sequence of the two remaining breeds points either towards additional mutations in unexplored segments of the gene, or towards locus heterogeneity of double-muscling.
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Charlier C, Coppieters W, Farnir F, Grabet L, Leroy P, Michaux C, Mni M, Schwers A, Vanmanshoven P, Hanset R, Georges M (1995) The mh gene causing double-muscling in cattle maps to bovine chromosome 2. Mammalian Genome, 6, 788–792
Cockett NE, Jackson SP, Shay TD, Nielsen D, Green RD, Georges M (1994) Chromosomal localization of the callipyge gene in sheep (Ovis aries) using bovine DNA markers. Proc Nat Acad Sci USA 91, 3019–3023
Cockett NE, Jackson SP, Shay TD, Farnir F, Berghmans S, Snowder G, Nielsen D, Georges M (1996) Polar overdominance at the ovine callipyge locus. Science 273, 236–238
Culley G (1807) Observations of Livestock, 4th ed. (London: G. Woodfall)
Dunner S, Charlier C, Farnir F, Brouwers B, Canon J, Georges M (1997) Towards interbreed IBD fine mapping of the mh locus: double-muscling in the Asturiana de los Valles breed involves the same locus as in the Belgian Blue cattle breed. Mamm Genome 8, 430–435
Fuji J, Otsu K, Zorzato F, Deleon S, Khanna VK, Weiler JE, O’Brien PJ, MacLennan DH (1991) Identification of a mutation in the porcine ryanodine receptor associated with malignant hyperthermia. Science 253, 448–451
Georges M, Andersson L (1996) Livestock genomics comes of age. Genome Res, in press
Grobet L, Royo Martin LJ, Poncelet D, Pirottin D, Brouwers B, Riquet J, Schoeberlein A, Dunner S, Menissier F, Massabanda J, Fries R, Hanset R, Georges M (1997) A deletion in the myostatin gene causes double-muscling in cattle. Nature Genet 17, 71–74
Hanset R (1991) The major gene of muscular hypertrophy in the Belgian Blue Cattle breed. In Breeding for Disease Resistance in Farm Animals, JB Owen, RFE Axford (eds.) (: CAB International), pp 476–478
Hanset R, Michaux C (1985a) On the genetic determinism of muscular hypertrophy in the Belgian White and Blue cattle breed. I. Experimental data. Genet Sel Evol (Paris) 17, 359–368
Hanset R, Michaux C (1985b) On the genetic determinism of muscular hypertrophy in the Belgian White and Blue cattle breed. II. Population data. Genet Sel Evol (Paris) 17: 369–386
Kambadur R, Sharma M, Smith TPL, Bass JJ (1997) Mutations in myostatin (GDF8) in double-muscled Belgian Blue Cattle. Genome Res 7, 910–916
McPherron AC, Lee S-J (1996) The transforming growth factor β super-family. In Growth Factors and Cytokines in Health and Disease, Vol 1B. (: JAI Press Inc.), pp 357–393
McPherron AC, Lawler AM, Lee S-J (1997) Regulation of skeletal muscle mass in mice by a new TGFβ superfamily member. Nature 387, 83–90
Ménissier F (1982) Present state of knowledge about the genetic determination of muscular hypertrophy or the double muscled trait in cattle. In Curr Top Vet Med Anim Sci 16, 387–428
Varga L, Szabo G, Darvasi A, Müller G, Sass M, Soller M (1997) Inheritance and mapping of compact (Cmpt), a new mutation causing hyper-muscularity in mice. Genetics, in press
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Grobet, L., Poncelet, D., Royo, L.J. et al. Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle. Mammalian Genome 9, 210–213 (1998). https://doi.org/10.1007/s003359900727
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DOI: https://doi.org/10.1007/s003359900727