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Cited by 1,204Genetic and phenotypic traits in livestockMuscle Physiology and DisordersMeat and Animal Product Quality

Mutations in myostatin ( GDF8 ) in Double-Muscled Belgian Blue and Piedmontese Cattle

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Kambadur, Ravi, Sharma, Mridula, Smith, Timothy P.L., Bass, John J.·1997·Genome Research
DOI 10.1101/gr.7.9.910
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Abstract

A visibly distinct muscular hypertrophy (mh), commonly known as double muscling, occurs with high frequency in the Belgian Blue and Piedmontese cattle breeds. The autosomal recessive mh locus causing double-muscling condition in these cattle maps to bovine chromosome 2 within the same interval as myostatin, a member of the TGF-β superfamily of genes. Because targeted disruption of myostatin in mice results in a muscular phenotype very similar to that seen in double-muscled cattle, we have evaluated this gene as a candidate gene for double-muscling condition by cloning the bovine myostatin cDNA and examining the expression pattern and sequence of the gene in normal and double-muscled cattle. The analysis demonstrates that the levels and timing of expression do not appear to differ between Belgian Blue and normal animals, as both classes show expression initiating during fetal development and being maintained in adult muscle. Moreover, sequence analysis reveals mutations in heavy-muscled cattle of both breeds. Belgian Blue cattle are homozygous for an 11-bp deletion in the coding region that is not detected in cDNA of any normal animals examined. This deletion results in a frame-shift mutation that removes the portion of the Myostatin protein that is most highly conserved among TGF-β family members and that is the portion targeted for disruption in the mouse study. Piedmontese animals tested have a G–A transition in the same region that changes a cysteine residue to a tyrosine. This mutation alters one of the residues that are hallmarks of the TGF-β family and are highly conserved during evolution and among members of the gene family. It therefore appears likely that the mh allele in these breeds involves mutation within the myostatin gene and that myostatin is a negative regulator of muscle growth in cattle as well as mice. [The sequence data for bovine myostatin has been submitted to GenBank under accession no. AF019761 .]

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Crossref · 10.1101/gr.7.9.910

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  • Knockout of myostatin or its loss-of-function mutation resulted in a doubling of muscle size in mice and cattle.

    “In skeletal muscle, the knockout of myostatin (gene symbol Gdf8 , a TGFβ-related ligand) or its 'natural' loss-of-function mutation resulted in a doubling of the muscle size in mice and cattle, respectively (48, 69, 95, 96).”

    From The Hippo signal transduction network for exercise physiologists (2016) · cites this paper as [69]

    The Abstract and Discussion report enlarged muscles in myostatin-knockout mice and increased musculature associated with myostatin mutations in Belgian Blue and Piedmontese cattle (pages unavailable in our copy). They do not establish a doubling of muscle size: the Abstract says affected cattle have about 20% more muscle on average and nearly twice the number of muscle fibers at birth. (LLM, conf=0.88)

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  • The function of MSTN has been strongly conserved through evolution, as targeted or naturally occurring mutations in cattle, sheep, dogs, rabbits, rats, swine, and goats have all been shown to lead to increased muscling.

    “The function of MSTN has been strongly conserved through evolution, as targeted or naturally occurring mutations in cattle (3–5), sheep (6), dogs (7), rabbits (8), rats (9), swine (10), and goats (11) have all been shown to lead to increased muscling.”

    From Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight (2020) · cites this paper as [5]

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Research works printed but not linked: 2

  1. Smith, J.W. King, and J.C. McKay), pp. 71-80. Oxford University Press, Oxford, UK.
  2. Hanset, R., M. Ansay, and M. Jandrain. 1977. Morphology of the double-muscled calf-discrimination between the double-muscled and the normal. In Cross-breeding experiments and strategy of beef utilisation to increase beef production (ed. J.L. Mason and W. Pabst), pp. 399-411. Commission of the European Communities, Luxembourg.

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Authors
Kambadur, R., Sharma, M., Smith, T. P. L., & Bass, J. J.
Affiliations
  • AgResearch (NZ)
  • Agricultural Research Service (US)
ORCID
Smith, Timothy P.L.
Venue
Genome Research
Publisher
Cold Spring Harbor Laboratory
Published
1997-09-01
Volume
7
Issue
9
Pages
910-915
ISSN
  • 1088-9051 (ISSN-L)
  • 1549-5469
DOI
10.1101/gr.7.9.910
OpenAlex
W2130122556
Cited by
1,204
References
19
Citations by year
2026: 19 · 2025: 32 · 2024: 32 · 2023: 31 · 2022: 50 · 2021: 46 · 2020: 47 · 2019: 36 · 2018: 39 · 2017: 35 · 2016: 52 · 2015: 43 · 2014: 55 · 2013: 57 · 2012: 55
Type
posted content
Language
en
Open access
Locations
  • Genome Research (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
  • Life Sciences › Agricultural and Biological Sciences › Animal Science and Zoology › Meat and Animal Product Quality
Keywords
myostatin, double muscling, Belgian Blue cattle, Piedmontese cattle, muscle hypertrophy, TGF-beta superfamily, frameshift mutation, muscle growth regulation, gene expression, candidate genes
MeSH terms
Alleles, Amino Acid Sequence, Animals, Cattle, Genes, Hypertrophy, Molecular Sequence Data, Muscles, Phenotype, RNA, Species Specificity, Gene Expression, Polymerase Chain Reaction, Transforming Growth Factor beta, Frameshift Mutation, Conserved Sequence, Sequence Homology, Amino Acid, Sequence Analysis, DNA, DNA, Complementary, Mice, Myostatin

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