A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs

By Dana S. Mosher, P. Quignon, Carlos D. Bustamante, N. Sutter, C. Mellersh, H. Parker, E. Ostrander. PLoS Genetics, 2007

815 citations recorded by the source corpus.

Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe a new mutation in MSTN found in the whippet dog breed that results in a double-muscled phenotype known as the “bully” whippet. Individuals with this phenotype carry two copies of a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313. Individuals carrying only one copy of the mutation are, on average, more muscular than wild-type individuals (p = 7.43 × 10−6; Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild-type genotype in competitive racing events (Kendall's nonparametric measure, τ = 0.3619; p ≈ 0.00028). These results highlight the utility of performance-enhancing polymorphisms, marking the first time a mutation in MSTN has been quantitatively linked to increased athletic performance.

Subfields: Cell Biology, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/f89fa355dd8b393979f19fdbe782391a4c17022e

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In Cell Biology

1. B. K. Pedersen

In Genetics

1. H. Graser
2. D. Glass
3. Cedric Gondro
4. Julius H. J. Van der Werf
5. B. K. Pedersen
6. R. Frankham
7. D. H. Reed
8. Roosa Leimu

In Molecular Biology

1. M. C. Severinsen
2. K. Fearon
3. D. Glass
4. B. K. Pedersen
5. R. Frankham
6. D. Guttridge
7. J. Hawley
8. Vernon G. Coffey

Citations in the corpus

• Adaptation and Fitness in Animal Populations: Evolutionary and Breeding Perspectives on Genetic Resource Management (2009, background): “1982), snorter dwarfism in beef cattle selected for chunky conformation (Marlowe 1964), and myostatin induced doubling muscling in racing whippet dogs (Mosher et al. 2007).”
• Muscle–Organ Crosstalk: The Emerging Roles of Myokines (2020, background): “596 Endocrine Reviews, August 2020, 41(4):594–609 Severinsen and Pedersen Myokines in Muscle–Organ Crosstalk in myostatin knockout mice, cattle, sheep, and dogs (43-45) that demonstrate an increase in fiber cross-sectional area and in fiber number.”
• Cancer cachexia: mediators, signaling, and metabolic pathways. (2012, background): “Animals (Mosher et al., 2007) and humans (Schuelke et al.”