ArticlePloS one2014
Deep intronic mutation and pseudo exon activation as a novel muscular hypertrophy modifier in cattle.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 33 citations in OpenAlex.
- Assessing the effect of bovine MSTN variants on pre-mRNA splicing.Animal genetics · 2026Article
- Myostatin inhibitors in sarcopenia treatment: A comprehensive review of mechanisms, efficacy and future directions.Molecular biology reports · 2025Review
- MSTN gene editing does not alter reproductive capacity but modifies gestational metabolism in Mongolian cattle.BMC veterinary research · 2025Article
- A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.Genetics, selection, evolution : GSE · 2025Article
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Comparative analysis of reproductive organs, hormones and blood metabolism of MSTN mutated and non-mutated cows during gestation.BMC veterinary research · 2025Article
- An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.BMC genomics · 2024Article
- Effects of Different Generations and Sex on Physiological, Biochemical, and Growth Parameters of Crossbred Beef Cattle byAnimals : an open access journal from MDPI · 2023Article
- Polymorphism of Genes and Their Impact on Beef Quality.Current issues in molecular biology · 2023Review
- Growth Traits and Sperm Proteomics Analyses of Myostatin Gene-Edited Chinese Yellow Cattle.Life (Basel, Switzerland) · 2022Article
- The Blonde d'Aquitaine T3811>G3811 mutation in the myostatin gene: association with growth, carcass, and muscle phenotypes in veal calves.Journal of animal science · 2021Article
- Molecular regulation of high muscle mass in developing Blonde d'Aquitaine cattle foetuses.Biology open · 2017Article
- Genetic disorders in beef cattle: a review.Genes & genomics · 2017Review
- Structural and Dynamic Characterization of the C313Y Mutation in Myostatin Dimeric Protein, Responsible for the "Double Muscle" Phenotype in Piedmontese Cattle.Frontiers in genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myostatin is essential for proper regulation of myogenesis, and inactivation of Myostatin results in muscle hypertrophy. Here, we identified an unexpected mutation in the myostatin gene which is almost fixed in Blonde d'Aquitaine cattle. In skeletal muscle, the mutant allele was highly expressed leading to an abnormal transcript consisting of a 41-bp inclusion and premature termination codons and to residual levels of a correctly spliced transcript. This expression pattern, caused by a leaky intronic mutation with regard to spliceosome activity and its apparent stability with regard to surveillance mechanisms, could contribute to the moderate muscle hypertrophy in this cattle breed. This finding is of importance for genetic counseling for meat quantity and quality in livestock production and possibly to manipulate myostatin pre-mRNA in human muscle diseases.
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