ArticlePLoS genetics2019
Balancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigs.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 48 citations in OpenAlex.
- Effects of Partial Myostatin Loss of Function on Carcass Yield and Meat Quality in Pigs Differing in IGF2 Genotype.Animals : an open access journal from MDPI · 2026Article
- The influence of structural variants from 2445 pigs on gene expression and complex traits.Nature communications · 2026Article
- Targeting Myostatin for Sustainable Meat Production: Insights From Multiple Species.Animal genetics · 2026Review
- Pig Genome Editing for Agriculture: Achievements and Challenges.International journal of molecular sciences · 2025Review
- Molecular breeding of pigs in the genome editing era.Genetics, selection, evolution : GSE · 2025Review
- Genetic estimates and genome-wide association studies of antibody response in Tanzanian dairy cattle.Frontiers in genetics · 2025Article
- Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.PLoS genetics · 2024Article
- Sequenced-based GWAS for linear classification traits in Belgian Blue beef cattle reveals new coding variants in genes regulating body size in mammals.Genetics, selection, evolution : GSE · 2023Article
- Accurate haplotype construction and detection of selection signatures enabled by high quality pig genome sequences.Nature communications · 2023Article
- Efficient and Specific Generation ofGenes · 2023Article
- Meta-analysis of heritability estimates and genome-wide association for tick-borne haemoparasites in African cattle.Frontiers in genetics · 2023Article
- Reproduction and viscera organ characteristics of MSTN and FGF5 dual-gene knockout sheep.Frontiers in veterinary science · 2023Article
- Enhancing Animal Disease Resistance, Production Efficiency, and Welfare through Precise Genome Editing.International journal of molecular sciences · 2022Review
- Rare and population-specific functional variation across pig lines.Genetics, selection, evolution : GSE · 2022Article
- Long-term, multidomain analyses to identify the breed and allelic effects in MSTN-edited pigs to overcome lameness and sustainably improve nutritional meat production.Science China. Life sciences · 2022Article
- Viscera Characteristics ofFrontiers in genetics · 2022Article
- Myostatin suppresses adipogenic differentiation and lipid accumulation by activating crosstalk between ERK1/2 and PKA signaling pathways in porcine subcutaneous preadipocytes.Journal of animal science · 2021Article
- Evidence for and localization of proposed causative variants in cattle and pig genomes.Genetics, selection, evolution : GSE · 2021Review
- Integration of multi-omics approaches for functional characterization of muscle related selective sweep genes in Nanchukmacdon.Scientific reports · 2021Article
- The Association of an SNP in theAnimals : an open access journal from MDPI · 2021Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Balancing selection provides a plausible explanation for the maintenance of deleterious alleles at moderate frequency in livestock, including lethal recessives exhibiting heterozygous advantage in carriers. In the current study, a leg weakness syndrome causing mortality of piglets in a commercial line showed monogenic recessive inheritance, and a region on chromosome 15 associated with the syndrome was identified by homozygosity mapping. Whole genome resequencing of cases and controls identified a mutation causing a premature stop codon within exon 3 of the porcine Myostatin (MSTN) gene, similar to those causing a double-muscling phenotype observed in several mammalian species. The MSTN mutation was in Hardy-Weinberg equilibrium in the population at birth, but significantly distorted amongst animals still in the herd at 110 kg, due to an absence of homozygous mutant genotypes. In heterozygous form, the MSTN mutation was associated with a major increase in muscle depth and decrease in fat depth, suggesting that the deleterious allele was maintained at moderate frequency due to heterozygous advantage (allele frequency, q = 0.22). Knockout of the porcine MSTN by gene editing has previously been linked to problems of low piglet survival and lameness. This MSTN mutation is an example of putative balancing selection in livestock, providing a plausible explanation for the lack of disrupting MSTN mutations in pigs despite many generations of selection for lean growth.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.