ArticlePLoS genetics2015
A Point Mutation in Suppressor of Cytokine Signalling 2 (Socs2) Increases the Susceptibility to Inflammation of the Mammary Gland while Associated with Higher Body Weight and Size and Higher Milk Production in a Sheep Model.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 123 citations in OpenAlex.
- Management of genetic defects in breeding programs of species with high prolificacy.Journal of animal science · 2026Article
- Whole-genome resequencing of the Kazakh coarse-wool fat-tailed sheep identifies functional variants in disease-associated genes.Frontiers in veterinary science · 2026Article
- From markers to mechanisms: a comprehensive review of major genes and quantitative trait loci shaping the modern sheep (Frontiers in genetics · 2026Review
- Association of single nucleotide polymorphisms in the entire coding region of the SOCS2 gene with milk traits in Sahiwal cattle.Tropical animal health and production · 2025Article
- Cytosine base editor-mediated SOCS2 knockout promotes C2C12 cell differentiation via the PI3K/AKT/mTOR signaling pathway.Functional & integrative genomics · 2025Article
- The Evolution and Role of Molecular Tools in Measuring Diversity and Genomic Selection in Livestock Populations (Traditional and Up-to-Date Insights): A Comprehensive Exploration.Veterinary sciences · 2024Review
- The investigation of SNP in SOCS2 gene and its effect on milk yield, fat, protein, and somatic cell count in Awassi ewes.Tropical animal health and production · 2024Article
- Genetic diversity of United States Rambouillet, Katahdin and Dorper sheep.Genetics, selection, evolution : GSE · 2024Article
- Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability.Genetics, selection, evolution : GSE · 2024Article
- A loss of function mutation in SOCS2 results in increased inflammatory response of macrophages to TLR ligands andFrontiers in immunology · 2024Article
- Using QTL to Identify Genes and Pathways Underlying the Regulation and Production of Milk Components in Cattle.Animals : an open access journal from MDPI · 2023Review
- Candidate genes for mastitis resistance in dairy cattle: a data integration approach.Journal of animal science and biotechnology · 2023Article
- A large database linking the rumen bacterial composition and milk traits in Lacaune sheep.Scientific data · 2023Article
- Genetic diversity, population structure, and selective signature of sheep in the northeastern Tarim Basin.Frontiers in genetics · 2023Article
- A genome-wide association study reveals novel SNP markers associated with resilience traits in two Mediterranean dairy sheep breeds.Frontiers in genetics · 2023Article
- SOCS2 regulation of growth hormone signaling requires a canonical interaction with phosphotyrosine.Bioscience reports · 2022Article
- Host genetic control on rumen microbiota and its impact on dairy traits in sheep.Genetics, selection, evolution : GSE · 2022Article
- The Crazy Biology.Genes · 2022Article
- Genetics of the phenotypic evolution in sheep: a molecular look at diversity-driving genes.Genetics, selection, evolution : GSE · 2022Review
- Enhancing Animal Disease Resistance, Production Efficiency, and Welfare through Precise Genome Editing.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mastitis is an infectious disease mainly caused by bacteria invading the mammary gland. Genetic control of susceptibility to mastitis has been widely evidenced in dairy ruminants, but the genetic basis and underlying mechanisms are still largely unknown. We describe the discovery, fine mapping and functional characterization of a genetic variant associated with elevated milk leukocytes count, or SCC, as a proxy for mastitis. After implementing genome-wide association studies, we identified a major QTL associated with SCC on ovine chromosome 3. Fine mapping of the region, using full sequencing with 12X coverage in three animals, provided one strong candidate SNP that mapped to the coding sequence of a highly conserved gene, suppressor of cytokine signalling 2 (Socs2). The frequency of the SNP associated with increased SCC was 21.7% and the Socs2 genotype explained 12% of the variance of the trait. The point mutation induces the p.R96C substitution in the SH2 functional domain of SOCS2 i.e. the binding site of the protein to various ligands, as well-established for the growth hormone receptor GHR. Using surface plasmon resonance we showed that the p.R96C point mutation completely abrogates SOCS2 binding affinity for the phosphopeptide of GHR. Additionally, the size, weight and milk production in p.R96C homozygote sheep, were significantly increased by 24%, 18%, and 4.4%, respectively, when compared to wild type sheep, supporting the view that the point mutation causes a loss of SOCS2 functional activity. Altogether these results provide strong evidence for a causal mutation controlling SCC in sheep and highlight the major role of SOCS2 as a tradeoff between the host's inflammatory response to mammary infections, and body growth and milk production, which are all mediated by the JAK/STAT signaling pathway.
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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.