ArticlePLoS genetics2015
Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle.
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 16 papers.
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16 citing papers in PubMed, 28 citations in OpenAlex.
- Histopathology of skeletal dysplasia in a Japanese Black calf with marked epiphyseal enlargement.The Journal of veterinary medical science · 2026Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Unlocking the Transcriptional Control ofInternational journal of molecular sciences · 2024Article
- Genome-Wide Association Study Reveals Novel Loci Associated with Body Conformation Traits in Qinchuan Cattle.Animals : an open access journal from MDPI · 2023Article
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- Comprehensive analysis of 124 transcriptomes from 31 tissues in developing, juvenile, and adult Japanese Black cattle.DNA research : an international journal for rapid publication of reports on genes and genomes · 2022Article
- Computational Analysis of the Immune Infiltration Pattern and Candidate Diagnostic Biomarkers in Lumbar Disc Herniation.Frontiers in molecular neuroscience · 2022Article
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- Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle.Scientific reports · 2021Article
- Genotyping and Whole-Genome Resequencing of Welsh Sheep Breeds Reveal Candidate Genes and Variants for Adaptation to Local Environment and Socioeconomic Traits.Frontiers in genetics · 2021Article
- Identification of Major Loci and Candidate Genes for Meat Production-Related Traits in Broilers.Frontiers in genetics · 2021Article
- Genomic analyses suggest adaptive differentiation of northern European native cattle breeds.Evolutionary applications · 2019Article
- Article
- Critical Roles of Dual-Specificity Phosphatases in Neuronal Proteostasis and Neurological Diseases.International journal of molecular sciences · 2017Review
- Loss of maternal ANNEXIN A10 via a 34-kb deleted-type copy number variation is associated with embryonic mortality in Japanese Black cattle.BMC genomics · 2016Article
- Presence of a Deletion Mutation of Myostatin (MSTN) Gene Associated With Double-Muscling Phenotype in Japanese Black Cattle Population.Animal science journal = Nihon chikusan GakkaihoArticle
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Authors and funding
21 authors at 13 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia.
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