ArticlePloS one2013
Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 51 citations in OpenAlex.
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- Haplotypes affecting stillbirth and fertility in Icelandic Dairy Cattle.Journal of applied genetics · 2025Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Physiological alterations and predictors of death in neonatal calves with weak calf syndrome.The Veterinary record · 2025Article
- Atypical Presentation ofJIMD reports · 2025Article
- Review
- Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.International journal of molecular sciences · 2023Article
- 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
- Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle.Scientific reports · 2021Article
- Carrier rate of the c.235G>C mutation in the bovine isoleucyl-tRNA synthetase (IARS) gene of Japanese Black cows at Kagoshima prefecture, Japan, and analysis of the metabolic profiling and reproductive performance of heterozygous cows.The Journal of veterinary medical science · 2021Article
- A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle.BMC genomics · 2021Article
- Screening genetic diseases prevalence in Braunvieh cattle.Tropical animal health and production · 2019Article
- Correction of a Disease Mutation using CRISPR/Cas9-assisted Genome Editing in Japanese Black Cattle.Scientific reports · 2017Article
- Maternal variant in the upstream of FOXP3 gene on the X chromosome is associated with recurrent infertility in Japanese Black cattle.BMC genetics · 2017Article
- A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle.BMC genomics · 2016Article
- Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.American journal of human genetics · 2016Article
- A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle.BMC genomics · 2016Article
- A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.Genetics, selection, evolution : GSE · 2016Article
- Genomic structure and marker-derived gene networks for growth and meat quality traits of Brazilian Nelore beef cattle.BMC genomics · 2016Article
- Comparative analysis of SNP candidates in disparate milk yielding river buffaloes using targeted sequencing.PeerJ · 2016Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We identified an IARS (isoleucyl-tRNA synthetase) c.235G>C (p.Val79Leu) substitution as the causative mutation for neonatal weakness with intrauterine growth retardation (perinatal weak calf syndrome). In Japanese Black cattle, the syndrome was frequently found in calves sired by Bull A. Hence, we employed homozygosity mapping and linkage analysis. In order to identify the perinatal weak calf syndrome locus in a 4.04-Mb region of BTA 8, we analysed a paternal half-sibling family with a BovineSNP50 BeadChip and microsatellites. In this critical region, we performed exome sequencing to identify a causative mutation. Three variants were detected as possible candidates for causative mutations that were predicted to disrupt the protein function, including a G>C (p.Val79Leu) mutation in IARS c.235. The IARS c.235G>C mutation was not a homozygous risk allele in the 36 healthy offspring of Bull A. Moreover, the IARS Val79 residue and its flanking regions were evolutionarily and highly conserved. The IARS mutant (Leu79) had decreased aminoacylation activity. Additionally, the homozygous mutation was not found in any of 1526 healthy cattle. Therefore, we concluded that the IARS c.235G>C mutation was the cause of hereditary perinatal weak calf syndrome.
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