OMIA 001817-9913 : Perinatal weak calf syndrome in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

History: This disorder was first reported by Ogata et al. (1999).

Mapping: Hirano et al. (2013) conducted a genome scan on 30 affected and 30 normal offspring of a bull with an abnormally high incidence of this disorder, each offspring and the bull being genotyped with BovineSNP50 BeadChip, yielding 13,208 informative SNPs. Homozygosity mapping (supported by linkage mapping on the candidate chromosome) implicated a 4.04Mb region on chromosome BTA8, encompassing 29 annotated genes.

Molecular basis: Exome sequencing in the candidate region (see Mapping section) of 2 affected, one carrier and one homozygous normal animal enabled Hirano et al. (2013) to identify the causal mutation as a missense mutation (c.235G>C; p.Val79Leu) in the IARS gene which encodes isoleucyl-tRNA synthetase.

Hirano et al. (2016) reported that "the [above] homozygous IARS mutation not only causes calf death, but also embryonic or fetal death.

Clinical features: This disorder is characterised by "neonatal weakness with intrauterine growth retardation" (Hirano et al., 2013).

Breed: Japanese Black.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IARS isoleucyl-tRNA synthetase Bos taurus 8 NC_037335.1 (83918628..83837389) IARS Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Perinatal weak calf syndrome IARS missense UMD3.1 8 g.85341291G>C c.235G>C p.V79L 2013 23700453 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :
Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.
2017 Hirano, T., Nishimura, S., Hara, H., Sugimoto, Y., Hanzawa, K. :
Mapping of Calf Death in Japanese Black Cattle. Anim Biotechnol :1-6, 2017. Pubmed reference: 28103142. DOI: 10.1080/10495398.2016.1267643.
2016 Hirano, T., Matsuhashi, T., Takeda, K., Hara, H., Kobayashi, N., Kita, K., Sugimoto, Y., Hanzawa, K. :
IARS mutation causes prenatal death in Japanese Black cattle. Anim Sci J 87:1178-81, 2016. Pubmed reference: 27229878. DOI: 10.1111/asj.12639.
2013 Hirano, T., Kobayashi, N., Matsuhashi, T., Watanabe, D., Watanabe, T., Takasuga, A., Sugimoto, M., Sugimoto, Y. :
Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome. PLoS One 8:e64036, 2013. Pubmed reference: 23700453. DOI: 10.1371/journal.pone.0064036.
2008 Takasu, M., Shirota, K., Ohba, Y., Nishii, N., Murase, T., Miyazawa, K., Kitagawa, H. :
Thymic hypoplasia in Japanese black calves with stillbirth/perinatal weak calf syndrome. J Vet Med Sci 70:1173-7, 2008. Pubmed reference: 19057134.
1999 Ogata, Y., Nakao, T., Takahashi, K., Abe, H., Misawa, T., Urushiyama, Y., Sakai, J. :
Intrauterine growth retardation as a cause of perinatal mortality in Japanese black beef calves. Zentralbl Veterinarmed A 46:327-34, 1999. Pubmed reference: 10481611.

Edit History


  • Created by Frank Nicholas on 05 Jun 2013
  • Changed by Frank Nicholas on 05 Jun 2013
  • Changed by Frank Nicholas on 27 Aug 2017