OMIA:001817-9913 : Perinatal weak calf syndrome in Bos taurus (taurine cattle)
Categories: Mortality / aging (incl. embryonic lethal)
Links to MONDO diseases: No links.
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: This disorder is characterised by "neonatal weakness with intrauterine growth retardation" (Hirano et al., 2013).
Islam et al. (2021): "There were no statistically significant differences between the carrier and wild-type cows with respect to either [metabolic profile test] MPT results or reproductive performance, indicating that the carrier cows have necessary IARS activity to maintain minimal health and reproductive potential."
Prevalence: Islam et al. (2021): "In 2009 and 2018, DNA samples were collected from 130 and 462 clinically healthy JB cows, respectively, in Kagoshima prefecture. ... Genotyping [for the c.235G>C mutation] revealed that the carrier rate was 6.9% in 2009 and 1.5% in 2018".
Control: Ikeda et al. (2017) reported the repair of the IARS likely causal variant in day-34 foetuses, following CRISPR/Cas9-assisted editing of "fetal fibroblast (BFF) cells isolated from a homozygous mutant calf".
Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IARS||isoleucyl-tRNA synthetase||Bos taurus||8||NC_037335.1 (83918584..83837391)||IARS||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|204||Japanese Black, Japan (Cattle)||Perinatal weak calf syndrome||IARS||missense||Naturally occurring variant||ARS-UCD1.2||8||g.83909754C>G||c.235G>C||p.(V79L)||2013||23700453||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
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.
|2023||Kalotay, E., Klugmann, M., Housley, G.D., Fröhlich, D. :|
|Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models. Front Neurosci 17:1182874, 2023. Pubmed reference: 37274208. DOI: 10.3389/fnins.2023.1182874.|
|2021||Islam, M.S., Shinya, U., Takagi, M., Akahoshi, T., Yabuki, A., Pervin, S., Rakib, T.M., Rahman, M.M., Tacharina, M.R., Yamato, O. :|
|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. J Vet Med Sci 83:254-259, 2021. Pubmed reference: 33298632. DOI: 10.1292/jvms.20-0356.|
|Sasaki, S., Watanabe, T., Ibi, T., Hasegawa, K., Sakamoto, Y., Moriwaki, S., Kurogi, K., Ogino, A., Yasumori, T., Wakaguri, H., Muraki, E., Miki, Y., Yoshida, Y., Inoue, Y., Tabuchi, I., Iwao, K., Arishima, T., Kawashima, K., Watanabe, M., Sugano, S., Sugimoto, Y., Suzuki, Y. :|
|Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. Sci Rep 11:6687, 2021. Pubmed reference: 33758295. DOI: 10.1038/s41598-021-86225-y.|
|Singh, P., Ali, S.A. :|
|Impact of CRISPR-Cas9-based genome engineering in farm animals. Vet Sci 8:122, 2021. Pubmed reference: 34209174. DOI: 10.3390/vetsci8070122.|
|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.|
|Ikeda, M., Matsuyama, S., Akagi, S., Ohkoshi, K., Nakamura, S., Minabe, S., Kimura, K., Hosoe, M. :|
|Correction of a disease mutation using CRISPR/Cas9-assisted genome editing in Japanese Black cattle. Sci Rep 7:17827, 2017. Pubmed reference: 29259316. DOI: 10.1038/s41598-017-17968-w.|
|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.|
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