OMIA:002626-9913 : Haplotype with homozygous deficiency JBH17, CDC45-related 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: 2021
Mapping: Sasaki et al. (2021) "developed Japanese Black cattle haplotypes (JBHs) using SNP array data (4843 individuals) and identified deleterious recessive haplotypes using exome sequencing of 517 sires. We identified seven JBHs with homozygous deficiency. JBH_10 and JBH_17 were associated with the resuming of estrus after artificial insemination, indicating that these haplotypes carried deleterious mutations affecting embryonic survival.
Molecular basis: Sasaki et al. (2021): "A novel variant AC_000174.1:g.74743512G>T of CDC45 in JBH_17 was located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing."
Clinical features: Sasaki et al. (2021): "Mating between heterozygotes of JBH_17 indicated that homozygotes carrying the risk allele died around the blastocyst stage."
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|
|CDC45||cell division cycle 45||Bos taurus||17||NC_037344.1 (72717346..72732364)||CDC45||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|
|1528||Japanese Black, Japan (Cattle)||Haplotype with homozygous deficiency JBH17, CDC45-related||CDC45||splicing||Naturally occurring variant||UMD_3.1.1||17||g.74743512G>T||located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing||2021||33758295|
Cite this entry
|2021||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.|
- Created by Imke Tammen2 on 17 Feb 2023