OMIA:002083-9913 : Abortion (embryonic lethality), ANXA10-related in Bos taurus (taurine cattle)
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 608008 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Inheritance: In this entry, embryonic mortality is a maternal trait, i.e. the mortaility is a consequence of the genotype of the dam, rather than the genotype of the embryo. Sasaki et al. (2016) "genotyped 2693 cows that were randomly selected from 79,617 reproductive females. The heterozygote occurred in 141 of 2693 animals, but the homozygous for the risk-allele was not observed in the population. Results showed that the CNVR_322 heterozygotes (+/−) were significantly associated with embryonic mortality at 30–60 D after AI, compared to non-CNVR_322 (+/+) animals".
Molecular basis: A genome-wide CNV (copy number variation) association study of 791 Japanese Black cattle enabled Sasaki et al. (2016) to identify a "34-kb deleted-type" CNV region, identified as CNVR_322, "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10."
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|
|ANXA10||annexin A10||Bos taurus||8||NC_037335.1 (495871..571472)||ANXA10||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|
|927||Japanese Black, Japan (Cattle)||Abortion (embryonic lethality), ANXA10-related||ANXA10||repeat variation||Naturally occurring variant||8||"a "34-kb deleted-type" CNV "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10."||2016||27881083|
Cite this entry
|2016||Sasaki, S., Ibi, T., Akiyama, T., Fukushima, M., Sugimoto, Y. :|
|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 17:968, 2016. Pubmed reference: 27881083 . DOI: 10.1186/s12864-016-3312-z.|
- Created by Frank Nicholas on 01 Dec 2016
- Changed by Frank Nicholas on 01 Dec 2016