OMIA 002083-9913 : Abortion (embryonic lethality), ANXA10-related in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely 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."

Breed: Japanese Black.

Associated gene:

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

Variants

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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 Abortion (embryonic lethality), ANXA10-related ANXA10 repeat variation "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

Reference


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.

Edit History


  • Created by Frank Nicholas on 01 Dec 2016
  • Changed by Frank Nicholas on 01 Dec 2016