OMIA:001991-9913 : Stillbirth 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 lethal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific description: Stillbirth occurs in many different forms, many of which are not inherited, some are multifactorial and others are single locus disorders.
Mapping: From a GWAS on 4.631 Nordic Red bulls, Sahana et al. (2016) identified a QTL for birth index on chromosome BTA23. Further research indicated a deletion of approximately 500kb in the region 12.28Mb and 12.81Mb on BTA23, acting as an autosomal recessive lethal for still births. As reported by Sahana et al. (2016), three genes (BTBD9, GLO1 and DNAH8) are known to be located in the deleted region, but it was not evident why lack of any of these genes would result in still births.
Mesbah-Uddin et al. (2017) "identified and confirmed the breakpoint of [the above] ∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)".
Fonseca et al. (2022) identified “candidate genomic regions associated with stillbirth using a haplotype library and a repeated measures model and …[prioretized] potential functional candidate genes associated with biological processes associated with stillbirth in dairy cattle. … 10,570 cows and 50,541 birth records were used to perform a haplotype-based GWAS. A total of 41 significantly associated pseudo-SNPs (haplotypes within haplotype blocks converted to a binary classification) were identified after Bonferroni adjustment for multiple tests. A total of 117 positional candidate genes were annotated within or close (in a 200-kb interval) to significant pseudo-SNPs (haplotype blocks). The guilt-by-association functional prioritization identified 31 potential functional candidate genes for reproductive performance …”
Have human generated variants been created, e.g. through genetic engineering and gene editing
Prevalence: Wu et al. (2020) reported the frequency of a tag haplotype for this lethal effect as 4.1% in 19,309 Nordic Red Dairy cattle.
Nordic Red (Cattle) (VBO_0016847).
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|
|BTBD9||BTB (POZ) domain containing 9||Bos taurus||23||NC_037350.1 (12472842..12059842)||BTBD9||Homologene, Ensembl , NCBI gene|
|DNAH8||dynein, axonemal, heavy chain 8||Bos taurus||23||NC_037350.1 (12560570..12888873)||DNAH8||Homologene, Ensembl , NCBI gene|
|GLO1||glyoxalase I||Bos taurus||23||NC_037350.1 (12519916..12494154)||GLO1||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|
|981||Nordic Red (Cattle)||Stillbirth||BTBD9||deletion, gross (>20)||Naturally occurring variant||23||"∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)"||2016||27091210|
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.
|2022||Fonseca, P.A.S., Schenkel, F.S., Cánovas, A. :|
|Genome-wide association study using haplotype libraries and repeated-measures model to identify candidate genomic regions for stillbirth in Holstein cattle. J Dairy Sci 105:1314-1326, 2022. Pubmed reference: 34998559. DOI: 10.3168/jds.2021-20936.|
|2020||Wu, X., Mesbah-Uddin, M., Guldbrandtsen, B., Lund, M.S., Sahana, G. :|
|Novel haplotypes responsible for prenatal death in Nordic Red and Danish Jersey cattle. J Dairy Sci 103:4570-4578, 2020. Pubmed reference: 32197842. DOI: 10.3168/jds.2019-17831.|
|2017||Mesbah-Uddin, M., Guldbrandtsen, B., Iso-Touru, T., Vilkki, J., De Koning, D.J., Boichard, D., Lund, M.S., Sahana, G. :|
|Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. DNA Res 25:49-59, 2017. Pubmed reference: 28985340. DOI: 10.1093/dnares/dsx037.|
|2016||Sahana, G., Iso-Touru, T., Wu, X., Nielsen, U.S., de Koning, D.J., Lund, M.S., Vilkki, J., Guldbrandtsen, B. :|
|A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle. Genet Sel Evol 48:35, 2016. Pubmed reference: 27091210. DOI: 10.1186/s12711-016-0215-z.|
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