OMIA 001991-9913 : Stillbirth in Bos taurus |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive Lethal
Considered a defect:
yes
Key variant known:
no
Year key variant first reported:
2016
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)".
Breed: Nordic Red. Associated genes:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BTBD9 | BTB (POZ) domain containing 9 | Bos taurus | 23 | NC_037350.1 (12472847..12061843) | BTBD9 | Homologene, Ensembl, NCBI gene |
| DNAH8 | dynein, axonemal, heavy chain 8 | Bos taurus | 23 | NC_037350.1 (12560530..12888873) | DNAH8 | Homologene, Ensembl, NCBI gene |
| GLO1 | glyoxalase I | Bos taurus | 23 | NC_037350.1 (12519916..12494154) | GLO1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nordic Red | Stillbirth | BTBD9 | deletion, gross (>20) | UMD3.1 | 23 | "∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)" | 2016 | 27091210 |
References
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.
| 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 :, 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. |
Edit History
- Created by Frank Nicholas on 22 Apr 2016
- Changed by Frank Nicholas on 22 Apr 2016
- Changed by Frank Nicholas on 05 Apr 2018