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OMIA 001991-9913 : Stillbirth in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611237 (gene) , 603337 (gene) , 138750 (gene)

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 …”

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.

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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
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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.
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.

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
  • Changed by Frank Nicholas on 23 Mar 2020
  • Changed by Imke Tammen2 on 04 Dec 2020
  • Changed by Imke Tammen2 on 30 Jan 2022