OMIA:002561-9913 : Infertility, ABHD16B-related in Bos taurus (taurine cattle)
Categories: Reproductive system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific description: Shan et al. (2020) reported "a Holstein sire named Tarantino who had been approved for artificial insemination that is based on normal semen characteristics (i.e., morphology, thermoresistance, motility, sperm concentration), but had no progeny after 412 first inseminations".
Mapping: Shen et al. (2020): "Using whole genome association analysis and next generation sequencing, an associated nonsense variant in the α/β-hydrolase domain-containing 16B gene (ABHD16B) on bovine chromosome 13 was identified".
Molecular basis: Shen et al. (2020) reported that the most likely cause of the complete infertility of the Holstein bull Tarantino was homozygosity for the variant rs468948776 in the ABHD16B gene, which "is predominantly expressed in Leydig cells of the testis".
Shan et al. (2022) were able to show that the "loss of function of ABHD16B leads to a capacitation disruption", which is sufficient to explain the infertility.
Prevalence: Shen et al. (2020) reported that "The frequency of the mutant [nonsense] allele in the German Holstein population was determined to be 0.0018 in 222,645 investigated cattle specimens. The mutant allele was traced back to Whirlhill Kingpin (born Feb. 13th, 1959) as potential founder."
Deutsche Holstein Schwarzbunt, Germany (Cattle) (VBO_0003152).
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|
|ABHD16B||abhydrolase domain containing 16B||Bos taurus||13||NC_037340.1 (53958761..53957077)||ABHD16B||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|
|1477||Deutsche Holstein Schwarzbunt, Germany (Cattle)||Infertility||ABHD16B||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||13||g.53957903G>A||c.652C>T||p.(Q218*)||ENSBTAT00000045249.4; ENSBTAP00000055253.1||rs468948776||rs468948776||2020||31963602|
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||Shan, S., Xu, F., Hirschfeld, M., Herrmann, C., Schulze, M., Sharifi, A.R., Hoelker, M., Brenig, B. :|
|α/β-Hydrolase D16B Truncation Results in Premature Sperm Capacitation in Cattle. Int J Mol Sci 23:, 2022. Pubmed reference: 35887122 . DOI: 10.3390/ijms23147777.|
|2020||Shan, S., Xu, F., Bleyer, M., Becker, S., Melbaum, T., Wemheuer, W., Hirschfeld, M., Wacker, C., Zhao, S., Schütz, E., Brenig, B. :|
|Association of α/β-Hydrolase D16B with Bovine Conception Rate and Sperm Plasma Membrane Lipid Composition. Int J Mol Sci 21:, 2020. Pubmed reference: 31963602 . DOI: 10.3390/ijms21020627.|
- Created by Frank Nicholas on 22 Aug 2022
- Changed by Frank Nicholas on 22 Aug 2022