OMIA 002561-9913 : Infertility, ABHD16B-related in Bos taurus
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." Breed: German Holstein. Associated gene:
|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|
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|
|1477||German Holstein||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|
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