OMIA 002561-9913 : Infertility, ABHD16B-related in Bos taurus

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."

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

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
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

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 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.

Edit History


  • Created by Frank Nicholas on 22 Aug 2022
  • Changed by Frank Nicholas on 22 Aug 2022