Categories: Reproductive system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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: Deutsche Holstein Schwarzbunt, Germany (Cattle) (VBO_0003152).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: