Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618318 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: Also known as Asthenozoospermia

Inheritance: Iso-Touru et al. (2019): "The [two affected young Nordic Red] bulls were related through a common ancestor on both their paternal and maternal ancestry. Thus, a recessive mode of inheritance of asthenospermia was suspected. "

Mapping: Iso-Touru et al. (2019): "Both bulls were genotyped at 54,001 SNPs using the Illumina BovineSNP50 Bead chip. A scan for autozygosity revealed that they were identical by decent for a 2.98 Mb segment located on bovine chromosome 25. This haplotype was not found in the homozygous state in 8,557 fertile bulls although five homozygous haplotype carriers were expected (P=0.018)."

Molecular basis: Iso-Touru et al. (2019): "Whole genome-sequencing uncovered that both asthenospermic bulls were homozygous for a mutation that disrupts a canonical 5' splice donor site of CCDC189 encoding the coiled-coil domain containing protein 189. Transcription analysis showed that the derived allele activates a cryptic splice site resulting in a frameshift and premature termination of translation. The mutated CCDC189 protein is truncated by more than 40%, thus lacking the flagellar C1a complex subunit C1a-32 that is supposed to modulate the physiological movement of the sperm flagella."

Prevalence: Iso-Touru et al. (2019): "The mutant allele occurs at a frequency of 2.5% in Nordic Red cattle."

Breed: Nordic Red (Cattle) (VBO_0016847).
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: