OMIA:002167-9913 : Asthenospermia in Bos taurus
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 618318 (gene)
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: 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).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CCDC189||coiled-coil domain containing 189||Bos taurus||25||NC_037352.1 (26882897..26876841)||CCDC189||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|
|1032||Nordic Red (Cattle)||Asthenospermia||CCDC189||splicing||Naturally occurring variant||ARS-UCD1.2||25||g.26880841C>T||Touru et al. (2019): "a variant disrupting a canonical 5’ splice donor site (GCA_000003055.3:Chr25:g.27138357C>T) in CCDC189 (transcript - ID:ENSBTAT00000045037) encoding the coiled-coil domain containing protein 189."||2019||30975085|
|2019||Iso-Touru, T., Wurmser, C., Venhoranta, H., Hiltpold, M., Savolainen, T., Sironen, A., Fischer, K., Flisikowski, K., Fries, R., Vicente-Carrillo, A., Alvarez-Rodriguez, M., Nagy, S., Mutikainen, M., Peippo, J., Taponen, J., Sahana, G., Guldbrandtsen, B., Simonen, H., Rodriguez-Martinez, H., Andersson, M., Pausch, H. :|
|A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle. BMC Genomics 20:286, 2019. Pubmed reference: 30975085 . DOI: 10.1186/s12864-019-5628-y.|
- Created by Frank Nicholas on 26 Feb 2019
- Changed by Frank Nicholas on 15 Apr 2019