OMIA 002167-9913 : Asthenospermia in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606766

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.

Associated gene:

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

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Nordic Red Asthenospermia CCDC189 splicing UMD3.1 25 27138357C>T Touru et al. (2019): "ARS-UCD1.2-assembly, the variant is located on Chr25:26880841C>T"; "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

Reference


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.

Edit History


  • Created by Frank Nicholas on 26 Feb 2019
  • Changed by Frank Nicholas on 15 Apr 2019