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A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle
Nat Resources Inst Finland Luke, Finland.
Tech Univ Munich, Germany.
Univ Helsinki, Finland.
Swiss Fed Inst Technol, Switzerland.
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2019 (English)In: BMC Genomics, ISSN 1471-2164, E-ISSN 1471-2164, Vol. 20, no 1, article id 286Article in journal (Refereed) Published
Abstract [en]

Background

Cattle populations are highly amenable to the genetic mapping of male reproductive traits because longitudinal data on ejaculate quality and dense microarray-derived genotypes are available for thousands of artificial insemination bulls. Two young Nordic Red bulls delivered sperm with low progressive motility (i.e., asthenospermia) during a semen collection period of more than four months. The bulls were related through a common ancestor on both their paternal and maternal ancestry. Thus, a recessive mode of inheritance of asthenospermia was suspected.

Results

Both bulls were genotyped at 54,001 SNPs using the Illumina BovineSNP50 Bead chip. A scan for autozygosity revealed that they were identical by descent for a 2.98 Mb segment located on bovine chromosome 25. This haplotype was not found in the homozygous state in 8557 fertile bulls although five homozygous haplotype carriers were expected (P = 0.018). 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. The mutant allele occurs at a frequency of 2.5% in Nordic Red cattle.

Conclusions

Our study in cattle uncovered that CCDC189 is required for physiological movement of sperm flagella thus enabling active progression of spermatozoa and fertilization. A direct gene test may be implemented to monitor the asthenospermia-associated allele and prevent the birth of homozygous bulls that are infertile. Our results have been integrated in the Online Mendelian Inheritance in Animals (OMIA) database (https://omia.org/OMIA002167/9913/).

Place, publisher, year, edition, pages
BioMed Central, 2019. Vol. 20, no 1, article id 286
Keywords [en]
Male infertility; Sterility; Immotile sperm; Cattle; CCDC189
National Category
Genetics
Identifiers
URN: urn:nbn:se:liu:diva-157218DOI: 10.1186/s12864-019-5628-yISI: 000464835700007PubMedID: 30975085Scopus ID: 2-s2.0-85064220235OAI: oai:DiVA.org:liu-157218DiVA, id: diva2:1324382
Available from: 2019-06-13 Created: 2019-06-13 Last updated: 2019-10-31Bibliographically approved

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Vicente Carrillo, AlejandroAlvarez-Rodriguez, ManuelRodriguez-Martinez, Heriberto
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Department of Clinical and Experimental MedicineFaculty of Medicine and Health SciencesDivision of Children's and Women's health
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