A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

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dc.contributor.author Iso-Touru, Terhi
dc.contributor.author Wurmser, Christine
dc.contributor.author Venhoranta, Heli
dc.contributor.author Hiltpold, Maya
dc.contributor.author Savolainen, Tujia
dc.contributor.author Sironen, Anu
dc.contributor.author Fischer, Konrad
dc.contributor.author Flisikowski, Krzysztof
dc.contributor.author Fries, Ruedi
dc.contributor.author Vicente-Carrillo, Alejandro
dc.contributor.author Alvarez-Rodriguez, Manuel
dc.contributor.author Nagy, Szabolcs
dc.contributor.author Mutikainen, Mervi
dc.contributor.author Peippo, Jaana
dc.contributor.author Taponen, Juhani
dc.contributor.author Sahana, Goutam
dc.contributor.author Guldbrandtsen, Bernt
dc.contributor.author Simonen, Henri
dc.contributor.author Rodriguez-Martinez, Heriberto
dc.contributor.author Andersson, Magnus
dc.contributor.author Pausch, Hubert
dc.date.accessioned 2020-02-05T09:18:01Z
dc.date.available 2020-02-05T09:18:01Z
dc.date.issued 2019-04-11
dc.identifier.citation 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 2019 , ' A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle ' , BMC Genomics , vol. 20 , 286 . https://doi.org/10.1186/s12864-019-5628-y
dc.identifier.other PURE: 131469435
dc.identifier.other PURE UUID: 9a63b349-4e8f-453f-bc6c-8568b72e5aeb
dc.identifier.other WOS: 000464835700007
dc.identifier.uri http://hdl.handle.net/10138/311065
dc.description.abstract 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 2.98Mb 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/). en
dc.format.extent 13
dc.language.iso eng
dc.relation.ispartof BMC Genomics
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject Male infertility
dc.subject Sterility
dc.subject Immotile sperm
dc.subject Cattle
dc.subject CCDC189
dc.subject DYNEIN REGULATORY COMPLEX
dc.subject IN-VITRO FERTILIZATION
dc.subject SPERM MOTILITY
dc.subject MALE-INFERTILITY
dc.subject NONSENSE MUTATION
dc.subject PARAMETERS
dc.subject CILIARY
dc.subject DEFICIENCY
dc.subject GENERATION
dc.subject MORPHOLOGY
dc.subject 413 Veterinary science
dc.title A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle en
dc.type Article
dc.contributor.organization Departments of Faculty of Veterinary Medicine
dc.contributor.organization Helsinki One Health (HOH)
dc.contributor.organization Production Animal Medicine
dc.contributor.organization Animal Reproduction Science
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1186/s12864-019-5628-y
dc.relation.issn 1471-2164
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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