ArticleBMC genomics2019
A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle.
Article in BMC genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 33 citations in OpenAlex.
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Identification of a Novel BiallelicThe world journal of men's health · 2026Article
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Biomarker-based human and animal sperm phenotyping: the good, the bad and the ugly†.Biology of reproduction · 2024Review
- CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.Journal of cellular and molecular medicine · 2024Article
- Adenylate kinase 9 is essential for sperm function and male fertility in mammals.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- CCDC189 affects sperm flagellum formation by interacting with CABCOCO1.National science review · 2023Article
- A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.Genetics, selection, evolution : GSE · 2022Article
- Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology.Reproductive sciences (Thousand Oaks, Calif.) · 2021Review
- Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population.BMC genomics · 2021Article
- Central Apparatus, the Molecular Kickstarter of Ciliary and Flagellar Nanomachines.International journal of molecular sciences · 2021Review
- Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.Genetics · 2021Article
- Sperm Functional Genome Associated With Bull Fertility.Frontiers in veterinary science · 2021Review
- Whole genome sequencing identifies allelic ratio distortion in sperm involving genes related to spermatogenesis in a swine model.DNA research : an international journal for rapid publication of reports on genes and genomes · 2020Article
- Splice2Deep: An ensemble of deep convolutional neural networks for improved splice site prediction in genomic DNA.Gene: X · 2020Article
- Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.PLoS genetics · 2020Article
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Authors and funding
21 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCattle 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.
resultsBoth 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.
conclusionsOur 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/ ).
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