ArticlePLoS genetics2020
Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 58 citations in OpenAlex.
- Genomic partitioning and functional dissection of inbreeding depression for stature in Brown Swiss cattle.Genetics, selection, evolution : GSE · 2026Article
- Current status and advances in bovine semen production technologies for artificial insemination in Japan.The Journal of reproduction and development · 2026Review
- Across-breed analyses of genome-wide association studies for stature and mammary gland morphology in cattle reveal pleiotropic effects of the Friesian POLLED haplotype.Genetics, selection, evolution : GSE · 2026Article
- Probabilities of two alleles being identity by state at unobserved loci predicted by observed loci in cattle populations.Scientific reports · 2026Article
- The effect of solar radiation on spermatozoa abnormality and motility in bulls.Journal of animal science and technology · 2026Article
- Review
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Genomic prediction of male fertility in Brown Swiss cattle.JDS communications · 2024Article
- Runs of homozygosity analysis and genomic inbreeding estimation in Sumba Ongole cattle (Veterinary world · 2024Article
- Principal component analysis of phenotypic and breeding value data for semen traits in Egyptian buffalo bulls.Tropical animal health and production · 2024Article
- Molecular quantitative trait loci in reproductive tissues impact male fertility in cattle.Nature communications · 2024Article
- Determinant genetic markers of semen quality in livestock.Frontiers in endocrinology · 2024Review
- 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
- Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing.Genome biology · 2023Article
- Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle.Frontiers in genetics · 2023Article
- Genomic dissection of repeatability considering additive and nonadditive genetic effects for semen production traits in beef and dairy bulls.Journal of animal science · 2022Article
- Deciphering the genetic basis of male fertility in Italian Brown Swiss dairy cattle.Scientific reports · 2022Article
- Runs of Homozygosity and Quantitative Trait Locus/Association for Semen Parameters in Selected Chinese and South African Beef Cattle.Animals : an open access journal from MDPI · 2022Article
- Genetic diversity and population structure of six autochthonous pig breeds from Croatia, Serbia, and Slovenia.Genetics, selection, evolution : GSE · 2022Article
- Candidate Genes in Bull Semen Production Traits: An Information Approach Review.Veterinary sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cattle are ideally suited to investigate the genetics of male reproduction, because semen quality and fertility are recorded for all ejaculates of artificial insemination bulls. We analysed 26,090 ejaculates of 794 Brown Swiss bulls to assess ejaculate volume, sperm concentration, sperm motility, sperm head and tail anomalies and insemination success. The heritability of the six semen traits was between 0 and 0.26. Genome-wide association testing on 607,511 SNPs revealed a QTL on bovine chromosome 6 that was associated with sperm motility (P = 2.5 x 10-27), head (P = 2.0 x 10-44) and tail anomalies (P = 7.2 x 10-49) and insemination success (P = 9.9 x 10-13). The QTL harbors a recessive allele that compromises semen quality and male fertility. We replicated the effect of the QTL on fertility (P = 7.1 x 10-32) in an independent cohort of 2481 Brown Swiss bulls. The analysis of whole-genome sequencing data revealed that a synonymous variant (BTA6:58373887C>T, rs474302732) in WDR19 encoding WD repeat-containing protein 19 was in linkage disequilibrium with the fertility-associated haplotype. WD repeat-containing protein 19 is a constituent of the intraflagellar transport complex that is essential for the physiological function of motile cilia and flagella. Bioinformatic and transcription analyses revealed that the BTA6:58373887 T-allele activates a cryptic exonic splice site that eliminates three evolutionarily conserved amino acids from WDR19. Western blot analysis demonstrated that the BTA6:58373887 T-allele decreases protein expression. We make the remarkable observation that, in spite of negative effects on semen quality and bull fertility, the BTA6:58373887 T-allele has a frequency of 24% in the Brown Swiss population. Our findings are the first to uncover a variant that is associated with quantitative variation in semen quality and male fertility in cattle.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.