ArticleBMC genomics2021
Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population.
Article in BMC genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 32 citations in OpenAlex.
- Genomic partitioning and functional dissection of inbreeding depression for stature in Brown Swiss cattle.Genetics, selection, evolution : GSE · 2026Article
- 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
- Identification of Candidate Genes Associated with Meat Production of Aberdeen Angus Cattle.Animals : an open access journal from MDPI · 2025Article
- Genomic prediction of male fertility in Brown Swiss cattle.JDS communications · 2024Article
- Molecular quantitative trait loci in reproductive tissues impact male fertility in cattle.Nature communications · 2024Article
- QTLs and Candidate Genes Associated with Semen Traits in Merino Sheep.Animals : an open access journal from MDPI · 2023Article
- Sequence level genome-wide associations for bull production and fertility traits in tropically adapted bulls.BMC genomics · 2023Article
- Identification of runs of homozygosity associated with male fertility in Italian Brown Swiss cattle.Frontiers in genetics · 2023Article
- Multi-breed genomic predictions and functional variants for fertility of tropical bulls.PloS one · 2023Article
- Deciphering the genetic basis of male fertility in Italian Brown Swiss dairy cattle.Scientific reports · 2022Article
- Article
- A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.Genetics, selection, evolution : GSE · 2022Article
- Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle.JDS communications · 2022Article
- Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci.Genetics, selection, evolution : GSE · 2022Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCattle are ideally suited to investigate the genetics of male fertility. Semen from individual bulls is used for thousands of artificial inseminations for which the fertilization success is monitored. Results from the breeding soundness examination and repeated observations of semen quality complement the fertility evaluation for each bull.
resultsIn a cohort of 3881 Brown Swiss bulls that had genotypes at 683,609 SNPs, we reveal four novel recessive QTL for male fertility on BTA1, 18, 25, and 26 using haplotype-based association testing. A QTL for bull fertility on BTA1 is also associated with sperm head shape anomalies. All other QTL are not associated with any of the semen quality traits investigated. We perform complementary fine-mapping approaches using publicly available transcriptomes as well as whole-genome sequencing data of 125 Brown Swiss bulls to reveal candidate causal variants. We show that missense or nonsense variants in SPATA16, VWA3A, ENSBTAG00000006717 and ENSBTAG00000019919 are in linkage disequilibrium with the QTL. Using whole-genome sequence data, we detect strong association (P = 4.83 × 10
conclusionOur findings in a dairy cattle population provide evidence that recessive variants may contribute substantially to quantitative variation in male fertility in mammals. Detecting causal variants that underpin variation in male fertility remains difficult because the most strongly associated variants reside in poorly annotated non-coding regions.
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