Molecular quantitative trait loci in reproductive tissues impact male fertility in cattle
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Date
2024-01-22
Publication Type
Journal Article
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yes
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Abstract
Breeding bulls are well suited to investigate inherited variation in male fertility because they are genotyped and their reproductive success is monitored through semen analyses and thousands of artificial inseminations. However, functional data from relevant tissues are lacking in cattle, which prevents fine-mapping fertility-associated genomic regions. Here, we characterize gene expression and splicing variation in testis, epididymis, and vas deferens transcriptomes of 118 mature bulls and conduct association tests between 414,667 molecular phenotypes and 21,501,032 genome-wide variants to identify 41,156 regulatory loci. We show broad consensus in tissue-specific and tissue-enriched gene expression between the three bovine tissues and their human and murine counterparts. Expression- and splicing-mediating variants are more than three times as frequent in testis than epididymis and vas deferens, highlighting the transcriptional complexity of testis. Finally, we identify genes (WDR19, SPATA16, KCTD19, ZDHHC1) and molecular phenotypes that are associated with quantitative variation in male fertility through transcriptome-wide association and colocalization analyses.
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published
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Journal / series
Nature Communications
Volume
15
Pages / Article No.
674
Publisher
Nature
Event
Edition / version
Methods
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Date collected
Date created
Subject
Organisational unit
09575 - Pausch, Hubert / Pausch, Hubert
Notes
Funding
ETH-17 20-2 - FERTIBULL – Unravelling the non-coding genetic architecture of male fertility in a large mammal (ETHZ)
185229 - Compiling a population-specific haplotype reference panel to facilitate the fine-mapping of pleiotropic QTL in cattle (SNF)
185229 - Compiling a population-specific haplotype reference panel to facilitate the fine-mapping of pleiotropic QTL in cattle (SNF)