Structural variants and short tandem repeats impact gene expression and splicing in bovine testis tissue

Meenu Bhati, Xena Marie Mapel, Audald Lloret-Villas, Hubert Pausch

Research output: Working paperPreprint

Abstract / Description of output

Structural variants (SVs) and short tandem repeats (STRs) are significant sources of genetic variation. However, the impacts of these variants on gene expression and splicing have not been investigated in cattle. Here, we genotyped and characterized 19,408 SVs and 374,821 STRs in 183 bovine genomes and investigated their impact on molecular phenotypes derived from testis transcriptomes. We found that 71% short tandem repeats (STRs) were multiallelic. The vast majority (95%) of STRs and SVs were in intergenic and intronic regions. Additionally, 37% of SVs and 40% of STRs were in high LD (R2>0.8) with surrounding SNPs/Indels. Both SVs and STRs were more than two-fold enriched among expression and splicing QTL (e/sQTL) relative to SNPs/Indels and were often associated with differential expression and splicing of multiple genes. Deletions and duplications had larger impacts on splicing and expression than any other type of structural variant. Exonic duplications predominantly increased gene expression either through alternative splicing or other mechanisms, whereas expression- and splicing-associated STRs primarily resided in intronic regions and exhibited bimodal effects on the molecular phenotypes investigated. Most e/sQTL resided within 100 kb of the affected genes or splicing junctions. We pinpoint candidate causal STRs and SVs associated with the expression of SLC13A4 and TTC7B, and alternative splicing of a lncRNA and CAPP1. Our results provide a comprehensive catalogue of polymorphic STRs and SVs in the bovine genome and show that they contribute substantially to gene expression and splicing variation in cattle.
Original languageEnglish
PublisherbioRxiv, at Cold Spring Harbor Laboratory
Publication statusPublished - 7 Jun 2023


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