Fig. 1

A 1-bp deletion is a candidate causal variant for a sperm morphology defect in Brown Swiss bulls. a Pedigree of two bulls with a defect of sperm heads and tails. The pedigree only contains suspected carriers of the 1-bp deletion. Ovals and rectangles represent cows and bulls, respectively. The bull born in 2020 and the SAMEA6272098 bull are related through a common ancestor. SAMEA5159783 is the oldest sequenced mutation carrier in the pedigree. b Each symbol represents the proportion of heterozygous genotypes observed within a 125-kb window for SAMEA6272098. Blue colour represents a 3.625-Mb segment of extended homozygosity encompassing BTA19:55436705TC>T (red vertical line). The green rectangle indicates the position of a BovineHD-based haplotype that encompasses the 1-bp deletion. c Structure of bovine QRICH2 isoforms with transcript-ID ENSBTAT00000065208, ENSBTAT00000064147, and ENSBTAT00000018337 encoding proteins with 1968 (ENSBTAP00000055962), 1934 (ENSBTAP00000054965) and 1827 (ENSBTAP00000018337) amino acids. Blue rectangles represent exons. The red vertical line indicates the position of the 1-bp deletion (BTA19:55436705TC>T). Orange colour indicates the position of a premature termination codon (“TGA”) that is introduced due to the shift in translation caused by the 1-bp deletion