A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

• DOI: 10.1186/s12711-022-00710-0
• Publication Date: 2022-03-07T10:06:57Z
• Authors: Maya Hiltpold; Fredi Janett; Xena Marie Mapel; Naveen Kumar Kadri; Zih-Hua Fang; Hermann Schwarzen...; Franz R. Seefried; Mirjam Spengeler; Ulrich Witschi; Hubert Pausch
• Keywords: Semen quality

Abstract Background Semen quality and insemination success are monitored in artificial bulls to ensure high male fertility rates. Only ejaculates that fulfill minimum requirements processed eventually used for inseminations. We examined 70,990 from 1343 Brown Swiss identify which all were rejected due low semen quality. This procedure identified a bull produced 12 with an aberrantly small number of sperm (0.2 ± 0.2 × 10 9 per mL) mostly immotile multiple morphological abnormalities. Results The genome this was sequenced at 12× coverage investigate possible genetic cause. Comparing the sequence variant genotypes those 397 fertile revealed 1-bp deletion coding QRICH2 gene encodes glutamine rich 2 protein, as compelling candidate causal variant. causes frameshift translation premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52). analysis testis transcriptomes 76 showed transcript is subject nonsense-mediated mRNA decay. resides 675-kb haplotype includes 181 single nucleotide polymorphisms (SNPs) Illumina BovineHD Bead chip. segregates frequency 5% cattle population. Our also another carried homozygous state. analyses second confirmed concentration abnormalities primarily affect flagellum and, lesser extent, head. Conclusions A recessive loss-of-function allele bovine likely Routine unambiguously allele. direct test can be implemented monitor undesired populations.