Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.

ABSTRACT: Artificial insemination in pig (Sus scrofa domesticus) breeding involves the evaluation of the semen quality of breeding boars. Ejaculates that fulfill predefined quality requirements are processed, diluted and used for inseminations. Within short time, eight Swiss Large White boars producing immotile sperm that had multiple morphological abnormalities of the sperm flagella were noticed at a semen collection center. The eight boars were inbred on a common ancestor suggesting that the novel sperm flagella defect is a recessive trait. Transmission electron microscopy cross-sections revealed that the immotile sperm had disorganized flagellar axonemes. Haplotype-based association testing involving microarray-derived genotypes at 41,094 SNPs of six affected and 100 fertile boars yielded strong

SUBMITTER: Noskova A 

PROVIDER: S-EPMC8045731 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature