Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610063 (gene) , 618643 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific description: Nosková et al. (2021): “eight Swiss Large White boars producing immotile sperm that had multiple morphological abnormalities of the sperm flagella were noticed at a semen collection center."

Inheritance: Nosková et al. (2021): “The eight boars were inbred on a common ancestor suggesting that the novel sperm flagella defect is a recessive trait.”

Mapping: Nosková et al. (2021): “Haplotype-based association testing involving microarray-derived genotypes at 41,094 SNPs of six affected and 100 fertile boars yielded strong association (P = 4.22 × 10-15) at chromosome 12. Autozygosity mapping enabled us to pinpoint the causal mutation on a 1.11 Mb haplotype located between 3,473,632 and 4,587,759 bp.”

Molecular basis: Nosková et al. (2021): “The haplotype carries an intronic 13-bp deletion (Chr12:3,556,401-3,556,414 bp) that is compatible with recessive inheritance. The 13-bp deletion excises the polypyrimidine tract upstream exon 56 of DNAH17 (XM_021066525.1: c.8510-17_8510-5del) encoding dynein axonemal heavy chain 17. Transcriptome analysis of the testis of two affected boars revealed that the loss of the polypyrimidine tract causes exon skipping which results in the in-frame loss of 89 amino acids from DNAH17.”

Clinical features: Nosková et al. (2021): “…Swiss Large White boars … produced ejaculates that contained spermatozoa with defective tails. Ejaculate volume and sperm concentration were normal. Microscopic semen analysis revealed multiple morphological abnormalities of the sperm flagella including rudimentary, short, coiled, and irregularly shaped tails … . Proximal cytoplasmic droplets were frequently observed at the junction of sperm head and tail. Progressively motile sperm were not detected in the ejaculates. Eosin-nigrosin staining of semen flushed from the epididymis of two affected boars indicated that 48 and 60% of the sperm were viable … .”

Pathology: Nosková et al. (2021): “Transmission electron microscopy cross-sections revealed that the immotile sperm had disorganized flagellar axonemes.”

Breed: Large White (Pig) (VBO_0001163).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: