OMIA 002442-9823 : Sperm flagella defect, DNAH17-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610063 (gene) , 618643 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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: Swiss Large White.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DNAH17 Sus scrofa - no genomic information (-..-) DNAH17 Ensembl

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1352 Swiss Large White Sperm flagella defect DNAH17 deletion, small (<=20) Naturally occurring variant Sscrofa11.1 12 g.3556402_3556414del Nosková et al. (2021): "intronic 13-bp deletion ... causes exon skipping which results in the in-frame loss of 89 amino acids from DNAH17" 2021 33724408

Reference


2021 Nosková, A., Hiltpold, M., Janett, F., Echtermann, T., Fang, Z.H., Sidler, X., Selige, C., Hofer, A., Neuenschwander, S., Pausch, H. :
Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing. Genetics 217:, 2021. Pubmed reference: 33724408. DOI: 10.1093/genetics/iyaa033.

Edit History


  • Created by Imke Tammen2 on 28 Sep 2021
  • Changed by Imke Tammen2 on 28 Sep 2021