OMIA:002442-9823 : Sperm flagella defect, DNAH17-related in Sus scrofa (pig)
Categories: Reproductive system phene
Links to MONDO diseases: No links.
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.”
Have human generated variants been created, e.g. through genetic engineering and gene editing
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.”
Large White (Pig) (VBO_0001163).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DNAH17||Sus scrofa||12||NC_010454.4 (3485166..3590325)||DNAH17||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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||Large White (Pig)||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|
Cite this entry
|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.|
- Created by Imke Tammen2 on 28 Sep 2021
- Changed by Imke Tammen2 on 28 Sep 2021