OMIA:001673-9823 : Spermatogenic arrest, TEX14-related in Sus scrofa (pig) |
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605792 (gene) , 617707 (trait)
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: 2011
Species-specific description: As reported by Sironen et al. (2011), this disorder is characterised by "severe degeneration of germ cells and total absence of spermatozoa".
Mapping: From a genome-wide scan conducted with markers on the PorcineSNP60 Beadchip, Sironen et al. (2011) mapped this disorder to a 2 Mb region on chromosome SSC12.
Molecular basis: As reported by Sironen et al. (2011), the 2 Mb region on SSc12 contained the gene TEX14, which was a strong candidate because mice in which this gene has been knocked out have a very similar phenotype to affected pigs. Sequencing of this gene in affected pigs "revealed a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon. The expression of Tex14 was markedly down regulated in the testis of a SA affected boar compared to control boars and no protein product was identified by Western blotting."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: The disorder was first reported by Kopp et al. (2008). In the words of Sironen et al. (2011), "The testicular size appeared to be approximately half of the normal size in affected boars and microscopical examination of the ejaculate revealed total absence of spermatozoa . . . . Further histological examination of the . . . affected testis sections showed markedly reduced number of late meiotic cells and absence of postmeiotic cells . . . . Furthermore, affected testes displayed severe degeneration of germ cells and vacuolization probably due to increased germ cell apoptosis".
Breeds:
Finnish Landrace (Sheep) (VBO_0001414),
Large White, Finland (Pig) (VBO_0012408).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TEX14 | testis expressed 14 | Sus scrofa | - | no genomic information (-..-) | TEX14 | Homologene, Ensembl , NCBI gene |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 912 | Large White, Finland (Pig) | Spermatogenic arrest | TEX14 | splicing | Naturally occurring variant | 12 | "a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon" | 2011 | 22136159 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:001673-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2011 | Sironen, A., Uimari, P., Venhoranta, H., Andersson, M., Vilkki, J. : |
| An exonic insertion within Tex14 gene causes spermatogenic arrest in pigs. BMC Genomics 12:591, 2011. Pubmed reference: 22136159. DOI: 10.1186/1471-2164-12-591. | |
| 2008 | Kopp, C., Ijäs, R., Flyckt, A., Taponen, J., Parvinen, M., Andersson, M. : |
| Morphometric evaluations of testicular tissues from azoospermic boars in Finnish Yorkshire and Landrace breeds. Theriogenology 70:1129-35, 2008. Pubmed reference: 18640712. DOI: 10.1016/j.theriogenology.2008.06.034. |
Edit History
- Created by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011