OMIA 001673-9823 : Spermatogenic arrest in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605792

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."

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, Finnish Yorkshire.

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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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Finnish Yorkshire Spermatogenic arrest TEX14 splicing 12 "a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon" 2011 22136159

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