OMIA 001334-9823 : Sperm, short tail in Sus scrofa

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615451

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

Species-specific name: Immotile short-tail sperm defect; Sterilizing short-tail sperm defect

Species-specific symbol: ISTS

Species-specific description: "The ISTS phenotype is characterized as lowered sperm counts, short sperm tails, and axonemal abnormalities" (Sironen et al., 2006)

Inheritance: Autosomal recessive, sex-limited

Molecular basis: "Sequence analysis of a candidate gene KPL2 revealed the presence of an inserted retrotransposon within an intron. The insertion affects splicing of the KPL2 transcript in two ways; it either causes skipping of the upstream exon, or causes the inclusion of an intronic sequence as well as part of the insertion in the transcript. Both changes alter the reading frame leading to premature termination of translation." (Sironen et al., 2006) The KPL2 gene is now called SPEF2 (sperm flagellar 2).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPEF2 sperm flagellar 2 Sus scrofa 16 NC_010458.4 (21088463..21264591) SPEF2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Sperm, short tail SPEF2 splicing an inserted retrotransposon within an intron 2006 16549801

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.
2008 Kopp, C., Sironen, A., Ijäs, R., Taponen, J., Vilkki, J., Sukura, A., Andersson, M. :
Infertile boars with knobbed and immotile short-tail sperm defects in the Finnish Yorkshire breed. Reprod Domest Anim 43:690-5, 2008. Pubmed reference: 18397189. DOI: 10.1111/j.1439-0531.2007.00971.x.
2007 Sironen, A., Vilkki, J., Bendixen, C., Thomsen, B. :
Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene. Mol Genet Genomics 278:385-91, 2007. Pubmed reference: 17610085. DOI: 10.1007/s00438-007-0256-7.
2006 Mikkola, M., Sironen, A., Kopp, C., Taponen, J., Sukura, A., Vilkki, J., Katila, T., Andersson, M. :
Transplantation of normal boar testicular cells resulted in complete focal spermatogenesis in a boar affected by the immotile short-tail sperm defect. Reprod Domest Anim 41:124-8, 2006. Pubmed reference: 16519717. DOI: 10.1111/j.1439-0531.2006.00651.x.
Sironen, A., Thomsen, B., Andersson, M., Ahola, V., Vilkki, J. :
An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig. Proc Natl Acad Sci U S A 103:5006-11, 2006. Pubmed reference: 16549801. DOI: 10.1073/pnas.0506318103.
2002 Sironen, A.I., Andersson, M., Uimari, P., Vilkki, J. :
Mapping of an immotile short tail sperm defect in the Finnish Yorkshire on porcine Chromosome 16 Mammalian Genome 13:45-49, 2002. Pubmed reference: 11773969.
Sukura, A., Makipaa, R., Vierula, M., Rodriguez-Martinez, H., Sundback, P., Andersson, M. :
Hereditary sterilizing short-tail sperm defect in Finnish Yorkshire boars Journal of Veterinary Diagnostic Investigation 14:382-388, 2002. Pubmed reference: 12296389.
2000 Andersson, M., Peltoniemi, O.A.T., Makinen, A., Sukura, A., Rodriguez-Martinez, H. :
The hereditary 'short tail' sperm defect - A new reproductive problem in Yorkshire boars Reproduction in Domestic Animals 35:59-63, 2000.

Edit History


  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 29 Nov 2011
  • Changed by Frank Nicholas on 09 Dec 2011