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. 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 headers.
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.
| 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