An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig

Proceedings of the National Academy of Sciences of the United States of America

Volumn 103, Issue 13, 2006, Pages 5006-5011

  Sironen, Anu ^a   Thomsen, Bo ^b   Andersson, Magnus ^c   Ahola, Virpi ^d   Vilkki, Johanna ^a  

^a ANIMAL PRODUCTION RESEARCH   (Finland)

^b DANISH INSTITUTE OF AGRICULTURAL SCIENCES   (Denmark)

^c UNIVERSITY OF HELSINKI   (Finland)

^d FINNISH FOREST RESEARCH INSTITUTE   (Finland)

Author keywords

Cilia; Retrotransposon; Spermatogenesis

Indexed keywords

ARTICLE; AXONEME; CHROMOSOME 16; CHROMOSOME 5P; CONTROLLED STUDY; EXON; FLAGELLUM; GENE; GENE INSERTION; GENE LOCUS; GENE MAPPING; INFERTILITY; INTRON; KPL2 GENE; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; RETROPOSON; RNA SPLICING; RNA TRANSLATION; SEQUENCE ANALYSIS; SPERMATOZOON MOTILITY; SWINE; TISSUE SPECIFICITY;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; EXONS; GENE EXPRESSION; INTRONS; MALE; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; ORGAN SPECIFICITY; SEQUENCE ALIGNMENT; SPERM MOTILITY; SPERM TAIL; SWINE; TESTIS;

SUIDAE; SUS SCROFA;

EID: 33645517835     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0506318103     Document Type: Article

References (32)

1. Blacque, O. E., Perens, E. A., Boroevich, K. A., Inglis, P. N., Li, C., Warner, A., Khattra, J., Holt, R. A., Ou, G. & Mah, A. K., et al. (2005) Curr. Biol. 15, 935-941.
2. Inaba, K. (2003) Zool. Sci. 20, 1043-1056.
3. Hackstein, J. H., Hochstenbach, R. & Pearson, P. L. (2000) Trends Genet. 16, 565-572.
4. Omoto, C. K., Gibbons, I. R., Kamiya, R., Shingyoji, C., Takahashi, K. & Witman, G. B. (1999) Mol. Biol. Cell 10, 1-4.
5. Porter, M. E. & Sale, W. S. (2000) J. Cell Biol. 151, F37-F42.
6. Pazour, G. J. & Witman, G. B. (2003) Curr. Opin. Cell Biol. 15, 105-110.
7. Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R. & Teslovich, T. M., et al. (2003) Nature 425, 628-633.
8. Katsanis, N., Lupski, J. R. & Beales, P. L. (2001) Hum. Mol. Genet. 10, 2293-2299.
9. Pazour, G. J. & Rosenbaum, J. L. (2002) Trends Cell Biol. 12, 551-555.
10. Van's Gravesande, K. S. & Omran, H. (2005) Ann. Med. 37, 439-449.
11. Pennarun, G., Escudier, E., Chapelin, C., Bridoux, A. M., Cacheux, V., Roger, G., Clement, A., Goossens, M., Amselem, S. & Duriez, B. (1999) Am. J. Hum. Genet. 65, 1508-1519.
12. Olbrich, H., Haffner, K., Kispert, A., Volkel, A., Volz, A., Sasmaz, G., Reinhardt, R., Hennig, S., Lehrach, H. & Konietzko, N., et al. (2002) Nat. Genet. 30, 143-144.
13. Bartoloni, L., Blouin, J. L., Pan, Y., Gehrig, C., Maiti, A. K., Scamuffa, N., Rossier, C., Jorissen, M., Armengot, M. & Meeks, M., et al. (2002) Proc. Natl. Acad. Sci. USA 99, 10282-10286.
14. Andersson, M., Peltoniemi, O., Makinen, A., Sukura, A. & Rodriguez-Martinez, H. (2000) Reprod. Domestic Anim. 35, 59.
15. Sironen, A. I., Andersson, M., Uimari, P. & Vilkki, J. (2002) Mamm. Genome 13, 45-49.
16. Ostrowski, L. E., Andrews, K., Potdar, P., Matsuura, H., Jetten, A. & Nettesheim, P. (1999) Am. J. Respir. Cell Mol. Biol. 20, 675-683.
17. Slaugenhaupt, S. A., Blumenfeld, A., Gill, S. P., Leyne, M., Mull, J., Cuajungco, M. P., Liebert, C. B., Chadwick, B., Idelson, M. & Reznik, L., et al. (2001) Am. J. Hum. Genet. 68, 598-605.
18. Vuoristo, M. M., Pappas, J. G., Jansen, V. & Ala-Kokko, L. (2004) Am. J. Med. Genet. A 130, 160-164.
19. Boissinot, S. & Furano, A. V. (2005) Cytogenet. Genome Res. 110, 402-406.
20. Thompson, J. D., Higgins, D. G. & Gibson, T. J. (1994) Nucleic Acids Res. 22, 4673-4680.
21. Chodhari, R., Mitchison, H. M. & Meeks, M. (2004) Paediatr. Respir. Rev. 5, 69-76.
22. Afzelius, B. A. (2004) J. Pathol 204, 470-477.
23. Okada, H., Fujioka, H., Tatsumi, N., Fujisawa, M., Gohji, K., Arakawa, S., Kato, H., Kobayashi, S., Isojima, S. & Kamidono, S. (1999) Hum. Reprod. 14, 110-113.
24. Neugebauer, D. C., Neuwinger, J., Jockenhovel, F. & Nieschlag, E. (1990) Hum. Reprod. 5, 981-986.
25. Zhang, H. & Mitchell, D. R. (2004) J. Cell Sci. 117, 4179-4188.
26. Adams, G. M., Huang, B., Piperno, G. & Luck, D. J. (1981) J. Cell Biol. 91, 69-76.
27. Horowitz, E., Zhang, Z., Jones, B. H., Moss, S. B., Ho, C., Wood, J. R., Wang, X., Sammel, M. D. & Strauss, J. F., III (2005) Mol. Hum. Reprod. 11, 307-317.
28. Zhang, Z., Kostetskii, I., Moss, S. B., Jones, B. H., Ho, C., Wang, H., Kishida, T., Gerton, G. L., Radice, G. L. & Strauss, J. F., III (2004) Proc. Natl. Acad. Sci. USA 101, 12946-12951.
29. Sapiro, R., Kostetskii, I., Olds-Clarke, P., Gerton, G. L., Radice, G. L. & Strauss, J. F., III (2002) Mol. Cell. Biol. 22, 6298-6305.
30. Anderson, S. I., Lopez-Corrales, N. L., Gorick, B. & Archibald, A. L. (2000) Mamm. Genome 11, 811-814.
31. Pfaffl, M. W. (2001) Nucleic Acids Res. 29, e45.
32. Pfaffl, M. W., Horgan, G. W. & Dempfle, L. (2002) Nucleic Acids Res. 30, e36.