Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency

Human Molecular Genetics

Volumn 10, Issue 11, 2001, Pages 1117-1128

  Neesen, Juergen ^a   Kirschner, Renate ^a   Ochs, Matthias ^a   Schmiedl, Andreas ^a   Habermann, Barbara ^b   Mueller, Christian ^a   Holstein, Adolf Friedrich ^c   Nuesslein, Thomas ^d   Adham, Ibrahim ^a   Engel, Wolfgang ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d ST JOSEF HOSPITAL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNAH1 PROTEIN; DYNEIN ADENOSINE TRIPHOSPHATASE; GENE PRODUCT; ISOPROTEIN; MOUSE DYNEIN HEAVY CHAIN 7 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTHENOSPERMIA; CELL MOTION; CELL VIABILITY; CILIARY DYSKINESIA; CILIARY MOTILITY; CONGENITAL MALFORMATION; CONTROLLED STUDY; CORRELATION FUNCTION; FEMALE; FLAGELLUM; GENE; GENE MUTATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOTHESIS; MALE; MALE INFERTILITY; MAMMAL; NONHUMAN; OVIDUCT; PHENOTYPE; PRIORITY JOURNAL; PROGENY; RESPIRATORY TRACT INFECTION; SEQUENCE HOMOLOGY; SPERMATOZOON TAIL; TRACHEA; UTERUS; VELOCITY;

ANIMALIA; MAMMALIA;

EID: 14344274965     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.11.1117     Document Type: Article

References (54)

1. Gibbons, I.R. (1995) Dynein family of motor proteins: present status and future questions. Cell Motil. Cytoskeleton, 32, 136-144.
2. King, S.M. (2000) The dynein microtubule motor. Biochim. Biophys. Acta, 1496, 60-75.
3. Porter, M.E. (1996) Axonemal dyneins: assembly, organization, and regulation. Curr. Opin. Cell Biol., 8, 10-17.
4. Asai, D.J. (1995) Multi-dynein hypothesis. Cell Motil. Cytoskeleton, 32, 129-132.
5. Gibbons, B.H., Asai, D.J., Tang, W.J., Hays, T.S. and Gibbons, I.R. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. Mol. Biol. Cell, 5, 57-70.
6. Gibbons, I.R., Gibbons, B.H., Mocz, G. and Asai, D.J. (1991) Multiple nucleotide-binding sites in the sequence of dynein β heavy chain. Nature, 352, 640-643.
7. Sakakibara, H., Takada, S., King, S.M., Witman, G.B. and Kamiya, R. (1993) A Chlamydomonas outer arm dynein mutant with a truncated β heavy chain. J. Cell Biol., 122, 653-661.
8. Gee, M.A., Heuser, J.E. and Vallee, R.B. (1997) An extended microtubule-binding structure within the dynein motor domain. Nature, 390, 636-639.
9. Goodenough, U. and Heuser, J. (1984) Structural comparison of purified dynein proteins with in situ dynein arms. J. Mol. Biol., 180, 1083-1118.
10. Koonce, M.P. (1997) Identification of a microtubule-binding domain in a cytoplasmic dynein heavy chain. J. Biol. Chem., 272, 19714-19718.
11. Porter, M.E., Knott, J.A., Myster, S.H. and Farlow, S.J. (1996) The dynein gene family in Chlamydomonas reinhardtii. Genetics, 144, 569-585.
12. Goodenough, U.W., Gebhart, B., Mermall, V., Mitchell, D.R. and Heuser, J.E. (1987) High-pressure liquid chromatography fractionation of Chlamydomonas dynein extracts and characterization of inner-arm dynein subunits. J. Mol. Biol., 194, 481-494.
13. Kamiya, R. (1995) Exploring the function of inner and outer dynein arms with Chlamydomonas mutants. Cell Motil. Cytoskeleton, 32, 98-102.
14. Mitchell, D.R. and Rosenbaum, J.L. (1985) A motile Chlamydomonas flagellar mutant that lacks outer dynein arms. J. Cell Biol., 100, 1228-1234.
15. Sakakibara, H., Mitchell, D.R. and Kamiya, R. (1991) A Chlamydomonas outer arm dynein mutant missing the α heavy chain. J. Cell Biol., 113, 615-622.
16. Brokaw, C.J. and Kamiya, R. (1987) Bending patterns of Chlamydomonas flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function. Cell Motil. Cytoskeleton, 8, 68-75.
17. Andrews, K.L., Nettesheim, P., Asai, D.J. and Ostrowski, L.E. (1996) Identification of seven rat axonemal dynein heavy chain genes: expression during ciliated cell differentiation. Mol. Biol. Cell, 7, 71-79.
18. Chapelin, C., Duriez, B., Magnino, F., Goossens, M., Escudier, E. and Amselem, S. (1997) Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett., 412, 325-330.
19. Neesen, J., Koehler, M.R., Kirschner, R., Steinlein, C., Kreutzberger, J., Engel, W. and Schmid, M. (1997) Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene, 200, 193-202.
20. Tanaka, Y., Zhang, Z. and Hirokawa, N. (1995) Identification and molecular evolution of new dynein-like protein sequences in rat brain. J. Cell Sci., 108, 1883-1893.
21. Vaughan, K.T., Mikami, A., Paschal, B.M., Holzbaur, E.L.F., Hughes, S.M., Echeverri, C.J., Moore, K.J., Gilbert, D.J., Copeland, N.G., Jenkins, N.A. and Vallee, R.B. (1996) Multiple mouse chromosomal loci for dynein-based motility. Genomics, 36, 29-38.
22. Supp, D.M., Witte, D.P., Potter, S.S. and Brueckner, M. (1997) Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature, 389, 963-966.
23. Handel, M.A. and Kennedy, J.R. (1984) Situs inversus in homozygous mice without immotile cilia. J. Hered., 75, 498.
24. Supp, D.M., Brueckner, M., Kuehn, M.R., Witte, D.P., Lowe, L.A., McGrath, J., Corrales, J. and Potter, S.S. (1999) Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development, 126, 5495-5504.
25. Afzelius, B.A. (1976) A human syndrome caused by immotile cilia. Science, 193, 317-319.
26. Pennarun, G.E., Escudier, E., Chapelin, C., Bridoux, A.M., Cacheux, V., Roger, G., Clement, A., Goossens, M., Amselem, S. and Duriez, B. (1999) Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet., 65, 1508-1519.
27. Myster, S.H., Knott, J.A., Wysocki, K.M., O'Toole, E. and Porter, M.E. (1999) Domains in the 1α dynein heavy chain required for inner arm assembly and flagellar motility in Chlamydomonas. J. Cell Biol., 146, 801-818.
28. Perrone, C.A., Myster, S.H., Bower, R., O'Toole, E.T. and Porter, M.E. (2000) Insights into the structural organization of the I1 inner arm dynein from a domain analysis of the 1β dynein heavy chain. Mol. Biol. Cell, 11, 2297-2313.
29. Wilkerson, C.G., King. S.M. and Witman, G.B. (1994) Molecular analysis of the γ heavy chain of Chlamydomonas flagellar outer-arm dynein. J. Cell Sci., 107, 497-506.
30. Milisav, I., Jones, M.H. and Affara, N.A. (1996) Characterization of a novel human dynein-related gene that is specifically expressed in testis. Mamm. Genome, 7, 667-672.
31. Gibbons, B.H. and Gibbons, I.R. (1987) Vanadate-sensitized cleavage of dynein heavy chains by 365-nm irradiation of demembranated sperm flagella and its effect on the flagellar motility. J. Biol. Chem., 262, 8354-8359.
32. Kamiya, R. (1988) Mutations at twelve independent loci result in absence of outer dynein arms in Chylamydomonas reinhardtii. J. Cell Biol., 107, 2253-2258.
33. Kamiya, R., Kurimoto, E. and Muto, E. (1991) Two types of Chlamydomonas flagellar mutants missing different components of inner-arm dynein. J. Cell Biol., 112, 441-447.
34. Baker, H.W. (1994) Clinical male infertility. II. Critical evaluation of the prospects for therapy. Reprod. Fertil. Dev., 6, 9-12.
35. Courtade, M., Lagorce, C., Bujan, L., Caratero, C. and Mieusset, R. (1998) Clinical characteristics and light and transmission electron microscopic sperm defects of infertile men with persistent unexplained asthenozoospermia. Fertil. Steril., 70, 297-304.
36. Wilton, L.J., Temple-Smith, P.D. and de Kretser, D.M. (1992) Quantitative ultrastructural analysis of sperm tails reveals flagellar defects associated with persistent asthenozoospermia. Hum. Reprod., 7, 510-516.
37. Chemes, H.E, Olmedo, S.B., Carrere, C., Oses, R., Carizza, C., Leisner, M. and Blaquier, J. (1998) Ultrastructural pathology of the sperm flagellum: association between flagellar pathology and fertility prognosis in severely asthenozoospermic men. Hum. Reprod., 13, 2521-2526.
38. Rossman, C., Forrest, J. and Newhouse, M. (1980) Motile cilia in 'immotile cilia' syndrome [letter]. Lancet, 1, 1360.
39. Blouin, J.L., Meeks, M., Radhakrishna, U., Sainsbury, A., Gehring, C., Sail, G.D., Bartoloni, L., Dombi, V., O'Rawe, A., Walne, A. et al. (2000) Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. Eur. J. Hum. Genet., 8, 109-118.
40. Bryan, J.H. (1983) The immotile cilia syndrome. Mice versus man. Virchows Arch. A Pathol. Anal. Histopathol., 399, 265-275.
41. Torikata, C., Kijimoto, C. and Koto, M. (1991) Ultrastructure of respiratory cilia of WIC-Hyd male rats. An animal model for human immotile cilia syndrome. Am. J. Pathol., 138, 341-347.
42. Chen, J., Knowles, H.J., Hebert, J.L. and Hackett, B.P. (1998) Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. J. Clin. Invest., 102, 1077-1082.
43. Tybulewicz, V.L., Crawford, C.E., Jackson, P.K., Bronson, R.T. and Mulligan, R.C. (1991) Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell, 65, 1153-1163.
44. Wurst, W. and Joyner, A.L. (1993 Production of targeted embryonic stem cell clones. In Joyner, A.L. (ed.), Gene Targeting: A Practical Approach, IRL Press, Oxford, UK, pp. 33-61.
45. Wood, S.A., Allen, N.D., Rossant, J., Auerbach, A. and Nagy, A. (1993) Non-injection methods for the production of embryonic stem cell-embryo chimaeras. Nature, 365, 87-89.
46. Laird, P.W., Zijderveld, A., Linders, K., Rudnicki, M.A., Jaenisch, R. and Berns, A. (1991) Simplified mammalian DNA isolation procedure. Nucleic Acids Res., 19, 4293.
47. Hogan, B., Constantini, F. and Lacy, E. (1986) Manipulating the Mouse Embryo, Cold Spring Harbor Laboratory Press, Cold spring Harbor, NY.
48. Lemaire, L., Senftleben, A. and Heinlein, U.A. (1992) Characterization by enriched polyclonal antibodies of developmentally regulated and cell type specific mouse testis antigens. Life Sci., 51, 439-448.
49. van der Baan, S., Veerman, A.J.P., Wulffraat, N., Bezemer, P.D. and Feenstra, L. (1986) Primary ciliary dyskinesia: ciliary activity. Acta Otolaryngol., 102, 274-281.
50. Holzmann, D., Ott, P.M. and Felix, H. (2000) Diagnostic approach to primary ciliary dyskinesia. A review. Eur. J. Pediatr., 159, 95-98.
51. Yager, J., Chen, T.M. and Dulfano, M.J. (1978) Measurement of frequency of ciliary beats of human respiratory epithelium. Chest, 73, 627-633.
52. Fehrenbach, H. and Ochs, M. (1998) Studying lung ultrastructure. In Uhlig, S. and Taylor, A.E. (eds), Methods in Pulmonary Research, Birkhäuser, Basel, Switzerland, pp. 429-456.
53. Neesen, J., Bünemann, H. and Heinlein, U.A. (1994) The Drosophila hydei gene Dhmst101(1) encodes a testis-specific, repetitive, axoneme-associated protein with differential abundance in Y chromosomal deletion mutant flies. Dev. Biol., 162, 414-425.
54. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.