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Volumn 65, Issue 6, 1999, Pages 1508-1519

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 dyskinesia

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE;

EID: 0033365058     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302683     Document Type: Article
Times cited : (310)

References (53)
  • 1
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia
    • Afzelius BA (1976) A human syndrome caused by immotile cilia. Science 193:317-319
    • (1976) Science , vol.193 , pp. 317-319
    • Afzelius, B.A.1
  • 2
    • 0022322468 scopus 로고
    • The immotile-cilia syndrome: A microtubule-associated defect
    • _ (1985) The immotile-cilia syndrome: a microtubule-associated defect. CRC Crit Rev Biochem 19:63-87
    • (1985) CRC Crit Rev Biochem , vol.19 , pp. 63-87
  • 3
    • 0030064645 scopus 로고    scopus 로고
    • Identification of seven rat axonemal dynein heavy chain genes: Expression during ciliated cell differentiation
    • Andrews KL, Nettesheim P, Asai DJ, Ostrowski LE (1996) Identification of seven rat axonemal dynein heavy chain genes: expression during ciliated cell differentiation. Mol Biol Cell 7:71-79
    • (1996) Mol Biol Cell , vol.7 , pp. 71-79
    • Andrews, K.L.1    Nettesheim, P.2    Asai, D.J.3    Ostrowski, L.E.4
  • 4
    • 0028285025 scopus 로고
    • The dynein genes of Paramecium tetraurelia. Sequences adjacent to the catalytic P-loop identify cytoplasmic and axonemal heavy chain isoforms
    • Asai DJ, Beckwith SM, Kandl KA, Keating HH, Tjandra H, Forney JD (1994) The dynein genes of Paramecium tetraurelia. Sequences adjacent to the catalytic P-loop identify cytoplasmic and axonemal heavy chain isoforms. J Cell Sci 107:839-847
    • (1994) J Cell Sci , vol.107 , pp. 839-847
    • Asai, D.J.1    Beckwith, S.M.2    Kandl, K.A.3    Keating, H.H.4    Tjandra, H.5    Forney, J.D.6
  • 5
    • 0026937592 scopus 로고
    • Flagella in prokaryotes and lower eukaryotes
    • Blair DF, Dutcher SK (1992) Flagella in prokaryotes and lower eukaryotes. Curr Opin Genet Dev 2:756-767
    • (1992) Curr Opin Genet Dev , vol.2 , pp. 756-767
    • Blair, D.F.1    Dutcher, S.K.2
  • 6
    • 0019959554 scopus 로고
    • Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease
    • Chao J, Turner JA, Sturgess JM (1982) Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease. Am Rev Respir Dis 126:302-305
    • (1982) Am Rev Respir Dis , vol.126 , pp. 302-305
    • Chao, J.1    Turner, J.A.2    Sturgess, J.M.3
  • 8
    • 0030860532 scopus 로고    scopus 로고
    • Isolation of several human axonemal dynein heavy chain genes: Genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment
    • Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S (1997b) 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
    • (1997) FEBS Lett , vol.412 , pp. 325-330
    • Chapelin, C.1    Duriez, B.2    Magnino, F.3    Goossens, M.4    Escudier, E.5    Amselem, S.6
  • 11
    • 0027952753 scopus 로고
    • Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins
    • Gibbons BH, Asai DJ, Tang WJ, Hays TS, Gibbons IR (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. Mol Biol Cell 5:57-70
    • (1994) Mol Biol Cell , vol.5 , pp. 57-70
    • Gibbons, B.H.1    Asai, D.J.2    Tang, W.J.3    Hays, T.S.4    Gibbons, I.R.5
  • 12
    • 0026425402 scopus 로고
    • Multiple nucleotide-binding sites in the sequence of dynein β heavy chain
    • Gibbons IR, Gibbons BH, Mocz G, Asai DJ (1991) Multiple nucleotide-binding sites in the sequence of dynein β heavy chain. Nature 352:640-643
    • (1991) Nature , vol.352 , pp. 640-643
    • Gibbons, I.R.1    Gibbons, B.H.2    Mocz, G.3    Asai, D.J.4
  • 13
    • 0028170819 scopus 로고
    • Dyneins: Molecular structure and cellular function
    • Holzbaur EL, Vallee RB (1994) Dyneins: molecular structure and cellular function. Annu Rev Cell Biol 10:339-372
    • (1994) Annu Rev Cell Biol , vol.10 , pp. 339-372
    • Holzbaur, E.L.1    Vallee, R.B.2
  • 14
    • 9844238708 scopus 로고    scopus 로고
    • Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene
    • Kastury K, Taylor WE, Shen R, Arver S, Gutierrez M, Fisher CE, Coucke PJ, et al (1997) Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. J Clin Endocrinol Metab 82:3047-3053
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3047-3053
    • Kastury, K.1    Taylor, W.E.2    Shen, R.3    Arver, S.4    Gutierrez, M.5    Fisher, C.E.6    Coucke, P.J.7
  • 15
    • 0028972116 scopus 로고
    • The 78,000-M(r) intermediate chain of Chlamydomonas outer arm dynein is a microtubule-binding protein
    • King SM, Patel-King RS, Wilkerson CG, Witman GB (1995) The 78,000-M(r) intermediate chain of Chlamydomonas outer arm dynein is a microtubule-binding protein. J Cell Biol 131:399-409
    • (1995) J Cell Biol , vol.131 , pp. 399-409
    • King, S.M.1    Patel-King, R.S.2    Wilkerson, C.G.3    Witman, G.B.4
  • 16
    • 0025923808 scopus 로고
    • The Mr 78,000 intermediate chain of Chlamydomonas outer arm dynein interacts with α-tubulin in situ
    • King SM, Wilkerson CG, Witman GB (1991) The Mr 78,000 intermediate chain of Chlamydomonas outer arm dynein interacts with α-tubulin in situ. J Biol Chem 266:8401-8407
    • (1991) J Biol Chem , vol.266 , pp. 8401-8407
    • King, S.M.1    Wilkerson, C.G.2    Witman, G.B.3
  • 17
    • 0029047003 scopus 로고
    • Ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms
    • LeDizet M, Piperno G (1995a) ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms. Mol Biol Cell 6:713-723
    • (1995) Mol Biol Cell , vol.6 , pp. 713-723
    • Ledizet, M.1    Piperno, G.2
  • 18
    • 0029020706 scopus 로고
    • The light chain p28 associates with a subset of inner dynein arm heavy chains in Chlamydomonas axonemes
    • LeDizet M, Piperno G (1995b) The light chain p28 associates with a subset of inner dynein arm heavy chains in Chlamydomonas axonemes. Mol Biol Cell 6:697-711
    • (1995) Mol Biol Cell , vol.6 , pp. 697-711
    • Ledizet, M.1    Piperno, G.2
  • 19
    • 0026605766 scopus 로고
    • A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes
    • Lemieux N, Dutrillaux B, Viegas-Pequignot E (1992) A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes. Cytogenet Cell Genet 59:311-312
    • (1992) Cytogenet Cell Genet , vol.59 , pp. 311-312
    • Lemieux, N.1    Dutrillaux, B.2    Viegas-Pequignot, E.3
  • 20
    • 0030239727 scopus 로고    scopus 로고
    • Characterization of a novel human dynein-related gene that is specifically expressed in testis
    • Milisav I, Jones MH, Affara NA (1996) Characterization of a novel human dynein-related gene that is specifically expressed in testis. Mamm Genome 7:667-672
    • (1996) Mamm Genome , vol.7 , pp. 667-672
    • Milisav, I.1    Jones, M.H.2    Affara, N.A.3
  • 21
    • 0025770089 scopus 로고
    • Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene
    • Mitchell DR, Kang Y (1991) Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene. J Cell Biol 113:835-842
    • (1991) J Cell Biol , vol.113 , pp. 835-842
    • Mitchell, D.R.1    Kang, Y.2
  • 22
    • 0030956345 scopus 로고    scopus 로고
    • The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex
    • Myster SH, Knott JA, O'Toole E, Porter ME (1997) The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex. Mol Biol Cell 8:607-620
    • (1997) Mol Biol Cell , vol.8 , pp. 607-620
    • Myster, S.H.1    Knott, J.A.2    O'Toole, E.3    Porter, M.E.4
  • 24
    • 0028076764 scopus 로고
    • The ancient regulatory-protein family of WD-repeat proteins
    • Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371:297-300
    • (1994) Nature , vol.371 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 25
    • 0030731609 scopus 로고    scopus 로고
    • Identification of dynein heavy chain genes expressed in human and mouse testis: Chromosomal localization of an axonemal dynein gene
    • Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, 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
    • (1997) Gene , vol.200 , pp. 193-202
    • Neesen, J.1    Koehler, M.R.2    Kirschner, R.3    Steinlein, C.4    Kreutzberger, J.5    Engel, W.6    Schmid, M.7
  • 26
    • 0031770948 scopus 로고    scopus 로고
    • Cytoplasmic dynein intermediate-chain isoforms with different targeting properties created by tissue-specific alternative splicing
    • Nurminsky DI, Nurminskaya MV, Benevolenskaya EV, Shevelyov YY, Hartl DL, Gvozdev VA (1998) Cytoplasmic dynein intermediate-chain isoforms with different targeting properties created by tissue-specific alternative splicing. Mol Cell Biol 18:6816-6825
    • (1998) Mol Cell Biol , vol.18 , pp. 6816-6825
    • Nurminsky, D.I.1    Nurminskaya, M.V.2    Benevolenskaya, E.V.3    Shevelyov, Y.Y.4    Hartl, D.L.5    Gvozdev, V.A.6
  • 27
    • 0026425498 scopus 로고
    • Four ATP-binding sites in the midregion of the β heavy chain of dynein
    • Ogawa K (1991) Four ATP-binding sites in the midregion of the β heavy chain of dynein. Nature 352:643-645
    • (1991) Nature , vol.352 , pp. 643-645
    • Ogawa, K.1
  • 28
    • 0029078097 scopus 로고
    • Interspecies conservation of outer arm dynein intermediate chain sequences defines two intermediate chain subclasses
    • Ogawa K, Kamiya R, Wilkerson CG, Witman GB (1995) Interspecies conservation of outer arm dynein intermediate chain sequences defines two intermediate chain subclasses. Mol Biol Cell 6:685-696
    • (1995) Mol Biol Cell , vol.6 , pp. 685-696
    • Ogawa, K.1    Kamiya, R.2    Wilkerson, C.G.3    Witman, G.B.4
  • 30
    • 0026706148 scopus 로고
    • Homology of the 74-kD cytoplasmic dynein subunit with a flagellar dynein polypeptide suggests an intracellular targeting function
    • Paschal BM, Mikami A, Pfister KK, Vallee RB (1992) Homology of the 74-kD cytoplasmic dynein subunit with a flagellar dynein polypeptide suggests an intracellular targeting function. J Cell Biol 118:1133-1143
    • (1992) J Cell Biol , vol.118 , pp. 1133-1143
    • Paschal, B.M.1    Mikami, A.2    Pfister, K.K.3    Vallee, R.B.4
  • 31
    • 0031774203 scopus 로고    scopus 로고
    • The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex
    • Perrone CA, Yang P, O'Toole E, Sale WS, Porter ME (1998) The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex. Mol Biol Cell 9:3351-3365
    • (1998) Mol Biol Cell , vol.9 , pp. 3351-3365
    • Perrone, C.A.1    Yang, P.2    O'Toole, E.3    Sale, W.S.4    Porter, M.E.5
  • 32
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative high-sensitivity, fluorescence hybridization
    • Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 33
    • 0030027155 scopus 로고    scopus 로고
    • Axonemal dyneins: Assembly, organization, and regulation
    • Porter ME (1996) Axonemal dyneins: assembly, organization, and regulation. Curr Opin Cell Biol 8:10-17
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 10-17
    • Porter, M.E.1
  • 34
    • 0028040415 scopus 로고
    • Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the β-dynein heavy chain
    • Porter ME, Knott JA, Gardner LC, Mitchell DR, Dutcher SK (1994) Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the β-dynein heavy chain. J Cell Biol 126:1495-1507
    • (1994) J Cell Biol , vol.126 , pp. 1495-1507
    • Porter, M.E.1    Knott, J.A.2    Gardner, L.C.3    Mitchell, D.R.4    Dutcher, S.K.5
  • 35
  • 37
    • 0018966917 scopus 로고
    • The dyskinetic cilia syndrome: Ciliary motility in immotile cilia syndrome
    • Rossman CM, Forrest JB, Lee RM, Newhouse MT (1980) The dyskinetic cilia syndrome: ciliary motility in immotile cilia syndrome. Chest 78:580-582
    • (1980) Chest , vol.78 , pp. 580-582
    • Rossman, C.M.1    Forrest, J.B.2    Lee, R.M.3    Newhouse, M.T.4
  • 38
    • 0030463112 scopus 로고    scopus 로고
    • The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the γ-dynein heavy chain
    • Rupp G, O'Toole E, Gardner LC, Mitchell BF, Porter ME (1996) The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the γ-dynein heavy chain. J Cell Biol 135:1853-1865
    • (1996) J Cell Biol , vol.135 , pp. 1853-1865
    • Rupp, G.1    O'Toole, E.2    Gardner, L.C.3    Mitchell, B.F.4    Porter, M.E.5
  • 39
    • 0023375195 scopus 로고
    • The neighbor-joining method: A new method for reconstructing phylogenetic trees
    • Saitou N, Nei M (1987) The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406-425
    • (1987) Mol Biol Evol , vol.4 , pp. 406-425
    • Saitou, N.1    Nei, M.2
  • 40
    • 0025894163 scopus 로고
    • A Chlamydomonas outer arm dynein mutant missing the α heavy chain
    • Sakakibara H, Mitchell DR, Kamiya R (1991) A Chlamydomonas outer arm dynein mutant missing the α heavy chain. J Cell Biol 113:615-622
    • (1991) J Cell Biol , vol.113 , pp. 615-622
    • Sakakibara, H.1    Mitchell, D.R.2    Kamiya, R.3
  • 41
    • 0027183187 scopus 로고
    • A Chlamydomonas outer arm dynein mutant with a truncated β heavy chain
    • Sakakibara H, Takada S, King SM, Witman GB, Kamiya R (1993) A Chlamydomonas outer arm dynein mutant with a truncated β heavy chain. J Cell Biol 122:653-661
    • (1993) J Cell Biol , vol.122 , pp. 653-661
    • Sakakibara, H.1    Takada, S.2    King, S.M.3    Witman, G.B.4    Kamiya, R.5
  • 45
    • 0029050552 scopus 로고
    • Identification and molecular evolution of new dynein-like protein sequences in rat brain
    • Tanaka Y, Zhang Z, Hirokawa N (1995) Identification and molecular evolution of new dynein-like protein sequences in rat brain. J Cell Sci 108:1883-1893
    • (1995) J Cell Sci , vol.108 , pp. 1883-1893
    • Tanaka, Y.1    Zhang, Z.2    Hirokawa, N.3
  • 46
    • 0027968068 scopus 로고
    • Clustal W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ (1994) Clustal W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22: 4673-4680
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 47
    • 0027421083 scopus 로고
    • Molecular analysis of the microtubule motor dynein
    • Vallee R (1993) Molecular analysis of the microtubule motor dynein. Proc Natl Acad Sci USA 90:8769-8772
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 8769-8772
    • Vallee, R.1
  • 49
    • 0028986323 scopus 로고
    • The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein is a WD-repeat protein required for arm assembly
    • Wilkerson CG, King SM, Koutoulis A, Pazour GJ, Witman GB (1995) The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein is a WD-repeat protein required for arm assembly. J Cell Biol 129:169-178
    • (1995) J Cell Biol , vol.129 , pp. 169-178
    • Wilkerson, C.G.1    King, S.M.2    Koutoulis, A.3    Pazour, G.J.4    Witman, G.B.5
  • 50
    • 0028205103 scopus 로고
    • Molecular analysis of the γ heavy chain of Chlamydomonas flagellar outer-arm dynein
    • Wilkerson CG, King SM, Witman GB (1994) Molecular analysis of the γ heavy chain of Chlamydomonas flagellar outer-arm dynein. J Cell Sci 107:497-506
    • (1994) J Cell Sci , vol.107 , pp. 497-506
    • Wilkerson, C.G.1    King, S.M.2    Witman, G.B.3
  • 52
    • 0033360998 scopus 로고    scopus 로고
    • Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia
    • Witt M, Wang Y, Wang S, Sun C, Pawlik J, Rutkiewicz E, Zebrak J, et al (1999) Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. Am J Hum Genet 64:313-318
    • (1999) Am J Hum Genet , vol.64 , pp. 313-318
    • Witt, M.1    Wang, Y.2    Wang, S.3    Sun, C.4    Pawlik, J.5    Rutkiewicz, E.6    Zebrak, J.7
  • 53
    • 0031593475 scopus 로고    scopus 로고
    • The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring
    • Yang P, Sale WS (1998) The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring. Mol Biol Cell 9:3335-3349
    • (1998) Mol Biol Cell , vol.9 , pp. 3335-3349
    • Yang, P.1    Sale, W.S.2


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