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Volumn 132, Issue 1, 2013, Pages 91-105

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; PROTEIN CCDC28B; UNCLASSIFIED DRUG;

EID: 84872319288     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1228-5     Document Type: Article
Times cited : (31)

References (66)
  • 1
    • 84856230537 scopus 로고    scopus 로고
    • Mechanisms regulating cilia growth and cilia function in endothelial cells
    • 21671118 10.1007/s00018-011-0744-0 1:CAS:528:DC%2BC38Xit1ynug%3D%3D
    • Abdul-Majeed S, Moloney BC, Nauli SM (2012) Mechanisms regulating cilia growth and cilia function in endothelial cells. Cell Mol Life Sci 69:165-173
    • (2012) Cell Mol Life Sci , vol.69 , pp. 165-173
    • Abdul-Majeed, S.1    Moloney, B.C.2    Nauli, S.M.3
  • 5
    • 0041308085 scopus 로고    scopus 로고
    • Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
    • 12837689 10.1093/hmg/ddg188 1:CAS:528:DC%2BD3sXltFygsL0%3D
    • Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12:1651-1659
    • (2003) Hum Mol Genet , vol.12 , pp. 1651-1659
    • Badano, J.L.1    Kim, J.C.2    Hoskins, B.E.3    Lewis, R.A.4    Ansley, S.J.5    Cutler, D.J.6    Castellan, C.7    Beales, P.L.8    Leroux, M.R.9    Katsanis, N.10
  • 7
    • 0037138403 scopus 로고    scopus 로고
    • Calmodulin signaling via the IQ motif
    • 11911888 10.1016/S0014-5793(01)03239-2
    • Bähler M, Rhoads A (2002) Calmodulin signaling via the IQ motif. FEBS Lett 513:107-113
    • (2002) FEBS Lett , vol.513 , pp. 107-113
    • Bähler, M.1    Rhoads, A.2
  • 8
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • 10874630 1:STN:280:DC%2BD3czjt1yjtg%3D%3D
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437-446
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 10
    • 62649147821 scopus 로고    scopus 로고
    • Sequence context-specific profiles for homology searching
    • Biegert A, Söding J (2009) Sequence context-specific profiles for homology searching. Proc Natl Acad Sci USA 106:3770-3775
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 3770-3775
    • Biegert, A.1    Söding, J.2
  • 11
    • 67649641820 scopus 로고    scopus 로고
    • BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population
    • 19402160 10.1002/humu.21040
    • Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E (2009) BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Hum Mutat 30:E737-E746
    • (2009) Hum Mutat , vol.30
    • Bin, J.1    Madhavan, J.2    Ferrini, W.3    Mok, C.A.4    Billingsley, G.5    Héon, E.6
  • 12
    • 0035252931 scopus 로고    scopus 로고
    • Coiled coils: A highly versatile protein folding motif
    • 11166216 10.1016/S0962-8924(00)01898-5 1:CAS:528:DC%2BD3MXpslyktg%3D%3D
    • Burkhard P, Stetefeld J, Strelkov SV (2001) Coiled coils: a highly versatile protein folding motif. Trends Cell Biol 11:82-88
    • (2001) Trends Cell Biol , vol.11 , pp. 82-88
    • Burkhard, P.1    Stetefeld, J.2    Strelkov, S.V.3
  • 13
    • 70449627625 scopus 로고    scopus 로고
    • Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies
    • 19876935 10.1002/ajmg.c.30227 1:CAS:528:DC%2BD1MXhsFWjsbzO
    • Cardenas-Rodriguez M, Badano JL (2009) Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet Part C Semin Med Genet 151C:263-280
    • (2009) Am J Med Genet Part C Semin Med Genet , vol.151 , pp. 263-280
    • Cardenas-Rodriguez, M.1    Badano, J.L.2
  • 14
    • 33745496759 scopus 로고    scopus 로고
    • The emerging complexity of the vertebrate cilium: New functional roles for an ancient organelle
    • 16824949 10.1016/j.devcel.2006.06.009 1:CAS:528:DC%2BD28XnsVWntrY%3D
    • Davis EE, Brueckner M, Katsanis N (2006) The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Dev Cell 11:9-19
    • (2006) Dev Cell , vol.11 , pp. 9-19
    • Davis, E.E.1    Brueckner, M.2    Katsanis, N.3
  • 16
    • 17244366458 scopus 로고    scopus 로고
    • Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut
    • 15716348 10.1242/dev.01663 1:CAS:528:DC%2BD2MXjsFentL0%3D
    • Essner JJ, Amack JD, Nyholm MK, Harris EB, Yost HJ (2005) Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut. Development 132:1247-1260
    • (2005) Development , vol.132 , pp. 1247-1260
    • Essner, J.J.1    Amack, J.D.2    Nyholm, M.K.3    Harris, E.B.4    Yost, H.J.5
  • 22
    • 0242578620 scopus 로고    scopus 로고
    • A simple, fast, and accurate algorithm to estimate large phylogenies by maximum likelihood
    • 14530136 10.1080/10635150390235520
    • Guindon S, Gascuel O (2003) A simple, fast, and accurate algorithm to estimate large phylogenies by maximum likelihood. Syst Biol 52:696-704
    • (2003) Syst Biol , vol.52 , pp. 696-704
    • Guindon, S.1    Gascuel, O.2
  • 23
    • 5744244393 scopus 로고    scopus 로고
    • Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
    • 15269178 10.1093/hmg/ddh219 1:CAS:528:DC%2BD2cXnsVyisrc%3D
    • Ibanez-Tallon I, Pagenstecher A, Fliegauf M, Olbrich H, Kispert A, Ketelsen UP, North A, Heintz N, Omran H (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet 13:2133-2141
    • (2004) Hum Mol Genet , vol.13 , pp. 2133-2141
    • Ibanez-Tallon, I.1    Pagenstecher, A.2    Fliegauf, M.3    Olbrich, H.4    Kispert, A.5    Ketelsen, U.P.6    North, A.7    Heintz, N.8    Omran, H.9
  • 24
    • 77953879123 scopus 로고    scopus 로고
    • The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia
    • 20603001 10.1016/j.cell.2010.05.015 1:CAS:528:DC%2BC3cXovFarur4%3D
    • Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141:1208-1219
    • (2010) Cell , vol.141 , pp. 1208-1219
    • Jin, H.1    White, S.R.2    Shida, T.3    Schulz, S.4    Aguiar, M.5    Gygi, S.P.6    Bazan, J.F.7    Nachury, M.V.8
  • 25
    • 0037100671 scopus 로고    scopus 로고
    • MAFFT: A novel method for rapid multiple sequence alignment based on fast Fourier transform
    • 12136088 10.1093/nar/gkf436 1:CAS:528:DC%2BD38XlslOqu7s%3D
    • Katoh K, Misawa K, Kuma K, Miyata T (2002) MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform. Nucleic Acid Res 30:3059-3066
    • (2002) Nucleic Acid Res , vol.30 , pp. 3059-3066
    • Katoh, K.1    Misawa, K.2    Kuma, K.3    Miyata, T.4
  • 28
    • 20144386878 scopus 로고    scopus 로고
    • MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
    • 15731008 10.1242/jcs.01676 1:CAS:528:DC%2BD2MXjs12mtrg%3D
    • Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR (2005) MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci 118:1007-1020
    • (2005) J Cell Sci , vol.118 , pp. 1007-1020
    • Kim, J.C.1    Ou, Y.Y.2    Badano, J.L.3    Esmail, M.A.4    Leitch, C.C.5    Fiedrich, E.6    Beales, P.L.7    Archibald, J.M.8    Katsanis, N.9    Rattner, J.B.10    Leroux, M.R.11
  • 30
    • 18844393668 scopus 로고    scopus 로고
    • Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis
    • 15790966 10.1242/dev.01772 1:CAS:528:DC%2BD2MXktlShsLs%3D
    • Kramer-Zucker AG, Olale F, Haycraft CJ, Yoder BK, Schier AF, Drummond IA (2005) Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development 132:1907-1921
    • (2005) Development , vol.132 , pp. 1907-1921
    • Kramer-Zucker, A.G.1    Olale, F.2    Haycraft, C.J.3    Yoder, B.K.4    Schier, A.F.5    Drummond, I.A.6
  • 35
    • 23044471766 scopus 로고    scopus 로고
    • An algorithm for progressive multiple alignment of sequences with insertions
    • 16000407 10.1073/pnas.0409137102
    • Loytynoja A, Goldman N (2005) An algorithm for progressive multiple alignment of sequences with insertions. Proc Natl Acad Sci U S A 102:10557-10562
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 10557-10562
    • Loytynoja, A.1    Goldman, N.2
  • 36
    • 0026356891 scopus 로고
    • Predicting coiled coils from protein sequences
    • 10.1126/science.252.5009.1162 1:CAS:528:DyaK3MXkvVOksLw%3D
    • Lupas A, Van Dyke M, Stock J (1991) Predicting coiled coils from protein sequences. Science 252:1162-1164
    • (1991) Science , vol.252 , pp. 1162-1164
    • Lupas, A.1    Van Dyke, M.2    Stock, J.3
  • 38
  • 39
    • 67649238467 scopus 로고    scopus 로고
    • Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions
    • 19396898 10.1002/cne.22001 1:CAS:528:DC%2BD1MXkvVGqtrY%3D
    • May-Simera HL, Ross A, Rix S, Forge A, Beales PL, Jagger DJ (2009) Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. J Comp Neurol 514:174-188
    • (2009) J Comp Neurol , vol.514 , pp. 174-188
    • May-Simera, H.L.1    Ross, A.2    Rix, S.3    Forge, A.4    Beales, P.L.5    Jagger, D.J.6
  • 40
    • 77955924401 scopus 로고    scopus 로고
    • Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish
    • 20643117 10.1016/j.ydbio.2010.07.013 1:CAS:528:DC%2BC3cXhtVKhsr7L
    • May-Simera HLKM, Hernandez V, Osborn DP, Tada M, Beales PL (2010) Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Dev Biol 345:215-225
    • (2010) Dev Biol , vol.345 , pp. 215-225
    • May-Simera, H.1    Hernandez, V.2    Osborn, D.P.3    Tada, M.4    Beales, P.L.5
  • 43
    • 82655180401 scopus 로고    scopus 로고
    • Protein disorder in the centrosome correlates with complexity in cell types number
    • 22076659 10.1039/c1mb05199g 1:CAS:528:DC%2BC3MXhsFKgs7jO
    • Nido GS, Méndez R, Pascual-García A, Abia D, Bastolla U (2012) Protein disorder in the centrosome correlates with complexity in cell types number. Mol BioSyst 8:353-367
    • (2012) Mol BioSyst , vol.8 , pp. 353-367
    • Nido, G.S.1    Méndez, R.2    Pascual-García, A.3    Abia, D.4    Bastolla, U.5
  • 45
    • 0034623005 scopus 로고    scopus 로고
    • T-Coffee: A novel method for fast and accurate multiple sequence alignment
    • 10964570 10.1006/jmbi.2000.4042 1:CAS:528:DC%2BD3cXmtVGntr8%3D
    • Notredame C, Higgins DG, Heringa J (2000) T-Coffee: a novel method for fast and accurate multiple sequence alignment. J Mol Biol 302:205-217
    • (2000) J Mol Biol , vol.302 , pp. 205-217
    • Notredame, C.1    Higgins, D.G.2    Heringa, J.3
  • 49
    • 84856489442 scopus 로고    scopus 로고
    • HHblits: Lightning-fast iterative protein sequence searching by HMM-HMM alignment
    • 22198341 10.1038/nmeth.1818
    • Remmert M, Biegert A, Hauser A, Söding J (2011) HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment. Nat Methods 9:173-175
    • (2011) Nat Methods , vol.9 , pp. 173-175
    • Remmert, M.1    Biegert, A.2    Hauser, A.3    Söding, J.4
  • 51
    • 76549121983 scopus 로고    scopus 로고
    • BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
    • 20080638 10.1073/pnas.0910268107 1:CAS:528:DC%2BC3cXhslOrsro%3D
    • Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci USA 107:1488-1493
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 1488-1493
    • Seo, S.1    Baye, L.M.2    Schulz, N.P.3    Beck, J.S.4    Zhang, Q.5    Slusarski, D.C.6    Sheffield, V.C.7
  • 53
    • 16344373015 scopus 로고    scopus 로고
    • Protein homology detection by HMM-HMM comparison
    • 15531603 10.1093/bioinformatics/bti125
    • Söding J (2005) Protein homology detection by HMM-HMM comparison. Bioinformatics 21:951-960
    • (2005) Bioinformatics , vol.21 , pp. 951-960
    • Söding, J.1
  • 54
    • 33747843430 scopus 로고    scopus 로고
    • HHsenser: Exhaustive transitive profile search using HMM-HMM comparison
    • 16845029 10.1093/nar/gkl195
    • Söding J, Remmert M, Biegert A, Lupas AN (2006) HHsenser: exhaustive transitive profile search using HMM-HMM comparison. Nucleic Acid Res 34:W374-W378
    • (2006) Nucleic Acid Res , vol.34
    • Söding, J.1    Remmert, M.2    Biegert, A.3    Lupas, A.N.4
  • 57
    • 84860833500 scopus 로고    scopus 로고
    • Reorganizing the protein space at the Universal Protein Resource (UniProt)
    • The Uniprot Consortium TU 10.1093/nar/gkr981
    • The Uniprot Consortium TU (2012) Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acid Res 40:D71-D75
    • (2012) Nucleic Acid Res , vol.40
  • 59
    • 61649116183 scopus 로고    scopus 로고
    • Primary cilia and signaling pathways in mammalian development, health and disease
    • 10.1159/000208212
    • Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST (2009) Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 111:39-53
    • (2009) Nephron Physiol , vol.111 , pp. 39-53
    • Veland, I.R.1    Awan, A.2    Pedersen, L.B.3    Yoder, B.K.4    Christensen, S.T.5
  • 62
    • 1542358787 scopus 로고    scopus 로고
    • Prediction and functional analysis of native disorder in proteins from the three kingdoms of life
    • 15019783 10.1016/j.jmb.2004.02.002 1:CAS:528:DC%2BD2cXhvFSltLc%3D
    • Ward JJ, Sodhi JS, McGuffin LJ, Buxton BF, Jones DT (2004) Prediction and functional analysis of native disorder in proteins from the three kingdoms of life. J Mol Biol 337:635-645
    • (2004) J Mol Biol , vol.337 , pp. 635-645
    • Ward, J.J.1    Sodhi, J.S.2    McGuffin, L.J.3    Buxton, B.F.4    Jones, D.T.5
  • 63
    • 65449188232 scopus 로고    scopus 로고
    • Jalview Version 2 - A multiple sequence alignment editor and analysis workbench
    • 19151095 10.1093/bioinformatics/btp033 1:CAS:528:DC%2BD1MXltFWis7Y%3D
    • Waterhouse AM, Procter JB, Martin DM, Clamp M, Barton GJ (2009) Jalview Version 2 - a multiple sequence alignment editor and analysis workbench. Bioinformatics 25:1189-1191
    • (2009) Bioinformatics , vol.25 , pp. 1189-1191
    • Waterhouse, A.M.1    Procter, J.B.2    Martin, D.M.3    Clamp, M.4    Barton, G.J.5
  • 64
    • 77952351554 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling
    • 20207729 10.1074/jbc.M109.070953 1:CAS:528:DC%2BC3cXmtVyktLk%3D
    • Wiens CJ, Tong Y, Esmail MA, Oh E, Gerdes JM, Wang J, Tempel W, Rattner JB, Katsanis N, Park HW, Leroux MR (2010) Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. J Biol Chem 285:16218-16230
    • (2010) J Biol Chem , vol.285 , pp. 16218-16230
    • Wiens, C.J.1    Tong, Y.2    Esmail, M.A.3    Oh, E.4    Gerdes, J.M.5    Wang, J.6    Tempel, W.7    Rattner, J.B.8    Katsanis, N.9    Park, H.W.10    Leroux, M.R.11
  • 65
    • 33144456230 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
    • 16399798 10.1093/hmg/ddi468 1:CAS:528:DC%2BD28XhsF2mtb4%3D
    • Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 15:667-677
    • (2006) Hum Mol Genet , vol.15 , pp. 667-677
    • Yen, H.J.1    Tayeh, M.K.2    Mullins, R.F.3    Stone, E.M.4    Sheffield, V.C.5    Slusarski, D.C.6
  • 66
    • 84859219770 scopus 로고    scopus 로고
    • BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
    • 22228099 10.1093/hmg/dds004 1:CAS:528:DC%2BC38XkvVeqsrY%3D
    • Zhang Q, Seo S, Bugge K, Stone EM, Sheffield VC (2012) BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet 21:1945-1953
    • (2012) Hum Mol Genet , vol.21 , pp. 1945-1953
    • Zhang, Q.1    Seo, S.2    Bugge, K.3    Stone, E.M.4    Sheffield, V.C.5


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