메뉴 건너뛰기




Volumn 49, Issue 8, 2010, Pages 1628-1639

The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change

Author keywords

[No Author keywords available]

Indexed keywords

ADVERSE EFFECT; ALLOSTERIC TRANSITION; C-TERMINAL DOMAINS; C-TERMINUS; CARBOXYL TERMINUS; CIRCULAR DICHROISM SPECTRA; CONE PHOTORECEPTORS; CONFORMATIONAL CHANGE; CYCLIC NUCLEOTIDE; CYTOSOLIC; ELECTROPHYSIOLOGICAL RECORDINGS; FOLDED STRUCTURES; FUNCTIONAL ACTIVITIES; GATED CHANNELS; GLUTATHIONE-S-TRANSFERASE; HEK-293; HELICAL CONTENT; HETEROLOGOUS EXPRESSION; INTRACELLULAR CA; RATIOMETRIC; SECONDARY STRUCTURES; STRUCTURAL IMPACT; WILD TYPES;

EID: 77749298947     PISSN: 00062960     EISSN: 15204995     Source Type: Journal    
DOI: 10.1021/bi901960u     Document Type: Article
Times cited : (18)

References (42)
  • 1
    • 0029998701 scopus 로고    scopus 로고
    • Structure and function of cyclic nucleotide-gated channels
    • Zagotta, W. N., and Siegelbaum, S. A. (1996) Structure and function of cyclic nucleotide-gated channels. Annu. Rev. Neurosci. 19, 235-263. (Pubitemid 26080829)
    • (1996) Annual Review of Neuroscience , vol.19 , pp. 235-263
    • Zagotta, W.N.1    Siegelbaum, S.A.2
  • 2
    • 0036301043 scopus 로고    scopus 로고
    • Cyclic nucleotide-gated ion channels
    • Kaupp, U. B., and Seifert, R. (2002) Cyclic nucleotide-gated ion channels. Physiol. Rev. 82, 769-824.
    • (2002) Physiol. Rev. , vol.82 , pp. 769-824
    • Kaupp, U.B.1    Seifert, R.2
  • 3
    • 0037028014 scopus 로고    scopus 로고
    • Subunit stoichiometry of the CNG channel of rod photoreceptors
    • DOI 10.1016/S0896-6273(02)01098-X, PII S089662730201098X
    • Weitz, D., Ficek, N., Kremmer, E., Bauer, P. J., and Kaupp, U. B. (2002) Subunit stoichiometry of the CNG channel of rod photoreceptors. Neuron 36, 881-889. (Pubitemid 35447859)
    • (2002) Neuron , vol.36 , Issue.5 , pp. 881-889
    • Weitz, D.1    Ficek, N.2    Kremmer, E.3    Bauer, P.J.4    Kaupp, U.B.5
  • 4
    • 2342548656 scopus 로고    scopus 로고
    • Subunit configuration of heteromeric cone cyclic nucleotide-gated channels
    • DOI 10.1016/S0896-6273(04)00225-9, PII S0896627304002259
    • Peng, C., Rich, E. D., and Varnum, M. D. (2004) Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron 42, 401-410. (Pubitemid 38610139)
    • (2004) Neuron , vol.42 , Issue.3 , pp. 401-410
    • Peng, C.1    Rich, E.D.2    Varnum, M.D.3
  • 5
    • 0034652101 scopus 로고    scopus 로고
    • Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina
    • Gerstner, A., Zong, X., Hofmann, F., and Biel, M. (2000) Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J. Neurosci. 20, 1324-1332. (Pubitemid 30220411)
    • (2000) Journal of Neuroscience , vol.20 , Issue.4 , pp. 1324-1332
    • Gerstner, A.1    Zong, X.2    Hofmann, F.3    Biel, M.4
  • 6
    • 0031803762 scopus 로고    scopus 로고
    • Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
    • DOI 10.1038/935
    • Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., and Wissinger, B. (1998) Total colourblindness is caused by mutations in the gene encoding the a-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet. 19, 257-259. (Pubitemid 28309337)
    • (1998) Nature Genetics , vol.19 , Issue.3 , pp. 257-259
    • Kohl, S.1    Marx, T.2    Giddings, I.3    Jagle, H.4    Jacobson, S.G.5    Apfelstedt-Sylla, E.6    Zrenner, E.7    Sharpe, L.T.8    Wissinger, B.9
  • 7
    • 14944385597 scopus 로고    scopus 로고
    • Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
    • DOI 10.1002/humu.20142
    • Nishiguchi, K. M., Sandberg, M. A., Gorji, N., Berson, E. L., and Dryja, T. P. (2005) Cone cGMP-gated channel mutations and clinical, findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum. Mutat. 25, 248-258. (Pubitemid 40365143)
    • (2005) Human Mutation , vol.25 , Issue.3 , pp. 248-258
    • Nishiguchi, K.M.1    Sandberg, M.A.2    Gorji, N.3    Berson, E.L.4    Dryja, T.P.5
  • 9
    • 0034284696 scopus 로고    scopus 로고
    • Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    • Kohl, S., Baumann, B., Broghammer, M., Jagle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L. T., and Wissinger, B. (2000) Mutations in the CNGB3 gene encoding the β3-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Mol. Genet. 9, 2107-2116. (Pubitemid 30682286)
    • (2000) Human Molecular Genetics , vol.9 , Issue.14 , pp. 2107-2116
    • Kohl, S.1    Baumann, B.2    Broghammer, M.3    Jagle, H.4    Sieving, P.5    Kellner, U.6    Spegal, R.7    Anastasi, M.8    Zrenner, E.9    Sharpe, L.T.10    Wissinger, B.11
  • 11
    • 2542485279 scopus 로고    scopus 로고
    • Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: A role for the S4 structural motif
    • Faillace, M. P., Bernabeu, R. O., and Korenbrot, J. I. (2004) Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: A role for the S4 structural motif. J. Biol. Chem. 279, 22643-22653.
    • (2004) J. Biol. Chem. , vol.279 , pp. 22643-22653
    • Faillace, M.P.1    Bernabeu, R.O.2    Korenbrot, J.I.3
  • 12
    • 21144442266 scopus 로고    scopus 로고
    • Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit
    • Liu, C., and Varnum, M. D. (2005) Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. Am. J. Physiol. 289, C187-C198.
    • (2005) Am. J. Physiol. , vol.289
    • Liu, C.1    Varnum, M.D.2
  • 13
    • 34548084060 scopus 로고    scopus 로고
    • Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
    • DOI 10.1016/j.bbrc.2007.07.152, PII S0006291X07016476
    • Muraki-Oda, S., Toyoda, F., Okada, A., Tanabe, S., Yamade, S., Ueyama, H., Matsuura, H., and Ohji, M. (2007) Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. Biochem. Biophys. Res. Commun. 362, 88-93. (Pubitemid 47296297)
    • (2007) Biochemical and Biophysical Research Communications , vol.362 , Issue.1 , pp. 88-93
    • Muraki-Oda, S.1    Toyoda, F.2    Okada, A.3    Tanabe, S.4    Yamade, S.5    Ueyama, H.6    Matsuura, H.7    Ohji, M.8
  • 14
    • 23244464493 scopus 로고    scopus 로고
    • Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel
    • DOI 10.1167/iovs.05-0179
    • Patel, K. A., Bartoli, K. M., Fandino, R. A., Ngatchou, A. N., Woch, G., Carey, J., and Tanaka, J. C. (2005) Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest. Ophthalmol. Visual Sci. 46, 2282-2290. (Pubitemid 43119470)
    • (2005) Investigative Ophthalmology and Visual Science , vol.46 , Issue.7 , pp. 2282-2290
    • Patel, K.A.1    Bartoli, K.M.2    Fandino, R.A.3    Ngatchou, A.N.4    Woch, G.5    Carey, J.6    Tanaka, J.C.7
  • 15
    • 42549108564 scopus 로고    scopus 로고
    • R563C
    • DOI 10.1111/j.1460-9568.2008.06195.x
    • Koeppen, K., Reuter, P., Kohl, S., Baumann, B., Ladewig, T., and Wissinger, B. (2008) Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur. J. Neurosci. 27, 2391-2401. (Pubitemid 351590905)
    • (2008) European Journal of Neuroscience , vol.27 , Issue.9 , pp. 2391-2401
    • Koeppen, K.1    Reuter, P.2    Kohl, S.3    Baumann, B.4    Ladewig, T.5    Wissinger, B.6
  • 16
    • 55349114752 scopus 로고    scopus 로고
    • Mutations in CNGA3 impair trafficking or function, of cone cyclic nucleotide-gated channels, resulting in achromatopsia
    • Reuter, P., Koeppen, K., Ladewig, T., Kohl, S., Baumann, B., and Wissinger, B. (2008) Mutations in CNGA3 impair trafficking or function, of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum. Mutat. 29, 1228-1236.
    • (2008) Hum. Mutat. , vol.29 , pp. 1228-1236
    • Reuter, P.1    Koeppen, K.2    Ladewig, T.3    Kohl, S.4    Baumann, B.5    Wissinger, B.6
  • 17
    • 41149090689 scopus 로고    scopus 로고
    • Functional activity of photoreceptor cyclic nucleotide-gated channels is dependent on the integrity of cholesteroland sphingolipid-enriched membrane domains
    • Ding, X. Q., Fitzgerald, J. B., Miatveev, A. V., McClellan, M. E., and Elliott, M. H. (2008) Functional activity of photoreceptor cyclic nucleotide-gated channels is dependent on the integrity of cholesteroland sphingolipid-enriched membrane domains. Biochemistry 47, 3677-3687.
    • (2008) Biochemistry , vol.47 , pp. 3677-3687
    • Ding, X.Q.1    Fitzgerald, J.B.2    Miatveev, A.V.3    McClellan, M.E.4    Elliott, M.H.5
  • 18
    • 33748484877 scopus 로고    scopus 로고
    • Hyperexcitability of convergent colon and bladder dorsal root ganglion neurons after colonic inflammation: Mechanism for pelvic organ cross-talk
    • DOI 10.1111/j.1365-2982.2006.00807.x
    • Malykhina, A. P., Qin, C., Greenwood-van Meerveld, B., Foreman, R. D., Lupu, F., and Akbarali, H. I. (2006) Hyperexcitability of convergent colon and bladder dorsal root ganglion neurons after colonic inflammation: Mechanism for pelvic organ cross-talk. Neurogastroenterol. Motil. 18, 936-948. (Pubitemid 44358864)
    • (2006) Neurogastroenterology and Motility , vol.18 , Issue.10 , pp. 936-948
    • Malykhina, A.P.1    Qin, C.2    Greenwood-Van Meerveld, B.3    Foreman, R.D.4    Lupu, F.5    Akbarali, H.I.6
  • 19
    • 38949085282 scopus 로고    scopus 로고
    • Functional expression, of cone cyclic nucleotide-gated channel in cone photoreceptor-derived 661W cells
    • Fitzgerald, J. B., Malykhina, A. P., Al-Ubaidi, M. R., and Ding, X. Q. (2008) Functional expression, of cone cyclic nucleotide-gated channel in cone photoreceptor-derived 661W cells. Adv. Exp. Med. Biol. 613, 327-334.
    • (2008) Adv. Exp. Med. Biol. , vol.613 , pp. 327-334
    • Fitzgerald, J.B.1    Malykhina, A.P.2    Al-Ubaidi, M.R.3    Ding, X.Q.4
  • 21
    • 15444379377 scopus 로고    scopus 로고
    • Role of the second intradiscal loop of peripherin/rds in homo and hetero associations
    • Ding, X. Q., Strieker, H. M., and Naash, M. I. (2005) Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. Biochemistry 44, 4897-4904.
    • (2005) Biochemistry , vol.44 , pp. 4897-4904
    • Ding, X.Q.1    Strieker, H.M.2    Naash, M.I.3
  • 22
    • 0027212498 scopus 로고
    • Solubilization and purification of enzymatically active glutathione S-transferase (pGEX) fusion proteins
    • DOI 10.1006/abio.1993.1170
    • Frangioni, J. V., and Neel, B. G. (1993) Solubilization and purification of enzymatically active glutathione S-transferase (pGEX) fusion proteins. Anal. Biochem. 210, 179-187. (Pubitemid 23147952)
    • (1993) Analytical Biochemistry , vol.210 , Issue.1 , pp. 179-187
    • Frangioni, J.V.1    Neel, B.G.2
  • 24
    • 0037388110 scopus 로고    scopus 로고
    • Self-association and conformational properties of RAG1: Implications for formation of the V(D)J recombinase
    • Godderz, L. J., Rahman, N. S., Risinger, G. M., Arbuckle, J. L., and Rodgers, K. K. (2003) Self-association and conformational properties of RAG1: Implications for formation of the V(D)J recombinase. Nucleic Acids Res. 31, 2014-2023.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 2014-2023
    • Godderz, L.J.1    Rahman, N.S.2    Risinger, G.M.3    Arbuckle, J.L.4    Rodgers, K.K.5
  • 25
    • 0034672325 scopus 로고    scopus 로고
    • Estimation of protein secondary structure from circular dichroism spectra: Comparison of CONTIN, SELCON, and CDSSTR methods with an expanded reference set
    • DOI 10.1006/abio.2000.4880
    • Sreerama, N., and Woody, R. W. (2000) Estimation of protein secondary structure from circular dichroism spectra: Comparison of CONTIN, SELCON, and CDSSTR methods with an expanded reference set. Anal. Biochem. 287, 252-260. (Pubitemid 32006234)
    • (2000) Analytical Biochemistry , vol.287 , Issue.2 , pp. 252-260
    • Sreerama, N.1    Woody, R.W.2
  • 26
    • 0036233457 scopus 로고    scopus 로고
    • Refinement of the conformation of a critical region of charge-charge interaction between cholecystokinin and its receptor
    • Ding, X. Q., Pinon, D. I., Furse, K. E., Lybrand, T. P., and Miller, L. J. (2002) Refinement of the conformation of a critical region of charge-charge interaction between cholecystokinin and its receptor. Mol. Pharmacol. 61, 1041-1052.
    • (2002) Mol. Pharmacol. , vol.61 , pp. 1041-1052
    • Ding, X.Q.1    Pinon, D.I.2    Furse, K.E.3    Lybrand, T.P.4    Miller, L.J.5
  • 28
    • 0037078979 scopus 로고    scopus 로고
    • The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichlometry
    • DOI 10.1038/nature01201
    • Zhong, H., Molday, L. L., Molday, R. S., and Yau, K. W. (2002) The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature 420, 193-198. (Pubitemid 35340125)
    • (2002) Nature , vol.420 , Issue.6912 , pp. 193-198
    • Zhong, H.1    Molday, L.L.2    Molday, R.S.3    Yau, K.-W.4
  • 29
    • 0034650323 scopus 로고    scopus 로고
    • Spectroscopic methods for analysis of protein secondary structure
    • DOI 10.1006/abio.1999.4320
    • Pelton, J. T., and McLean, L. R. (2000) Spectroscopic methods for analysis of protein secondary structure. Anal. Biochem. 277, 167-176. (Pubitemid 30055864)
    • (2000) Analytical Biochemistry , vol.277 , Issue.2 , pp. 167-176
    • Pelton, J.T.1    McLean, L.R.2
  • 30
    • 0031795747 scopus 로고    scopus 로고
    • Biomolecules interactions and competitions by non-immobilised ligand interaction assay by circular dichroism
    • Siligardi, G., and Hussain, R. (1998) Biomolecules interactions and competitions by non-immobilised ligand interaction assay by circular dichroism. Enantiomer 3, 77-87. (Pubitemid 28499743)
    • (1998) Enantiomer , vol.3 , Issue.2 , pp. 77-87
    • Siligardi, G.1    Hussain, R.2
  • 31
    • 5744251093 scopus 로고    scopus 로고
    • The R172W mutation in peripherin/rds causes a cone-rod dystophy in transgenic mice
    • DOI 10.1093/hmg/ddh211
    • Ding, X. Q., Nour, M., Ritter, L. M., Goldberg, A. F., Fliesler, S. J., and Naash, M. I. (2004) The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. Hum. Mol. Genet. 13, 2075-2087. (Pubitemid 39377830)
    • (2004) Human Molecular Genetics , vol.13 , Issue.18 , pp. 2075-2087
    • Ding, X.-Q.1    Nour, M.2    Ritter, L.M.3    Goldberg, A.F.X.4    Fliesler, S.J.5    Naash, M.I.6
  • 32
    • 0028951220 scopus 로고
    • Localization of regions affecting an allosteric transition in cyclic nucleotide-activated channels
    • Gordon, S. E., and Zagotta, W. N. (1995) Localization of regions affecting an allosteric transition in cyclic nucleotide-activated channels. Neuron 14, 857-864.
    • (1995) Neuron , vol.14 , pp. 857-864
    • Gordon, S.E.1    Zagotta, W.N.2
  • 33
    • 0034891882 scopus 로고    scopus 로고
    • Molecular regions controlling the activity of CNG channels
    • DOI 10.1085/jgp.118.2.183
    • Mottig, H., Kusch, J., Zimmer, T., Scholle, A., and Benndorf, K. (2001) Molecular regions controlling the activity of CNG channels. J. Gen. Physiol. 118, 183-192. (Pubitemid 32744523)
    • (2001) Journal of General Physiology , vol.118 , Issue.2 , pp. 183-191
    • Mottig, H.1    Kusch, J.2    Zimmer, T.3    Scholle, A.4    Benndorf, K.5
  • 35
    • 34249896932 scopus 로고    scopus 로고
    • Structure and rearrangements in the carboxy-terminal region of SpIH channels
    • DOI 10.1016/j.str.2007.04.008, PII S096921260700175X
    • Flynn, G. E., Black, K. D., Islas, L. D., Sankaran, B., and Zagotta, W. N. (2007) Structure and rearrangements in the carboxy-terminal region of SpIH channels. Structure 15, 671-682. (Pubitemid 46874078)
    • (2007) Structure , vol.15 , Issue.6 , pp. 671-682
    • Flynn, G.E.1    Black, K.D.2    Islas, L.D.3    Sankaran, B.4    Zagotta, W.N.5
  • 36
    • 0141831003 scopus 로고    scopus 로고
    • Structural basis for modulation and agonist specificity of HCN pacemaker channels
    • DOI 10.1038/nature01922
    • Zagotta, W. N., Olivier, N. B., Black, K. D., Young, E. C., Olson, R., and Gouaux, E. (2003) Structural basis for modulation and agonist specificity of HCN pacemaker channels. Nature 425, 200-205. (Pubitemid 37150901)
    • (2003) Nature , vol.425 , Issue.6954 , pp. 200-205
    • Zagotta, W.N.1    Olivier, N.B.2    Black, K.D.3    Young, E.C.4    Olson, R.5    Gouaux, E.6
  • 37
    • 10344247673 scopus 로고    scopus 로고
    • Salt bridges and gating in the COOH-terminal region of HCN2 and CNGA1 channels
    • Craven, K. B., and Zagotta, W. N. (2004) Salt bridges and gating in the COOH-terminal region of HCN2 and CNGA1 channels. J. Gen. Physiol. 124, 663-677.
    • (2004) J. Gen. Physiol. , vol.124 , pp. 663-677
    • Craven, K.B.1    Zagotta, W.N.2
  • 38
    • 47249125299 scopus 로고    scopus 로고
    • C-Terminal movement during gating in cyclic nucleotide-modulated channels
    • Craven, K. B., Olivier, N. B., and Zagotta, W. N. (2008) C-Terminal movement during gating in cyclic nucleotide-modulated channels. J. Biol. Chem. 283, 14728-14738.
    • (2008) J. Biol. Chem. , vol.283 , pp. 14728-14738
    • Craven, K.B.1    Olivier, N.B.2    Zagotta, W.N.3
  • 39
    • 0141884309 scopus 로고    scopus 로고
    • The birth of a channel
    • Deutsch, C. (2003) The birth of a channel. Neuron 40, 265-276.
    • (2003) Neuron , vol.40 , pp. 265-276
    • Deutsch, C.1
  • 40
    • 2442464375 scopus 로고    scopus 로고
    • Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG
    • Ficker, E., Dennis, A. T., Wang, L., and Brown, A. M. (2003) Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG. Circ. Res. 92, e87-e100.
    • (2003) Circ. Res. , vol.92
    • Ficker, E.1    Dennis, A.T.2    Wang, L.3    Brown, A.M.4
  • 41
    • 62849099990 scopus 로고    scopus 로고
    • Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia
    • Kizhatil, K., Baker, S. A., Arshavsky, V. Y., and Bennett, V. (2009) Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia. Science 323, 1614-1617.
    • (2009) Science , vol.323 , pp. 1614-1617
    • Kizhatil, K.1    Baker, S.A.2    Arshavsky, V.Y.3    Bennett, V.4
  • 42
    • 70449652532 scopus 로고    scopus 로고
    • Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II
    • Avasthi, P., Watt, B., Williams, D. S., Le, Y. Z., Li, S., Chen, C. K., Marc, R. E., Frederick, J. M., and Baehr, W. (2009) Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II. J Neurosci. 29, 14287-14298.
    • (2009) J Neurosci. , vol.29 , pp. 14287-14298
    • Avasthi, P.1    Watt, B.2    Williams, D.S.3    Le, Y.Z.4    Li, S.5    Chen, C.K.6    Marc, R.E.7    Frederick, J.M.8    Baehr, W.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.