Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Human Molecular Genetics

Volumn 20, Issue 4, 2011, Pages 719-730

  Grau, Tanja ^a   Artemyev, Nikolai O ^b   Rosenberg, Thomas ^c,d   Dollfus, Hélène ^e   Haugen, Olav H ^f   Sener, E Cumhur ^g   Jurklies, Bernhard ^h   Andreasson, Sten ⁱ   Kernstock, Christoph ^j   Larsen, Michael ^c,k   Zrenner, Eberhart ^j   Wissinger, Bernd ^a   Kohl, Susanne ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF IOWA   (United States)

^c National Eye Clinic   (Germany)

^d The Gordon Norrie Centre for Genetic Eye Disease   (Germany)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^f HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^g HACETTEPE UNIVERSITY   (Turkey)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ LUND UNIVERSITY HOSPITAL   (Sweden)

^j UNIVERSITY OF TÜBINGEN   (Germany)

^k UNIVERSITY OF COPENHAGEN   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHODIESTERASE; PHOSPHODIESTERASE VI; ZAPRINAST;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CHILD; COHORT ANALYSIS; COLOR BLINDNESS; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; HUMAN; INHIBITION KINETICS; INSECT CELL; MAJOR CLINICAL STUDY; MALE; MUTANT; NONSENSE MUTATION; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PURIFICATION; RNA SPLICING; SCHOOL CHILD; SENSITIVITY ANALYSIS; WESTERN BLOTTING; WILD TYPE;

HEXAPODA;

EID: 78751683502     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq517     Document Type: Article

References (28)

1. Arshavsky, V. (2002) Like night and day: rods and cones have different pigment regeneration pathways. Neuron, 36, 1-3.
2. Conti, M. and Beavo, J. (2007) Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling. Annu. Rev. Biochem., 76, 481-511.
3. Francis, S.H., Corbin, J.D. and Bischoff, E. (2009) Cyclic GMP-hydrolyzing phosphodiesterases. Handb. Exp. Pharmacol., 191, 367-408.
4. Granovsky, A.E., Natochin, M., McEntaffer, R.L., Haik, T.L., Francis, S.H., Corbin, J.D. and Artemyev, N.O. (1998) Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase. J. Biol. Chem., 273, 24485-24490.
5. Granovsky, A.E. and Artemyev, N.O. (2000) Identification of the gamma subunit-interacting residues on photoreceptor cGMP phosphodiesterase, PDE6alpha'. J. Biol. Chem., 275, 41258-41262.
6. Granovsky, A.E. and Artemyev, N.O. (2001) A conformational switch in the inhibitory gamma-subunit of PDE6 upon enzyme activation by transducin. Biochemistry, 40, 13209-13215.
7. Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T. and Wissinger, B. (1998) Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet., 19, 257-259.
8. Kohl, S., Baumann, B., Broghammer, M., Jägle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L.T. et al. (2000) Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Mol. Genet., 9, 2107-2116.
9. Sundin, O.H., Yang, J.M., Li, Y., Zhu, D., Hurd, J.N., Mitchell, T.N., Silva, E.D. and Maumenee, I.H. (2000) Genetic basis of total colour blindness among the Pingelapese islanders. Nat. Genet., 25, 289-293.
10. Wissinger, B., Gamer, D., Jägle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T. et al. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet., 69, 722-737.
11. Aligianis, I.A., Forshew, T., Johnson, S., Michaelides, M., Johnson, C.A., Trembath, R.C., Hunt, D.M., Moore, A.T. and Maher, E.R. (2002) Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J. Med. Genet., 39, 656-660.
12. Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadala', M., Jacobson, S.G. and Wissinger, B. (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet., 71, 422-425.
13. Thiadens, A.A., Slingerland, N.W., Roosing, S., van Schooneveld, M.J., van Lith-Verhoeven, J.J., van Moll-Ramirez, N., van den Born, L.I., Hoyng, C.B., Cremers, F.P. and Klaver, C.C. (2009) Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology, 116, 1984-1989.
14. Thiadens, A.A., den Hollander, A.I., Roosing, S., Nabuurs, S.B., Zekveld-Vroon, R.C., Collin, R.W., De Baere, E., Koenekoop, R.K., van Schooneveld, M.J., Strom, T.M. et al. (2009) Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet., 85, 240-247.
15. Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E.C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S. et al. (2009) A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc. Natl Acad. Sci., 106, 19581-19586.
16. Kohl, S., Varsanyi, B., Antunes, G.A., Baumann, B., Hoyng, C.B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R. et al. (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur. J. Hum. Genet., 13, 302-308.
17. Muradov, K.G., Boyd, K.K., Martinez, S.E., Beavo, J.A. and Artemyev, N.O. (2003) The GAFa domains of rod cGMP-phosphodiesterase 6 determine the selectivity of the enzyme dimerization. J. Biol. Chem., 278, 10594-10601.
18. Martinez, S.E., Heikaus, C.C., Klevit, R.E. and Beavo, J.A. (2008) The structure of the GAF A domain from phosphodiesterase 6C reveals determinants of cGMP binding, a conserved binding surface, and a large cGMP-dependent conformational change. J. Biol. Chem., 283, 25913-25919.
19. Muradov, K.G., Granovsky, A.E., Schey, K.L. and Artemyev, N.O. (2002) Direct interaction of the inhibitory gamma-subunit of Rod cGMP phosphodiesterase (PDE6) with the PDE6 GAFa domains. Biochemistry, 41, 3884-3890.
20. Martinez, S.E., Wu, A.Y., Glavas, N.A., Tang, X.B., Turley, S., Hol, W.G. and Beavo, J.A. (2002) The two GAF domains in phosphodiesterase 2A have distinct roles in dimerization and in cGMP binding. Proc. Natl Acad. Sci. USA, 99, 13260-13265.
21. He, F., Seryshev, A.B., Cowan, C.W. and Wensel, T.G. (2000) Multiple zinc binding sites in retinal rod cGMP phosphodiesterase, PDE6alpha beta. J. Biol. Chem., 275, 20572-20577.
22. Thiadens, A.A., Somervuo, V., van den Born, L.I., Roosing, S., van Schooneveld, M.J., Kuijpers, R.W., van Moll-Ramirez, N., Cremers, F.P., Hoyng, C.B. and Klaver, C. (2010) Progressive loss of cones in achromatopsia. An imaging study using spectral-domain optical coherence tomography. Invest. Ophthalmol. Vis. Sci., 51, 5952-5957.
23. Kelly, J.P., Crognale, M.A. and Weiss, A.H. (2003) ERGs, cone-isolating VEPs and analytical techniques in children with cone dysfunction syndromes. Doc. Ophthalmol., 106, 289-304.
24. Thiadens, A.A., Roosing, S., Collin, R.W., van Moll-Ramirez, N., van Lith-Verhoeven, J.J., van Schooneveld, M.J., den Hollander, A.I., van den Born, L.I., Hoyng, C.B., Cremers, F.P. et al. (2010) Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology, 117, 825-830.
25. Muradov, K.G., Granovsky, A.E. and Artemyev, N.O. (2003) Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. Biochemistry, 42, 3305-3310.
26. Muradov, H., Boyd, K.K., Haeri, M., Kerov, V., Knox, B.E. and Artemyev, N.O. (2009) Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods. J. Biol. Chem., 284, 32662-32669.
27. Natochin, M. and Artemyev, N.O. (2000) Mutational analysis of functional interfaces of transducin. Methods Enzymol., 315, 539-554.
28. Arnold, K., Bordoli, L., Kopp, J. and Schwede, T. (2006) The SWISS-MODEL Workspace: a web-based environment for protein structure homology modeling. Bioinformatics, 22, 195-201.