A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 46, 2009, Pages 19581-19586

  Chang, Bo ^a   Grau, Tanja ^b   Dangel, Susann ^b   Hurd, Ron ^a   Jurklies, Bernhard ^c   Cumhur Sener, E ^d   Andreasson, Sten ^e   Dollfus, Helene ^f   Baumann, Britta ^b   Bolz, Sylvia ^b   Artemyev, Nikolai ^g   Kohl, Susanne ^b   Heckenlively, John ^h   Wissinger, Bernd ^b  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d HACETTEPE UNIVERSITY   (Turkey)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^g UNIVERSITY OF IOWA   (United States)

^h UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Cone photoreceptor; Hereditary retinal disorder; Phosphodiesterase

Indexed keywords

PHOSPHODIESTERASE; EYE PROTEIN; PDE6C PROTEIN, HUMAN; PHOSPHODIESTERASE VI;

ALPHA CHAIN; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COLOR BLINDNESS; COLOR DISCRIMINATION; COLOR VISION; CONTROLLED STUDY; CPFL1 GENE; ENZYME ACTIVE SITE; GENE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; MOUSE; NONHUMAN; PDE6C GENE; PHOTOPHOBIA; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; SEQUENCE HOMOLOGY; VISUAL ACUITY; ANIMAL; CHROMOSOME MAP; COLOR VISION DEFECT; GENETICS; MOUSE MUTANT; NUCLEOTIDE SEQUENCE; RNA SPLICING;

MURINAE;

ANIMALS; CHROMOSOME MAPPING; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HUMANS; MICE; MICE, MUTANT STRAINS; MUTATION, MISSENSE; RNA SPLICING;

EID: 73349130033     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0907720106     Document Type: Article

References (38)

1. Kawamura S, Tachibanaki S (2008) Rod and cone photoreceptors: Molecular basis of the difference in their physiology. Comp Biochem Physiol A Mol Integr Physiol 150:369-377.
2. Hess RF, Sharpe LT, Nordby K (1990) Night vision: Basic, clinical and applied aspects (Cambridge Univ Press, Cambridge).
3. Eksandh L, Kohl S, Wissinger B (2002) Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet 23:109-120.
4. Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH (2004) Molecular genetic findings in patients with congenital cone dysfunction: Mutations in the CNGA3, CNGB3, or GNAT2 genes. Ophthalmologe 101:830-835.
5. Khan NW, Wissinger B, Kohl S, Sieving PA (2007) CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 48:3864-3871.
6. Kohl S, et al. (1998) Total colorblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19:257-259.
7. Kohl S, et al. (2000) 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. Hum Mol Genet 9:2107-2116.
8. Sundin OH, et al. (2000) Genetic basis of total colorblindness among the Pingelapese islanders. Nat Genet 25:289-293.
9. Kohl S, et al. (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 71:422-425.
10. Aligianis IA, et al. (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.
11. Kohl S, et al. (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13:302-308.
12. Biel M, et al. (1999) Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acad Sci USA 96:7553-7557.
13. Banin E, et al. (2009) Cone dysfunction and congenital day blindness in Awassi sheep is caused by a mutation in the CNGA3 gene. Invest Ophthalmol Vis Sci 50:E4145.
14. Sidjanin DJ, et al. (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11:1823-1833.
15. Chang B, et al. (2006) Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 47:5017-5021.
16. Chang B, et al. (2002) Retinal degeneration mutants in the mouse. Vision Res 42:517-525.
17. Granovsky AE, et al. (1998) Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase. J Biol Chem 273:24485-24490.
18. Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR (2008) New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. Arch Ophthalmol 126:397-403.
19. Xu RX, et al. (2000) Atomic structure of PDE4: Insights into phosphodiesterase mechanism and specificity. Science 288:1822-1825.
20. Sung BJ, et al. (2003) Structure of the catalytic domain of human phosphodiesterase 5 with bound drug molecules. Nature 425:98-102.
21. Granovsky AE, Artemyev NO (2000) Identification of the gamma subunit-interacting residues on photoreceptor cGMP phosphodiesterase, PDE6alpha. J Biol Chem 275:41258-41262.
22. Wissinger B, et al. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69:722-737.
23. Michaelides M, et al. (2004) Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci 45:1975-1982.
24. Stearns G, Evangelista M, Fadool JM, Brockerhoff SE (2007) A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish. J Neurosci 27:13866-13874.
25. Nishiwaki Y, et al. (2008) Mutation of cGMP phosphodiesterase 6alpha′-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish. Mech Dev 125:932-946.
26. McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP (1995) Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 92:3249-3253.
27. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T (1994) Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet 7:64-68.
28. Bowes C, et al. (1990) Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature 347:677-680.
29. Gargini C, Terzibasi E, Mazzoni F, Strettoi E (2007) Retinal organization in the retinal degeneration 10(rd10) mutant mouse:Amorphological and ERG study. J Comp Neurol 500:222-238.
30. Farber DB, Lolley RN (1974) Cyclic guanosine monophosphate: Elevation in degenerating photoreceptor cells of the C3H mouse retina. Science 186:449-451.
31. Fox DA, Poblenz AT, He L (1999) Calcium overload triggers rod photoreceptor apoptotic cell death in chemical-induced and inherited retinal degenerations. Ann N Y Acad Sci 893:282-285.
32. Chang GQ, Hao Y, Wong F (1993) Apoptosis: Final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron 11:595-605.
33. Portera-Cailliau C, Sung CH, Nathans J, Adler R (1994) Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc Natl Acad Sci USA 91:974-978.
34. Doonan F, Donovan M, Cotter TG (2003) Caspase-independent photoreceptor apoptosis in mouse models of retinal degeneration. J Neurosci 23:5723-5731.
35. Sancho-Pelluz J, et al. (2008) Photoreceptor cell death mechanisms in inherited retinal degeneration. Mol Neurobiol 38:253-269.
36. Chen B, Cepko CL (2009) HDAC4 regulates neuronal survival in normal and diseased retinas. Science 323:256-259.
37. Hawes NL, et al. (1999) Mouse fundus photography and angiography: A catalogue of normal and mutant phenotypes. Mol Vis 5:22.
38. Natochin M, Artemyev NO (2000) Mutational analysis of functional interfaces of transducin. Methods Enzymol 315:539-554.