Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

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

Volumn 101, Issue 51, 2004, Pages 17819-17824

  Nishiguchi, Koji M ^a   Friedman, James S ^b   Sandberg, Michael A ^a   Swaroop, Anand ^b   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Cone photoreceptor; Retina; Retinitis pigmentosa; Transcription factor

Indexed keywords

LUCIFERASE; WT1 PROTEIN;

ANIMAL CELL; ARTICLE; BINDING SITE; BLINDNESS; CASE REPORT; CELL FUNCTION; COLOR VISION; CONTROLLED STUDY; DNA BINDING; EYE FUNDUS; GENE FUNCTION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LIGHT; MISSENSE MUTATION; MOLECULAR RECOGNITION; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PHENOTYPE; PIGMENT EPITHELIUM; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECESSIVE GENE; RETINA CONE; RETINA DEGENERATION; RETINA MACULA LUTEA; RETINA PIGMENT DEGENERATION; RETINA ROD; VISUAL FIELD; VISUAL STIMULATION;

AMINO ACID MOTIFS; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CONES (RETINA); DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; PROMOTER REGIONS (GENETICS); RETINAL DEGENERATION; RETINAL PIGMENTS; RHODOPSIN;

ANIMALIA;

EID: 11144241785     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0408183101     Document Type: Article

References (40)

1. Swaroop, A., Xu, J. Z., Pawar, H., Jackson, A., Skolnick, C. & Agarwal, N. (1992) Proc. Natl. Acad. Sci. USA 89, 266-270.
2. Rehemtulla, A., Warwar, R., Kumar, R., Ji, X., Zack, D. J. & Swaroop, A. (1996) Proc. Natl. Acad. Sci. USA 93, 191-195.
3. Kumar, R., Chen, S., Scheurer, D., Wang, Q. L., Duh, E., Sung, C. H., Rehemtulla, A., Swaroop, A., Adler, R. & Zack, D. J. (1996) J. Biol. Chem. 271, 29612-29618.
4. Chen, S., Wang, Q. L., Nie, Z., Sun, H., Lennon, G., Copeland, N. G., Gilbert, D. J., Jenkins, N. A. & Zack, D. J. (1997) Neuron 19, 1017-1030.
5. Mitton, K. P., Swain, P. K., Chen, S., Xu, S., Zack, D. J. & Swaroop, A. (2000) J. Biol. Chem. 275, 29794-29799.
6. Lerner, L. E., Gribanova, Y. E., Ji, M., Knox, B. E. & Farber, D. B. (2001) J. Biol. Chem. 276, 34999-35007.
7. Pittler, S. J., Zhang, Y., Chen, S., Mears, A. J., Zack, D. J., Ren, Z., Swain, P. K., Yao, S., Swaroop, A. & White, J. B. (2004) J. Biol. Chem. 279, 19800-19807.
8. Mears, A. J., Kondo, M., Swain, P. K., Takada, Y., Bush, R. A., Saunders, T. L., Sieving, P. A. & Swaroop, A. (2001) Nat. Genet. 29, 447-452.
9. Kobayashi, M., Takezawa, S., Hara, K., Yu, R. T., Umesono, Y., Agata, K., Taniwaki, M., Yasuda, K. & Umesono, K. (1999) Proc. Natl. Acad. Sci. USA 96, 4814-4819.
10. Akhmedov, N. B., Piriev, N. I., Chang, B., Rapoport, A. L., Hawes, N. L., Nishina, P. M., Nusinowitz, S., Heckenlively, J. R., Roderick, T. H., Kozak, C. A., et al. (2000) Proc. Natl. Acad. Sci. USA 97, 5551-5556.
11. Haider, N. B., Naggert, J. K. & Nishina, P. M. (2001) Hum. Mol. Genet. 10, 1619-1626.
12. Cheng, H., Khanna, H., Oh, E. C., Hicks, D., Mitton, K. P. & Swaroop, A. (2004) Hum. Mol. Genet. 13, 1563-1575.
13. Bumsted O'Brien, K. M., Cheng, H., Jiang, Y., Schulte, D., Swaroop, A. & Hendrickson, A. E. (2004) Invest. Ophthal. Vis. Sci. 45, 2807-2812.
14. Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., Beck, G., Hockey, R., Hanna, D. B., Gorman, S., et al. (2000) Nat. Genet. 24, 127-131.
15. Gerber, S., Rozet, J. M., Takezawa, S. I., dos Santos, L. C., Lopes, L., Gribouval, O., Penet, C., Perrault, I., Ducroq, D., Souied, E., et al. (2000) Hum. Genet. 107, 276-284.
16. Milam, A. H., Rose, L., Cideciyan, A. V., Barakat, M. R., Tang, W. X., Gupta, N., Aleman, T. S., Wright, A. F., Stone, E. M., Sheffield, V. C. & Jacobson, S. G. (2002) Proc. Natl. Acad. Sci. USA 99, 473-478.
17. Sharon, D., Sandberg, M. A., Caruso, R. C., Berson, E. L. & Dryja, T. P. (2003) Arch. Ophthalmol. 121, 1316-1323.
18. Marmor, M. F. (1989) Doc. Ophthalmol. 71, 265-269.
19. Fishman, G. A. & Peachey, N. S. (1989) Ophthalmology 96, 913-918.
20. Marmor, M. F., Jacobson, S. G., Foerster, M. H., Kellner, U. & Weleber, R. G. (1990) Am. J. Ophthalmol. 110, 124-134.
21. Jacobson, S. G., Marmor, M. F., Kemp, C. M. & Knighton, R. W. (1990) Invest. Ophthalmol. Vis. Sci. 31, 827-838.
22. Jacobson, S. G., Roman, A. J., Roman, M. I., Gass, J. D. & Parker, J. A. (1991) Am. J. Ophthalmol. 111, 446-453.
23. Hood, D. C., Cideciyan, A. V., Roman, A. J. & Jacobson, S. G. (1995) Vision Res. 35, 1473-1481.
24. Acar, C., Mears, A. J., Yashar, B. M., Maheshwary, A. S., Andreasson, S., Baldi, A., Sieving, P. A., Iannaccone, A., Musarella, M. A., Jacobson, S. G., et al. (2003) Mol. Vis. 9, 14-17.
25. Bessant, D. A., Payne, A. M., Mitton, K. P., Wang, Q. L., Swain, P. K., Plant, C., Bird, A. C., Zack, D. J., Swaroop, A. & Bhattacharya, S. S. (1999) Nat. Genet. 21, 355-356.
26. Martinez-Gimeno, M., Maseras, M., Baiget, M., Beneito, M., Antinolo, G., Ayuso, C. & Carballo, M. (2001) Hum. Mutat. 17, 520.
27. DeAngelis, M. M., Grimsby, J. L., Sandberg, M. A., Berson, E. L. & Dryja, T. P. (2002) Arch. Ophthalmol. 120, 369-375.
28. Bessant, D. A., Holder, G. E., Fitzke, F. W., Payne, A. M., Bhattacharya, S. S. & Bird, A. C. (2003) Arch. Ophthalmol. 121, 793-802.
29. Berson, E. L., Gouras, P. & Gunkel, R. D. (1968) Arch. Ophthalmol. 80, 58-67.
30. Reichel, E., Bruce, A. M., Sandberg, M. A. & Berson, E. L. (1989) Am. J. Ophthalmol. 108, 540-547.
31. Andreasson, S. O., Sandberg, M. A. & Berson, E. L. (1988) Am. J. Ophthalmol. 105, 500-503.
32. Alford, R. L., Hammond, H. A., Coto, I. & Caskey, C. T. (1994) Am. J. Hum. Genet. 55, 190-195.
33. Swain, P. K., Hicks, D., Mears, A. J., Apel, I. J., Smith, J. E., John, S. K., Hendrickson, A., Milam, A. H. & Swaroop, A. (2001) J. Biol. Chem. 276, 36824-36830.
34. Kerppola, T. K. & Curran, T. (1994) Oncogene 9, 3149-3158.
35. Reese, M. G., Eeckman, F. H., Kulp, D. & Haussler, D. (1997) J. Comput. Biol. 4, 311-323.
36. Sandberg, M. A. & Berson, E. L. (1977) Invest. Ophthalmol. Vis. Sci. 16, 149-157.
37. Greenstein, V. C., Hood, D. C., Ritch, R., Steinberger, D. & Carr, R. E. (1989) Invest. Ophthalmol. Vis. Sci. 30, 1732-1737.
38. To, K. W., Adamian, M., Jakobiec, F. A. & Berson, E. L. (1996) Arch. Ophthalmol. 114, 950-955.
39. Friedman, J. S., Khanna, H., Swain, P. K., DeNicola, R., Cheng, H., Mitton, K. P., Weber, C. H., Hicks, D. & Swaroop, A. (2004) J. Biol. Chem. 279, 47233-47241.
40. Motohashi, H., O'Connor, T., Katsuoka, F., Engel, J. D. & Yamamoto, M. (2002) Gene 294, 1-12.