Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects

Journal of Biological Chemistry

Volumn 273, Issue 40, 1998, Pages 25967-25973

  Nomura, Hideki ^a   Turco, Alberto E ^b   Pei, York ^c   Kalaydjieva, Luba ^d   Schiavello, Tina ^d   Weremowicz, Stanislawa ^a   Ji, Weizhen ^e   Morton, Cynthia C ^a   Meisler, Miriam ^a   Reeders, Stephen T ^a   Zhou, Jing ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d EDITH COWAN UNIVERSITY   (Australia)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; DNA LIBRARY; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; KIDNEY POLYCYSTIC DISEASE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; RETINA DISEASE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; GENE DELETION; GENE EXPRESSION REGULATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ION CHANNELS; KIDNEY; LINKAGE (GENETICS); LOD SCORE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; PROTEINS; RETINA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TRPP CATION CHANNELS;

ANIMALIA; MURINAE; RODENTIA;

EID: 0032475849     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.273.40.25967     Document Type: Article

References (39)

1. Gabow, P. A. (1993) N. Engl. J. Med. 329, 332-342
2. Daoust, M. C., Reynolds, D. M., Bichet, D. G., and Somlo, S. (1995) Genomics 25, 733-736
3. Turco, A. E., Clementi, M., Rossetti, S., Tenconi, R., and Pignatti, P. F. (1996) Am. J. Kidney Dis. 28, 759-761
4. The International Polycystic Kidney Disease Consortium (1995) Cell 81, 289-298
5. Hughes, J., Ward, C. J., Peral, B., Aspinwall, R., Clark, K., San Millan, J. L., Gamble, V., and Harris, P. C. (1995) Nat. Genet. 10, 151-160
6. The American Polycystic Kidney Disease 1 Consortium. (1995) Hum. Mol. Genet. 4, 575-582
7. Qian, F., Germino, F. J., Cai, Y., Zhang, X., Somlo, S., and Gennino, G. G. (1997) Nat. Genet. 16, 179-183
8. Tsiokas, L., Kim, E., Amould, T., Sukhatme, V. P., and Walz, G. (1997) Proc. Natl. Acad. Sci U. S. A. 94, 6965-6970
9. Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Deltas, C. C., Peters, D. J., and Somlo, S. (1996) Science 272, 1339-1342
10. Schneider, M. C., Rodriguez, A. M., Nomura, H., Zhou, J., Morton, C. C., Reeders, S. T., and Weremowicz, S. (1996) Genomics 38, 1-4
11. Genetics Computer Group (1994) Program Manual for the Wisconsin Package, Version 8, Madison, WI
12. Lupas, A., Van Dyke, M., and Stock, J. (1991) Science 252, 1162-1164
13. Berger, B., Wilson, D. B., Wolf, E., Tonchev, T., Milla, M., and Kim, P. S. (1995) Proc. Natl. Acad. Sci. U. S. A. 92, 8259-8263
14. Kyte, J., and Doolittle, R. F. (1982) J Mol Biol 157, 105-132
15. Stultz, C. M., White, J. V., and Smith, T. F. (1993) Protein Sci. 2, 305-314
16. White, J. V., Stultz, C. M., and Smith, T. F. (1994) Math Biosci. 119, 35-75
17. Hofmann, K., and Stoffel, W. (1993) Biol. Chem. Hoppe-Seyler 347, 166
18. Bihoreau, M. T., Ceccherini, I., Browne, J., Kranzlin, B., Romeo, G., Lathrop, G. M., James, M. R., and Gretz, N. (1997) Hum. Mol. Genet. 6, 609-613
19. Persson, B., and Argos, P. (1994) J. Mol. Biol. 237, 182-192
20. Zhao, Y., Bjorbaek, C., Weremowicz, S., Morton, C. C., and Moller, D. E. (1995) Mol. Cell. Biol. 15, 4353-4363
21. Ney, P. A., Andrews, N. C., Jane, S. M., Safer, B., Purucker, M. E., Weremowicz, S., Morton, C. C., Goff, S. C., Orkin, S. H., and Nienhuis, A. W. (1993) Mol. Cell. Biol. 13, 5604-5612
22. Stewart, E. A., McKusick, K. B., Aggarwal, A., Bajorek, E., Brady, S., Chu, A., Fang, N., Hadley, D., Harris, M., Hussain, S., Lee, R., Maratukulam, A., O'Connor, K., Perkins, S., Piercy, M., Qin, F., Reif, T., Sanders, C., She, X., Sun, W. L., Tabar, P., Voyticky, S., Cowles, S., Fan, J. B., Cox, D. R., et al. (1997) Genome Res. 7, 422-433
23. Ariza, M., Alvarez, V., Marin, R., Aguado, S., Lopez-Larrea, C., Alvarez, J., Menendez, M. J., and Coto, E. (1997) J. Med. Genet. 34, 587-589
24. Bogdanova, N., Dworniczak, B., Dragova, D., Todorov, V., Dimitrakov, D., Kalinov, K., Hallmayer, J., Horst, J., and Kalaydjieva, L. (1995) Hum. Genet. 95, 645-650
25. Marsden, B. J., Shaw, G. S., and Sykes, B. D. (1990) Biochem. Cell Biol. 68, 587-601
26. DeBry, R. W., and Seldin, M. F. (1996) Genomics 33, 337-351
27. Keller, S. A., Jones, J. M., Boyle, A., Barrow, L. L., Killen, P. D., Green, D. G., Kapousta, N. V., Hitchcock, P. F., Swank, R. T., and Meisler, M. H. (1994) Genomics 23, 309-320
28. de Leon, M., Wang, Y., Jones, L., Perez-Reyes, E., Wei, X., Soong, T. W., Snutch, T. P., and Yue, D. T. (1995) Science 270, 1502-1506
29. Doyle, D. A., Cabral, J. M., Pfuetzner, R. A., Kuo, A., Gulbis, J. M., Cohen, S. L., Chait, B. T., and MacKinnon, R. (1998) Science 280, 69-77
30. Yang, J., Ellinor, P. T., Sather, W. A., Zhang, J. F., and Tsien, R. W. (1993) Nature 366, 158-161
31. Perez-Reyes, E., Cribbs, L. L., Daud, A., Lacerda, A. E., Barclay, J., Williamson, M. P., Fox, M., Rees, M., and Lee, J. H. (1998) Nature 391, 896-900
32. Guay-Woodford, L. M., Muecher, G., Hopkins, S. D., Avner, E. D., Germino, G. G., Guillot, A. P., Herrin, J., Holleman, R., Irons, D. A., Primack, W., et al. (1995) Am. J. Hum. Genet. 56, 1101-1107
33. Sharp, C. K., Bergman, S. M., Stockwin, J. M., Robbin, M. L., Galliani, C., and Guay-Woodford, L. M. (1997) J. Am. Soc. Nephrol. 8, 77-84
34. Pirson, Y., Lannoy, N., Peters, D., Geubel, A., Gigot, J. F., Breuning, M., and Verellen-Dumoulin, C. (1996) Hepatology 23, 249-252
35. Kaplan, P., Ramos, F., Zackai, E. H., Bellah, R. D., and Kaplan, B. S. (1995) Am. J. Med. Genet. 56, 25-30
36. Fryns, J. P., Stinckens, C., and Feenstra, L. (1997) Clin. Genet. 51, 271-274
37. Torres, M., Gomez-Pardo, E., Dressler, G. R., and Gruss, P. (1995) Development 121, 4057-4065
38. Schieren, G., Pey, R., Bach, J., Hafner, M., and Gretz, N. (1996) Nephrol. Dial. Transplant. 11, Suppl. 6, 38-45
39. Gretz, N., Kranzlin, B., Pey, R., Schieren, G., Bach, J., Obermuller, N., Ceccherini, I., Kloting, I., Rohmeiss, P., Bachmann, S., and Hafner, M. (1996) Nephrol. Dial. Transplant. 11, Suppl. 6, 46-51