The structure of a PKD domain from polycystin-1: Implications for polycystic kidney disease

EMBO Journal

Volumn 18, Issue 2, 1999, Pages 297-305

  Bycroft, Mark ^a   Bateman, Alex ^c   Clarke, Jane ^b   J hamill, Stefan ^a   Sandford, Richard ^b   L thomas, Ruth ^b   Chothia, Cyrus ^d  

^a MRC CENTRE FOR PROTEIN ENGINEERING   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

Domain; Ig like fold; PKD 1; Polycystin 1

Indexed keywords

CARBOHYDRATE BINDING PROTEIN; GLYCOPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONSERVED SEQUENCE; DNA PRIMERS; ESCHERICHIA COLI; FISHES, POISONOUS; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; PROTEINS; RECOMBINANT PROTEINS; TRPP CATION CHANNELS;

TAKIFUGU;

EID: 0033555277     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/18.2.297     Document Type: Article

References (32)

1. Arnould, T., Kim, E., Tsiokas, L., Jochimsen, F., Gruning, W., Chang, J.D. and Walz, G. (1998) The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1. J. Biol. Chem., 273, 6013-6018.
2. Bairoch, A. and Apweiler, R. (1998) The SWISS-PROT protein sequence data bank and its supplement TREMBL in 1998. Nucleic Acids Res., 26, 38-42.
3. Bax, A. and Grzesiek, S. (1993) Methodological advances in protein NMR. Acc. Chem. Res., 26, 131-138.
4. Bork, P., Holm, L. and Sander, C. (1994) The immunoglobulin fold -structural classification, sequence patterns and common core. J. Mol. Biol., 242, 309-320.
5. Brasier, J.L. and Henske, E.P. (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest., 99, 194-199.
6. Brunger, A.T. (1992) X-PLOR v3.1 A System for X-ray Crystallography and NMR. Yale University Press, New Haven, CT.
7. The European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14-kb transcript and lies within a duplicated region on chromosome-16. Cell, 77, 881-894.
8. Fong, S., Hamill, S.J., Proctor, M., Freund, S., Benian, G.M., Chothia, C., Bycroft, M. and Clarke, J. (1996) Structure and stability of an immunoglobulin superfamily domain from twitchin, a muscle protein of the nematode Caenorhabditis elegans. J. Mol. Biol., 264, 624-639.
9. Geng, L. et al. (1996) Identification and localization of polycystin, the PKD1 gene product. J. Clin. Invest., 98, 2674-2682.
10. Harpaz, Y. and Chothia, C. (1994) Many of the immunoglobulin superfamily domains in cell-adhesion molecules and surface-receptors belong to a new structural set which is close to that containing variable domains. J. Mol. Biol., 238, 528-539.
11. Hemmingsen, J.M., Gernert, K.M., Richardson, J.S. and Richardson, D.C. (1994) The tyrosine corner - a feature of most Greek key β-barrel proteins. Protein Sci., 3, 1927-1937.
12. Hughes, J., Ward, C.J., Peral, B., Aspinwall, R., Clark, K., Sanmillan, J.L., Gamble, V. and Harris, P.C. (1995) The polycystic kidney-disease-1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet., 10, 151-160.
13. Ibraghimov Beskrovnaya, O. et al. (1997) Polycystin: in vitro synthesis, in viro tissue expression and subcellular localization identifies a large membrane-associated protein. Proc. Natl Acad. Sci. USA, 94, 6397-6402.
14. The International Polycystic Kidney Disease Consortium (1995) Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell, 81, 289-298.
15. Jones, E.Y., Harlos, K., Bottomley, M.J., Robinson, R.C., Driscoll, P.C., Edwards, R.M., Clements, J.M., Dudgeon, T.J. and Stuart, D.I. (1995) Crystal-structure of an integrin-binding fragment of vascular cell-adhesion molecule-1 at 1.8 Å resolution. Nature, 373, 539-544.
16. Kraulis, P.J. (1991) Molscript - A program to produce both detailed and schematic plots of protein structures. J. Appl. Crystallogr., 24, 946-950.
17. Laskowski, R.A., MacArthur, M.W., Moss, D.S. and Thornton, J.M. (1993) Procheck - A program to check the stereochemical quality of protein structures. J. Appl. Crystallogr., 26, 283-291.
18. Little, E., Bork, P. and Doolittle, R.F. (1994) Tracing the spread of fibronectin type III domains in bacterial glycohydrolases. J. Mol. Evol., 39, 631-643.
19. Miroux, B. and Walker, J.E. (1996) Over-production of proteins in Escherichia coli - mutant hosts that allow synthesis of some membrane-proteins and globular-proteins at high-levels. J. Mol. Biol., 260, 289-298.
20. Moy, G.W., Mendoza, L.M., Schulz, J.R., Swanson, W.J., Glabe, C.G. and Vacquier, V.D. (1996) The sea-urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney-disease protein, PKD1. J. Cell Biol., 133, 809-817.
21. Murzin, A.G., Brenner, S.E., Hubbard, T. and Chothia, C. (1995) SCOP -a structural classification of proteins database for the investigation of sequences and structures. J. Mol. Biol., 247, 536-540.
22. Neri, D., Szyperski, T., Otting, G., Senn, H. and Wuthrich, K. (1989) Stereospecific nuclear magnetic resonance assignments of the methyl groups of valine and leucine in the DNA binding domain of the 434-repressor by biosynthetically directed fractional C-13 labeling. Biochemistry, 28, 7510-7516.
23. Peters, D.J.M. and Sandkuijl, L.A. (1992) Genetic heterogeneity of polycystic kidney disease in Europe. In Breuning, M.H., Devoto, M. and Romeo, G. (eds), Contributions to Nephrology, Polycystic Kidney Disease, Karger, Basel, Switzerland.
24. Pirson, Y., Chauveau, D. and Grunfeld, J.P. (1998) Autosomal dominant polycystic renal disease. In Alex Davison, J.S.C., Grunfeld, J.-P., Kerr, D., Ritz, E. and Winearls, C. (eds) The Oxford Textbook of Clinical Nephrology. 2nd edition. Oxford University Press, Oxford, UK, pp. 2393-2410.
25. Qian, F, Watnick, T.J., Onuchic, L.F. and Germino, G.G. (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type-I. Cell, 87, 979-987.
26. Qian, F., Germino, F.J., Cai, Y.Q., Zhang, X.B., Somlo, S. and Germino, G.G. (1997) PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet., 16, 179-183.
27. Sandford, R. et al. (1997) Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum. Mol. Genet., 6, 1483-1489.
28. Stonehouse, J. and Keekr, J. (1995) A convenient and accurate method for the measurement of the values of spin-spin coupling constants. J. Magn. Res., A 112, 43-57.
29. Tsiokas, L., Kim, E., Arnould, T., Sukhatme, V.P. and Walz, G. (1997) Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc. Natl Acad. Sci. USA, 94, 6965-6970.
30. van Adelsberg, J., Chamberlain, S. and Dagati, V. (1997) Polycystin expression is temporally and spatially regulated during renal development. Am. J. Physiol., 272, F602-F609.
31. Wootton, J.C. (1994) Sequences with unusual amino-acid compositions. Curr. Opin. Struct. Biol., 4, 413-421.
32. Wuthrich, K. (1986) NMR of Proteins and Nucleic Acids. John Wiley, New York, NY.