The pathogenesis of autosomal dominant polycystic kidney disease

Nephron - Experimental Nephrology

Volumn 103, Issue 4, 2006, Pages

  Sutters, Michael ^a  

^a JOHNS HOPKINS BAYVIEW MEDICAL CENTER   (United States)

Author keywords

Autosomal dominant polycystic kidney disease; Cell calcium; Cell differentiation; Polycystin 1; Polycystin 2

Indexed keywords

CALCIUM ION; POLYCYSTIN;

AUTOSOMAL DOMINANT DISORDER; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CELL DIFFERENTIATION; CYTOGENETICS; CYTOLOGY; EUKARYOTIC FLAGELLUM; HUMAN; KIDNEY POLYCYSTIC DISEASE; MOLECULAR GENETICS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT SURVEY; SIGNAL TRANSDUCTION;

CALCIUM; CILIA; DNA DAMAGE; HUMANS; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; SIGNAL TRANSDUCTION; TRPP CATION CHANNELS;

EID: 33746336540     PISSN: 16602129     EISSN: None     Source Type: Journal    
DOI: 10.1159/000093216     Document Type: Short Survey

References (37)

1. The European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994;77:881-894.
2. Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-1342.
3. Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P: Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 68:355-363.
4. Moy G, Mendoza L, Schulz J, Swanson W, Glabe C, Vacquier V: 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 1996;133:809-817.
5. Qian F, Boletta A, Bhunia AK, Xu H, Liu L, Ahrabi AK, Watnick TJ, Zhou F, Germino GG: Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc Natl Acad Sci USA 2002;99:16981-16986.
6. Parnell SC, Magenheimer BS, Maser RL, Rankin CA, Smine A, Okamoto T, Calvet JP: The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. Biochem Biophys Res Commun 1998;251:625-631.
7. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG: PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 1997;16:179-183.
8. Huang CL: The transient receptor potential superfamily of ion channels. J Am Soc Nephrol 2004;15:1690-1699.
9. 2+-permeable nonselective cation channel. Proc Natl Acad Sci USA 2001;98:1182-1187.
10. Koulen P, Cai Y, Geng L, Maeda Y, Nishimura S, Witzgall R, Ehrlich BE, Somlo S: Polycystin-2 is an intracellular calcium release channel. Nat Cell Biol 2002;3:191-197.
11. Yoder BK, Hou X, Guay-Woodford LM: The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 2002;13:2508-2516.
12. Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG: Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature 2000;408:990-994.
13. Jurczyk A, Gromley A, Redick S, Agustin JS, Witman G, Pazour GJ, Peters DJM, Doxsey S: Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol 2004;166:637-643.
14. Grimm DH, Cai Y, Chauvet V, Rajendran V, Zeltner R, Geng L, Avner ED, Sweeney W, Somlo S, Caplan MJ: Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. J Biol Chem 2003;278:36786-36793.
15. Kottgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Hopker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G: Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J 2005;24:705-716.
16. Qian F, Watnick T, Onuchic LF, Germino GG: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 1996;87:979-987.
17. Nishio S, Hatano M, Nagata M, Horie S, Koike T, Tokuhisa T, Mochizuki T: Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation. J Clin Invest 2005;115:910-918.
18. Wu G, Tian X, Nishimura S, Markowitz GS, D'Agati V, Hoon Park J, Yao L, Li L, Geng L, Zhao H, Edelmann W, Somlo S: Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum Mol Genet 2002;11:1845-1854.
19. Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, DeRuiter MC, Breuning MH, de Heer E, Peters DJM: Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet 2004;13:3069-3077.
20. Barr MM, DeModena J, Braun D, Nguyen CQ, Hall DH, Sternberg PW: The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. Curr Biol 2001;11:1341-1346.
21. Calvet JP: Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation? Kidney Int 1993;43:101-108.
22. Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK: Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol Biol Cell 2001;12:589-599.
23. Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, Whelan S, Bacallao R, Torra R, LaRusso NF, Torres VE, Harris PC: Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet 2003;12:2703-2710.
24. Nauli S, Alenghat F, Luo Y, Williams E, Vassilev P, Li X, Elia A, Lu W, Brown E, Quinn S, Ingber D, Zhou J: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003;33:129-137.
25. Pazour GJ, Agrin N, Leszyk J, Witman GB: Proteomic analysis of a eukaryotic cilium. J Cell Biol 2005;170:103-113.
26. Huangfu D, Anderson KV: From the cover: cilia and hedgehog responsiveness in the mouse. Proc Natl Acad Sci USA 2005;102:11325-11330.
27. Xu GM, Gonzalez-Perrett S, Essafi M, Timpanaro GA, Montalbetti N, Arnaout MA, Cantiello HF: Polycystin-1 activates and stabilizes the polycystin-2 channel. J Biol Chem 2003;278:1457-1462.
28. Delmas P, Padilla F, Osorio N, Coste B, Raoux M, Crest M: Polycystins, calcium signaling, and human diseases. Biochem Biophys Res Commun 2004;322:1374-1383.
29. Hooper K, Boletta A, Germino G, Hu Q, Ziegelstein R, Sutters M: Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells. Am J Physiol Renal Physiol 2005;289:F521-F530.
30. 2+ entry. Am J Physiol Renal Physiol 2003;285:F1168-F1178.
31. 2+-dependent pathway(s). Exp Cell Res 2005;304:391-406.
32. Puri S, Magenheimer BS, Maser RL, Ryan EM, Zien CA, Walker DD, Wallace DP, Hempson SJ, Calvet JP: Polycystin-1 activates the calcineurin/NFAT (nuclear factor of activated T-cells) signaling pathway. J Biol Chem 2004;279:55455- 55464.
33. Sutters M, Yamaguchi T, Maser RL, Magenheimer BS, St. John PL, Abrahamson DR, Grantham JJ, Calvet JP: Polycystin-1 transforms the cAMP growth-responsive phenotype of M-1 cells. Kidney Int 2001;60:484-494.
34. Yamaguchi T, Wallace DP, Magenheimer BS, Hempson SJ, Grantham JJ, Calvet JP: Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J Biol Chem 2004;279:40419-40430.
35. Arnould T, Sellin L, Benzing T, Tsiokas L, Cohen HT, Kim E, Walz G: Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2. Mol Cell Biol 1999;19:3423-3434.
36. Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Genuine GG: PKD1 induces p21 (WAF1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 2002;109:157-168.
37. Delmas P, Nauli SM, Li X, Coste B, Osorio N, Crest M, Brown DA, Zhou J: Gating of the polycystin ion channel signaling complex in neurons and kidney cells. FASEB J 2004;18:740-742.