Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome

Gene Expression

Volumn 13, Issue 1, 2005, Pages 59-66

  Oleggini, Roberta ^a   Bertelli, Roberta ^a   Di Donato, Armando ^a   Di Duca, Marco ^a   Caridi, Gianluca ^a   Sanna Cherchi, Simone ^b   Scolari, Francesco ^c   Murer, Luisa ^d   Allegri, Landino ^b   Coppo, Rosanna ^e   Emma, Francesco ^f   Camussi, Giovanni ^g   Perfumo, Francesco ^a   Ghiggeri, Gian Marco ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c SPEDALI CIVILI   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF TURIN   (Italy)

Author keywords

Focal segmental glomerulosclerosis; Nephrotic syndrome; NPHS2 gene; NPHS2 promoter; Podocin; Proteinuria; USF1

Indexed keywords

IMMUNOMODULATING AGENT; LUCIFERASE; PODOCIN; STEROID; TRANSCRIPTION FACTOR; UPSTREAM STIMULATORY FACTOR 1;

ADULT; ANIMAL CELL; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; GLOMERULUS; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NEPHROTIC SYNDROME; NONHUMAN; OUTCOME ASSESSMENT; PROMOTER REGION; PROTEIN SYNTHESIS; PROTEINURIA; REGULATORY MECHANISM; SEQUENCE HOMOLOGY; WILD TYPE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUCIFERASES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEPHROTIC SYNDROME; PROMOTER REGIONS (GENETICS); PROTEINURIA; UPSTREAM STIMULATORY FACTORS;

ANIMALIA;

EID: 33645232965     PISSN: 10522166     EISSN: None     Source Type: Journal    
DOI: 10.3727/000000006783991926     Document Type: Article

References (32)

1. Boute, N.; Gribouval, O.; Roselli, S.; Benessy, F.; Lee, H.; Fuchshuber, A.; Dahan, K.; Gubler, M. C.; Niaudet, P.; Antignac, C. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24:349-354; 2000.
2. Braden, G. L.; Mulhern, J. G.; O'Shea, M. H.; Nash, S. V.; Ucci, Jr., A. A.; Germain, M. J. Changing incidence of glomerular diseases in adults. Am. J. Kidney Dis. 35:878-883; 2000.
3. Caridi, G.; Bertelli, R.; Carrea, A.; Di Duca, M.; Catarsi, P.; Artero, M.; Carraro, M.; Zennaro, C.; Candiano, G.; Musante, L.; Seri, M.; Ginevri, F.; Perfumo, F.; Ghiggeri, G. M. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 12:2742-2746; 2001.
4. Caridi, G.; Bertelli, R.; Di Duca, M.; Dagnino, M.; Emma, F.; Onetti Muda, A.; Scolari, F.; Miglietti, N.; Mazzucco, G.; Murer, L.; Carrea, A.; Massella, L.; Rizzoni, G.; Perfumo, F.; Ghiggeri, G. M. Broadening the spectrum of diseases related to podocin mutations. J. Am. Soc. Nephrol. 14:1278-1286; 2003.
5. Caridi, G.; Bertelli, R.; Scolari, F.; Sanna-Cherchi, S.; Di Duca, M.; Ghiggeri, G. M. Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. Kidney Int. 64:365; 2003.
6. Conaldi, P. G.; Biancone, L.; Bottelli, A.; De Martino, A.; Camussi, G.; Toniolo, A. Distinct pathogenic effects of group B coxsackieviruses on human glomerular and tubular kidney cells. J. Virol. 71:9180-9187; 1997.
7. Conaldi, P. G.; Biancone, L.; Bottelli, A.; Wade-Evans, A.; Racusen, L. C.; Boccellino, M.; Orlandi, V.; Serra, C.; Camussi, G.; Toniolo, A. HIV-1 kills renal tubular epithelial cells in vitro by triggering an apoptotic pathway involving caspase activation and Fas upregulation. J. Clin. Invest. 102:2041-2049; 1998.
8. Doublier, S.; Ruotsalainen, V.; Salvidio, G.; Lupia, E.; Biancone, L.; Conaldi, P. G.; Reponen, P.; Tryggvason, K.; Camussi, G. Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome. Am. J. Pathol. 158:1723-1731; 2001.
9. Doublier, S.; Salvidio, G.; Lupia, E.; Ruotsalainen, V.; Verzola, D.; Deferrari, G.; Camussi, G. Nephrin expression is reduced in human diabetic nephropathy: Evidence for a distinct role for glycated albumin and angiotensin II. Diabetes. 52:1023-1030; 2003.
10. Ghiggeri, G. M.; Artero, M.; Carraro, M.; Perfumo, F. Permeability plasma factors in nephrotic syndrome: More than one factor, more than one inhibitor. Nephrol. Dial. Transplant. 16:882-885; 2001.
11. Ghiggeri, G. M.; Carraro, M.; Vincenti, F. Recurrent focal glomerulosclerosis in the era of genetics of podocyte proteins: Theory and therapy. Nephrol. Dial. Transplant. 19:1036-1040; 2004.
12. Giampuzzi, M.; Botti, G.; Di Duca, M.; Arata, L.; Ghiggeri, G.; Gusmano, R.; Ravazzolo, R.; Di Donato, A. Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen. J. Biol. Chem. 275:36341-36349; 2000.
13. Huber, T. B.; Kottgen, M.; Schilling, B.; Walz, G.; Benzing, T. Interaction with podocin facilitates nephrin signaling. J. Biol. Chem. 276:41543-41546; 2001.
14. Huber, T. B.; Simons, M.; Hartleben, B.; Sernetz, L.; Schmidts, M.; Gundlach, E.; Saleem, M. A.; Walz, G.; Benzing, T. Molecular basis of the functional podocin-nephrin complex: Mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum. Mol. Genet. 12:3397-3405; 2003.
15. Inoue, T.; Yaoita, E.; Kurihara, H.; Shimizu, F.; Sakai, T.; Kobayashi, T.; Ohshiro, K.; Kawachi, H.; Okada, H.; Suzuki, H.; Kihara, I.; Yamamoto, T. FAT is a component of glomerular slit diaphragms. Kidney Int. 59:1003-1012; 2001.
16. International Study of Kidney Disease in Children. Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. Kidney Int. 20:765-771; 1981.
17. International Study of Kidney Disease in Children. Prospective, controlled trial of cyclophosphamide therapy in children with nephrotic syndrome. Lancet 2: 423-427; 1974.
18. Karle, S. M.; Uetz, B.; Ronner, V.; Glaeser, L.; Hildebrandt, F.; Fuchshuber, A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 13:388-393; 2002.
19. Koop, K.; Eikmans, M.; Baelde, H. J.; Kawachi, H.; De Heer, E.; Paul, L. C.; Bruijn, J. A. Expression of podocyte-associated molecules in acquired human kidney diseases. J. Am. Soc. Nephrol. 14:2063-2071; 2003.
20. Luimula, P.; Sandstrom, N.; Novikov, D.; Holthofer, H. Podocyte-associated molecules in puromycin aminonucleoside nephrosis of the rat. Lab. Invest. 82:713-718; 2002.
21. Moeller, M. J.; Sanden, S. K.; Soofi, A.; Wiggins, R. C.; Holzman, L. B. Podocyte-specific expression of ere recombinase in transgenic mice. Genesis 35:39-42; 2003.
22. Moeller, M. J.; Sanden, S. K.; Soofi, A.; Wiggins, R. C.; Holzman, L. B. Two gene fragments that direct podocyte-specific expression in transgenic mice. J. Am. Soc. Nephrol. 13:1561-1567; 2002.
23. Reiser, J.; Kriz, W.; Kretzler, M.; Mundel, P. The glomerular slit diaphragm is a modified adherens junction. J. Am. Soc. Nephrol. 11:1-8; 2000.
24. Rohr, C.; Prestel, J.; Heidet, L.; Hosser, H.; Kriz, W.; Johnson, R. L.; Antignac, C.; Witzgall, R. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J. Clin. Invest. 109:1073-1082; 2002.
25. Roselli, S.; Gribouval, O.; Boute, N.; Sich, M.; Benessy, F.; Attie, T.; Gubler, M. C.; Antignac, C. Podocin localizes in the kidney to the slit diaphragm area. Am. J. Pathol. 160:131-139; 2002.
26. Roselli, S.; Heidet, L.; Sich, M.; Henger, A.; Kretzler, M.; Gubler, M. C.; Antignac, C. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol. Cell. Biol. 24:550-560; 2004.
27. Ruf, R. G.; Lichtenberger, A.; Karle, S. M.; Haas, J. P.; Anacleto, F. E.; Schultheiss, M.; Zalewski, I.; Imm, A.; Ruf, E. M.; Mucha, B.; Bagga, A.; Neuhaus, T.; Fuchshuber, A.; Bakkaloglu, A.; Hildebrandt, F. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J. Am. Soc. Nephrol. 15:722-732; 2004.
28. Ruotsalainen, V.; Ljungberg, P.; Wartiovaara, J.; Lenkkeri, U.; Kestila, M.; Jalanko, H.; Holmberg, C.; Tryggvason, K. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc. Natl. Acad. Sci. USA 96:7962-7967; 1999.
29. Schmid, H.; Henger, A.; Cohen, C. D.; Frach, K.; Grone, H. J.; Schlondorff, D.; Kretzler, M. Gene expression profiles of podocyte-associated molecules as diagnostic markers in acquired proteinuric diseases. J. Am. Soc. Nephrol. 14:2958-2966; 2003.
30. Schwarz, K.; Simons, M.; Reiser, J.; Saleem, M. A.; Faul, C.; Kriz, W.; Shaw, A. S.; Holzman, L. B.; Mundel, P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108:1621-1629; 2001.
31. Sharples, P. M.; Poulton, J.; White, R. H. Steroid responsive nephrotic syndrome is more common in Asians. Arch. Dis. Child. 60:1014-1017; 1985.
32. Weber, S.; Gribouval, O.; Esquivel, E. L.; Moriniere, V.; Tete, M. J.; Legendre, C.; Niaudet, P.; Antignac, C. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 66:571-579; 2004.