Nephrin - a unique structural and signaling protein of the kidney filter

Trends in Molecular Medicine

Volumn 13, Issue 9, 2007, Pages 396-403

  Patrakka, Jaakko ^a   Tryggvason, Karl ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; CD2 ASSOCIATED PROTEIN; NEPHRIN; PODOCIN;

ACTIN POLYMERIZATION; GLOMERULUS FILTRATION; HUMAN; KIDNEY DISEASE; KIDNEY FUNCTION; NEPHROTIC SYNDROME; NONHUMAN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; PROTEINURIA; REVIEW;

ANIMALS; GLOMERULAR FILTRATION RATE; HUMANS; KIDNEY; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; NEPHROTIC SYNDROME; PODOCYTES; SIGNAL TRANSDUCTION;

EID: 34548526982     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2007.06.006     Document Type: Review

References (85)

1. Tryggvason K., et al. Hereditary proteinuria syndromes and mechanisms of proteinuria. N. Engl. J. Med. 354 (2006) 1387-1401
2. Ballermann B.J. Glomerular endothelial cell differentiation. Kidney Int. 67 (2005) 1668-1671
3. Avasthi P.S., and Koshy V. Glomerular endothelial glycocalyx. Contrib. Nephrol. 68 (1988) 104-113
4. Hudson B.G., et al. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N. Engl. J. Med. 348 (2003) 2543-2556
5. Zenker M., et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum. Mol. Genet. 13 (2004) 2625-2632
6. Noakes P.G., et al. The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. Nat. Genet. 10 (1995) 400-406
7. Kanwar Y.S., et al. Increased permeability of the glomerular basement membrane to ferritin after removal of glycosaminoglycans (heparan sulfate) by enzyme digestion. J. Cell Biol. 86 (1980) 688-693
8. Harvey S.J., et al. Disruption of glomerular basement membrane charge through podocyte-specific mutation of agrin does not alter glomerular permselectivity. Am. J. Pathol. 171 (2007) 139-152
9. Rossi M., et al. Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney. EMBO J. 22 (2003) 236-245
10. Doyonnas R., et al. Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin. J. Exp. Med. 194 (2001) 13-27
11. Asanuma K., et al. Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J. Clin. Invest. 115 (2005) 1188-1198
12. Kos C.H., et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J. Clin. Invest. 111 (2003) 1683-1690
13. Kaplan J.M., et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24 (2000) 251-256
14. Michaud J.L., et al. Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4. J. Am. Soc. Nephrol. 14 (2003) 1200-1211
15. Rodewald R., and Karnovsky M.J. Porous substructure of the glomerular slit diaphragm in the rat and mouse. J. Cell Biol. 60 (1974) 423-433
16. Kestila M., et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol. Cell 1 (1998) 575-582
17. Ruotsalainen V., et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 7962-7967
18. Tryggvason K. Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm. J. Am. Soc. Nephrol. 10 (1999) 2440-2445
19. Wartiovaara J., et al. Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. J. Clin. Invest. 114 (2004) 1475-1483
20. Khoshnoodi J., et al. Nephrin promotes cell-cell adhesion through homophilic interactions. Am. J. Pathol. 163 (2003) 2337-2346
21. Khoshnoodi J., et al. Identification of N-linked glycosylation sites in human nephrin using mass spectrometry. J. Mass Spectrom. 42 (2007) 370-379
22. Yan K., et al. N-linked glycosylation is critical for the plasma membrane localization of nephrin. J. Am. Soc. Nephrol. 13 (2002) 1385-1389
23. Huber T.B., et al. The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1. J. Biol. Chem. 278 (2003) 13417-13421
24. Barletta G.M., et al. Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers. J. Biol. Chem. 278 (2003) 19266-19271
25. Gerke P., et al. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. J. Am. Soc. Nephrol. 14 (2003) 918-926
26. Dworak H.A., et al. Characterization of Drosophila hibris, a gene related to human nephrin. Development 128 (2001) 4265-4276
27. Strunkelnberg M., et al. rst and its paralogue kirre act redundantly during embryonic muscle development in Drosophila. Development 128 (2001) 4229-4239
28. Liu G., et al. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J. Clin. Invest. 112 (2003) 209-221
29. Donoviel D.B., et al. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. Mol. Cell. Biol. 21 (2001) 4829-4836
30. Inoue T., et al. FAT is a component of glomerular slit diaphragms. Kidney Int. 59 (2001) 1003-1012
31. Ciani L., et al. Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype. Mol. Cell. Biol. 23 (2003) 3575-3582
32. Reiser J., et al. The glomerular slit diaphragm is a modified adherens junction. J. Am. Soc. Nephrol. 11 (2000) 1-8
33. Radice G.L., et al. Precocious mammary gland development in P-cadherin-deficient mice. J. Cell Biol. 139 (1997) 1025-1032
34. Putaala H., et al. Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene. J. Am. Soc. Nephrol. 11 (2000) 991-1001
35. Jones N., et al. Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature 440 (2006) 818-823
36. Verma R., et al. Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization. J. Clin. Invest. 116 (2006) 1346-1359
37. Shih N.Y., et al. CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. Am. J. Pathol. 159 (2001) 2303-2308
38. Hutchings N.J., et al. Linking the cell surface protein CD2 to the actin-capping protein CAPZ via CMS and CIN85. J. Biol. Chem. 278 (2003) 21805-21813
39. Shih N.Y., et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286 (1999) 312-315
40. Kim J.M., et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300 (2003) 1298-1300
41. Boute N., et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24 (2000) 349-354
42. Schwarz K., et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108 (2001) 1621-1629
43. Huber T.B., et al. Interaction with podocin facilitates nephrin signaling. J. Biol. Chem. 276 (2001) 41543-41546
44. Huber T.B., et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum. Mol. Genet. 12 (2003) 3397-3405
45. Roselli S., et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol. Cell. Biol. 24 (2004) 550-560
46. Liu X.L., et al. Characterization of the interactions of the nephrin intracellular domain. FEBS J. 272 (2005) 228-243
47. Lehtonen S., et al. Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 9814-9819
48. Schnabel E., et al. The tight junction protein ZO-1 is concentrated along slit diaphragms of the glomerular epithelium. J. Cell Biol. 111 (1990) 1255-1263
49. Ahola H., et al. A novel protein, densin, expressed by glomerular podocytes. J. Am. Soc. Nephrol. 14 (2003) 1731-1737
50. Hirabayashi S., et al. MAGI-1 is a component of the glomerular slit diaphragm that is tightly associated with nephrin. Lab. Invest. 85 (2005) 1528-1543
51. Quack I., et al. beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 14110-14115
52. Putaala H., et al. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum. Mol. Genet. 10 (2001) 1-8
53. Liu L., et al. Nephrin is an important component of the barrier system in the testis. Acta Med. Okayama 55 (2001) 161-165
54. Astrom E., et al. Nephrin in human lymphoid tissues. Cell. Mol. Life Sci. 63 (2006) 498-504
55. Palmen T., et al. Nephrin is expressed in the pancreatic beta cells. Diabetologia 44 (2001) 1274-1280
56. Zanone M.M., et al. Expression of nephrin by human pancreatic islet endothelial cells. Diabetologia 48 (2005) 1789-1797
57. Kuusniemi A.M., et al. Tissue expression of nephrin in human and pig. Pediatr. Res. 55 (2004) 774-781
58. Patrakka J., et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 58 (2000) 972-980
59. Holmberg C., et al. Management of congenital nephrotic syndrome of the Finnish type. Pediatr. Nephrol. 9 (1995) 87-93
60. Koziell A., et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet. 11 (2002) 379-388
61. Wong M.A., et al. Identification and characterization of a glomerular-specific promoter from the human nephrin gene. Am. J. Physiol. Renal Physiol. 279 (2000) F1027-F1032
62. Moeller M.J., et al. Evaluation of a new tool for exploring podocyte biology: mouse Nphs1 5′ flanking region drives LacZ expression in podocytes. J. Am. Soc. Nephrol. 11 (2000) 2306-2314
63. Eremina V., et al. Glomerular-specific gene excision in vivo. J. Am. Soc. Nephrol. 13 (2002) 788-793
64. Beltcheva O., et al. Alternatively used promoters and distinct elements direct tissue-specific expression of nephrin. J. Am. Soc. Nephrol. 14 (2003) 352-358
65. Wagner N., et al. The major podocyte protein nephrin is transcriptionally activated by the Wilms' tumor suppressor WT1. J. Am. Soc. Nephrol. 15 (2004) 3044-3051
66. Guo G., et al. WT1 activates a glomerular-specific enhancer identified from the human nephrin gene. J. Am. Soc. Nephrol. 15 (2004) 2851-2856
67. Beltcheva O., et al. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum. Mutat. 17 (2001) 368-373
68. Liu L., et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum. Mol. Genet. 10 (2001) 2637-2644
69. Liu X.L., et al. Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. J. Am. Soc. Nephrol. 15 (2004) 1731-1738
70. Patrakka J., et al. Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. Transplantation 73 (2002) 394-403
71. Patrakka J., et al. Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 359 (2002) 1575-1577
72. Rantanen M., et al. Nephrin TRAP mice lack slit diaphragms and show fibrotic glomeruli and cystic tubular lesions. J. Am. Soc. Nephrol. 13 (2002) 1586-1594
73. Lahdenkari A.T., et al. Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?. Pediatr. Nephrol. 20 (2005) 1073-1080
74. Lahdenkari A.T., et al. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int. 65 (2004) 1856-1863
75. Pettersson-Fernholm K., et al. Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients. Kidney Int. 63 (2003) 1205-1210
76. Narita I., et al. Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy. Lab. Invest. 83 (2003) 1193-1200
77. Doublier S., et al. Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome. Am. J. Pathol. 158 (2001) 1723-1731
78. Doublier S., et al. Nephrin expression is reduced in human diabetic nephropathy: evidence for a distinct role for glycated albumin and angiotensin II. Diabetes 52 (2003) 1023-1030
79. Furness P.N., et al. Glomerular expression of nephrin is decreased in acquired human nephrotic syndrome. Nephrol. Dial. Transplant. 14 (1999) 1234-1237
80. Koop K., et al. Expression of podocyte-associated molecules in acquired human kidney diseases. J. Am. Soc. Nephrol. 14 (2003) 2063-2071
81. Hingorani S.R., et al. Expression of nephrin in acquired forms of nephrotic syndrome in childhood. Pediatr. Nephrol. 19 (2004) 300-305
82. Patrakka J., et al. Expression of nephrin in pediatric kidney diseases. J. Am. Soc. Nephrol. 12 (2001) 289-296
83. Rubenstein R.C., et al. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J. Clin. Invest. 100 (1997) 2457-2465
84. Robben J.H., et al. Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism. Mol. Biol. Cell 17 (2006) 379-386
85. Tryggvason K., et al. Nck links nephrin to actin in kidney podocytes. Cell 125 (2006) 221-224