Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome

Molecular Cell

Volumn 1, Issue 4, 1998, Pages 575-582

  Kestilä, Marjo ^a   Lenkkeri, Ulla ^a   Männikkö, Minna ^a   Lamerdin, Jane ^c   McCready, Paula ^c   Putaala, Heli ^b   Ruotsalainen, Vesa ^a   Morita, Takako ^b   Nissinen, Marja ^a   Herva, Riitta ^d   Kashtan, Clifford E ^e   Peltonen, Leena ^f   Holmberg, Christer ^g   Olsen, Anne ^c   Tryggvason, Karl ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b KAROLINSKA INSTITUTE   (Sweden)

^c LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^d OULU UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF HELSINKI   (Finland)

^g UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; IMMUNOGLOBULIN; MEMBRANE PROTEIN; MESSENGER RNA; NEPHRIN; PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; COSMID; EXON; FAMILY HEALTH; GENE DELETION; GENE EXPRESSION; GENETICS; GLOMERULUS; HAPLOTYPE; HUMAN; ISOLATION AND PURIFICATION; MOLECULAR CLONING; MOLECULAR GENETICS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PROTEIN TERTIARY STRUCTURE;

AMINO ACID SEQUENCE; CLONING, MOLECULAR; COSMIDS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FAMILY HEALTH; GENE DELETION; GENE EXPRESSION; HAPLOTYPES; HUMANS; IMMUNOGLOBULINS; KIDNEY GLOMERULUS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NEPHROTIC SYNDROME; PROTEIN STRUCTURE, TERTIARY; PROTEINS; RNA, MESSENGER;

EID: 0032015551     PISSN: 10972765     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1097-2765(00)80057-X     Document Type: Article

References (42)

1. Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. (1990). Basic local alignment search tool. J. Mol. Biol. 215, 403-410.
2. Appel, R.D., Bairoch, A., and Hochstrasser, D.F. (1994). A new generation of information retrieval tools for biologists: the example of the ExPASy WWW server. Trends Biochem. Sci. 19, 258-260.
3. Barker, D., Hostikka, S.L., Zhou, J., Chow, L.T., Oliphant, A.R., Gerken, S.C., Gregory, M.C., Skolnick, M.H., Atkin, C.L., and Tryggvason, K. (1990). Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248, 1224-1227.
4. Brümmendott, T., and Rathjen, F.G. (1994). Cell adhesion molecules 1: immunoglobulin superfamily. Prot. Profile 1, 951-1058.
5. Burge, C., and Karlin, S. (1997). Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94.
6. Caulfield, J.P., and Farquhar, M.G. (1978). Loss of anionic sites from the glomerular basement membrane in aminonucleoside nephrosis. Lab. Invest. 39, 505-512.
7. de la Chapelle, A. (1993). Disease gene mapping in isolated human populations: the example of Finland. J. Med. Genet. 30, 857-865.
8. Fahrig, T., Landa, C., Pesheva, P., Kühn, K., and Schacher, M. (1987). Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. EMBO J. 6, 2875-2883.
9. Fuchshuber, A., Niaudet, P., Gribouval, O., Genevieve, J., Gubler, M.-C., Broyer, M., and Antignac, C. (1996). Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr. Nephrol. 10, 135-138.
10. Genetics Computer Group. (1996). Program manual forthe Wisconsin Package, Version 9 (Madison, WI).
11. Hästbacka, J., de la Chapelle, A., Mahtani, M.M., Clines, G., Reeve-Daly, M.P., Daly, M., Hamilton, B.A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994). The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78, 1073-1087.
12. Höglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho-Kere, U., Karjalainen-Lindsberg, M.L., Airola, K., Holmberg, C., de la Chapelle, A., and Kere, J. (1996). Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea. Nat. Genet. 14, 316-319.
13. Holmberg, C., Antikainen, M., Rönnholm, K., Ala-Houhala, M., and Jalanko, H. (1995). Management of congenital nephrotic syndrome of the Finnish type. Pediatr. Nephrol. 9, 87-93.
14. Huttunen, N.P. (1976). Congenital nephrotic syndrome of the Finnish type: study of 75 patients. Arch. Dis. Child. 51, 344-348.
15. Huttunen, N.P., Rapola, J., Vilska, J., and Hallman, N. (1980). Renal pathology in congenital nephrotic syndrome of the Finnish type: a quantitative light microscopic study on 50 patients. Int. J. Pediatr. Nephr. 1, 10-16.
16. Ikonen, E., Baumann, M., Grön, K., Syvänen, A.-C., Enomaa, N., Halila, R., Aula, P., and Peltonen, L. (1991). Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J. 10, 51-58.
17. Jurka, J., Klonowski, P., Dagman, V., and Pelton, P. (1996). CENSOR - a program for identification and elimination of repetitive elements from DNA sequences. Comput. Chem. 20, 119-122.
18. Kanwar, Y.S., and Farquhar, M.G. (1979). Presence of heparan sulfate in the glomerular basement membrane. Proc. Natl. Acad. Sci. USA 76, 1303-1307.
19. Kasinath, B.S., and Kanwar, Y.S. (1993). Glomerular basement membrane: biology and physiology. In Molecular and Cellular Aspects of Basement Membranes, D. Rorhbach and R. Timpl, eds. (San Diego: Academic Press), pp. 89-106.
20. Kawai, S., Nomura, S., Harano, T., Fukushima, T., and Osawa, G. (1996). The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. Kidney Int. 49, 814-822.
21. Keino-Masu, K., Masu, M., Hinck, L., Leonardo, E.D., Chan, S.S.Y., Culotti, J.G., and Tessier-Lavigne, M. (1996). Deleted in Colorectal Cancer (DCC) encodes a netrin receptor. Cell 87, 175-185.
22. Kestilä, M., Männikkö, M., Holmberg, C., Korpela, K., Savolainen, E.R., Peltonen, L., and Tryggvason, K. (1994a). Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type. Kidney Int. 45, 986-990.
23. Kestilä, M., Männikkö, M., Holmberg, C., Gyapay, G., Weissenbach, J., Savolainen, E.R., Peltonen, L., and Tryggvason, K. (1994b).Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am. J. Hum. Genet. 54, 757-764.
24. Knebelmann, B., Breillat, C., Forestier, L., Arrondel, C., Jacassier, D., et al. (1996). Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am. J. Hum. Genet. 59, 1221-1232.
25. Koskimies, O. (1990). Genetics of congenital and early infantile nephrotic syndromes. In Inheritance of Kidney and Urinary Tract Diseases, A. Spitzer, and E.D. Avner, eds. (Boston: Kluwer Academic Publishers), pp. 131-138.
26. Laine, J., Jalanko, H., Holthöfer, H., Krogerus, L., Rapola, J., von Willebrand, E., Lautenschlager, I., Salmela, K., and Holmberg, C. (1993). Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int. 44, 867-874.
27. Lenkkeri, U., Kestilä, M., Lamerdin, J., McCready, P., Adamson, A., Olsen, A., and Tryggvason, K. (1998). Structure of the human amyloid precursor like protein gene APLP1 at 19q13.1. Hum. Genet. 102, 192-196.
28. Ljungberg, P., Jalanko, H., Holmberg, C., and Holthöfer, H. (1993). Congenital nephrosis of the Finnish type (NPHS1): matrix components of the glomerular basement membranes and of cultured mesangial cells. Histochem. J. 25, 606-612.
29. Mahan, J.D., Mauer, S.M., Sibley, R.K., and Vernier, R.L. (1984). Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation. J. Pediatr. 105, 549-557.
30. Männikkö, M., Kestilä, M., Holmberg, C., Norio, R., Ryynänen, M., Olsen, A., Peltonen, L., and Tryggvason, K. (1995). Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am. J. Hum. Genet. 57, 1377-1383.
31. Männikkö, M., Kestilä, M., Lenkkeri, U., Alakurtti, H., Holmberg, C., Leisti, J., Salonen, R., Aula, P., Mustonen, A., Peltonen, L., and Tryggvason, K. (1997). Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis, Kidney Int. 51, 868-872.
32. Norio, R. (1966). Heredity on the congenital nephrotic syndrome. Ann. Paediatr. Fenn. 12 (Suppl. 27), 1-94.
33. Olsen, A., Georgescu, A., Johnson, S., and Carrano, A.V. (1996). Assembly of a 1-Mb restriction-mapped cosmid contig spanning the candidate region for Finnish congenital nephrosis (NPHS1) in 19q13.1. Genomics 34, 223-225.
34. Pesheva, P., Gennarini, G., Goridis, C., and Schacher, M. (1993). The F3/11 cell adhesion molecule mediates the repulsion of neurons by the extracellular matrix glycoprotein J1-160/180. Neuron 10, 69-82.
35. Rapola, J., Huttunen, N.P., and Hallman, N. (1992). Congenital and infantile nephrotic syndrome. In Pediatric Kidney Disease, Second Edition, C.M. Edelman, ed. (Boston: Little, Brown and Company), 1291-1305.
36. Renieri, A., Bruttini, M., Galli, L., Zanelli, P., Neri, T., et al. (1996). X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am. J. Hum. Genet. 58, 1192-1204.
37. Solovyev, V.V., Salamov, A.A., and Lawrence, C.B. (1994). Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames. Nucleic Acids Res. 22, 5156-5163.
38. Tryggvason, K. (1996). Mutations in type IV collagen genes in Alport syndrome. In Molecular Pathology and Genetics of Alport Syndrome, ed. K. Tryggvason (Basel: Karger).
39. Tryggvason, K., and Kouvalainen, K. (1975). Number of nephrons in normal human kidneys and kidneys of patients with the congenital nephrotic syndrome. Nephron 15, 62-68.
40. Uberbacher, E.C., and Mural, R.J. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88, 11261-11265.
41. Vesa, J., Hellsten, E., Verkruyse, L.A., Camp, L.A., Rapola, J., Santavuori, P., Hofman, S.L., and Peltonen, L. (1995). Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis, Nature 376 584-587.
42. Zisch, A.M., D'Allessandri, L., Ranscht, B., Falchetto, R., Winterhalter, K.H., and Vaughan, L. (1992). Neuronal cell adhesion molecule contactin/F11 binds to tenascin via its immunoglobulin-like domains. J. Cell Biol. 119, 203-213.