Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

Kidney International

Volumn 47, Issue 4, 1995, Pages 1142-1147

  Gubler, Marie Claire ^a   Knebelmann, Bertrand ^b   Beziau, Agnès ^b   Broyer, Michel ^b   Pirson, Yves ^b   Haddoum, Farid ^b   Kleppel, Mary M ^b   Antignac, Corinne ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL;

EID: 0028939722     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1038/ki.1995.163     Document Type: Article

References (31)

1. ALPORT AC: Hereditary familial congenital haemorrhagic nephritis. Brit Med J (Clin Res) 1:504-506, 1927
2. ATKIN CL, GREGORY MC, BORDER WA: Alport syndrome, in Diseases of the Kidney, edited by SCHRIER RW, GOTTSCHALK CW, Boston, Little Brown, 1988, pp. 617-641
3. GUBLER MC, LEVY M, BROYER M, NAIZOT C, GONZALES G, PERRIN D, HABIB R: Alport's syndrome: A report of 58 cases and a review of the literature. Am J Med 70:493-505, 1981
4. GUBLER MC, ANTIGNAC C, DESCHENES G, KNEBELMANN B, HORSCAYLA MC, GRÜNFELD JP, BROYER M, HABIB R: Genetic, clinical and morphologic heterogeneity in Alport syndrome. Adv Nephrol 22:15-35, 1993
5. FLINTER FA, CAMERON JS, CHANTLER C, HOUSTON I, BOBROW M: Genetics of classic Alport's syndrome. Lancet 2:1005-1007, 1988
6. ATKIN CL, HASSTEDT SJ, MENLOVE L, CANNON L, KIRSCHNER N, SCHWARTZ C, NGUYEN K, SKOLNICK MH: Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 42:249-255, 1988
7. HOSTIKKA SL, EDDY RL, BYERS MG, HOYHTYA M, SHOWS TB, TRYGGVASON K: Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of its gene to the locus of X-linked Alport syndrome. Proc Natl Acad Sci USA 87:1606-1610, 1990
8. BARKER DF, HOSTIKKA SL, ZHOU J, CHOW LT, OLIPHANT AR, GERKEN SC, GREGORY MC, SKOLNICK MH, ATKIN CL, TRYGGVASON K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 247:1224-1227, 1990
9. TRYGGVASON K, ZHOU J, HOSTIKKA SL, SHOWS TB: Molecular genetics of Alport syndrome. Kidney Int 43:38-44, 1993
10. ANTIGNAC C, KNEBELMANN B, DROUOT L, GROS F, DESCHENES G, HORS-CAYLA MC, ZHOU J, TRYGGVASON K, GRÜNFELD JP, BROYER M, GUBLER MC: Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 93:1195-1207, 1994
11. FEINGOLD J, BOIS E, CHOMPRET A, BROYER M, GUBLER MC, GRÜNFELD JP: Genetic heterogenerity of Alport syndrome. Kidney Int 27:672-677, 1985
12. KNEBELMANN B, BENESSY F, BUEMI M, GRÜNFELD JP, GUBLER MC, ANTIGNAC C: Autosomal recessive inheritance in Alport syndrome, (abstract) J Am Soc Nephrol 4:263, 1993
13. MORRISON KE, MARIYAMA M, YANG-FENG TL, REEDERS ST: Sequence and localization of a partial cDNA encoding the human alpha3 chain of type IV collagen. Am J Hum Genet 49:545-554, 1991
14. MARIYAMA M, ZHENG K, YANG-FENG TL, REEDERS ST: Colocalization of the genes for the α3(IV) and α4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 13:809-813, 1992
15. MOCHIZUKI T, LEMMINK HH, MARIYAMA M, ANTIGNAC C, GUBLER MC, PIRSON Y, VERELLEN-DUMOULIN C, CHAN B, SCHRÖDER CH, SMEETS HJ, REEDERS ST: Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet (in press)
16. DING J, KASHTAN CE, FAN WW, KLEPPEL MM, SUN MJ, KALLURI R, NEILSON EG, MICHAEL AF: A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen. Kidney Int 46:1504-1506, 1994
17. MOUNIER F, GROS F, WIESLANDER J, HINGLAIS N, SICH M, GUICHARNAUD L, GUBLER MC: Glomerular distribution of M1 and M2 subunits of the globular domain of the basement membrane collagen. An immunohistochemical study, in Progress in Basement Membranes Research. Renal and Related Aspects in Health and Disease, edited by GUBLER MC, STERNBERG M, London, Paris, John Libbey Eurotext, 1988, pp 53-59
18. DESJARDINS M, GROS F, WIESLANDER J, GUBLER MC, BENDAYAN M: Heterogeneous distribution of monomeric elements from the globular domain (NC1) of type IV collagen in renal basement as revealed by high resolution quantitative immuno-histochemistry. Lab Invest 63: 637-646, 1990
19. BUTKOWSKI RJ, WIESLANDER J, KLEPPEL MM, MICHAEL AF: Basement membrane collagen in the kidney: Regional localization of novel chains related to collagen IV. Kidney Int 35:1195-1202, 1989
20. KLEPPEL MM, SANTI PA, CAMERON JD, WIESLANDER J, MICHAEL AF: Human tissue distribution of novel basement membrane collagen. Am J Pathol 134:813-825, 1989
21. KLEPPEL MM, KASHTAN C, SANTI PA, WIESLANDER J, MICHAEL AF: Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis. Relationship of familial nephritis and Good-pasture antigens to novel collagen chains and type IV collagen. Lab Invest 61:278-289, 1989
22. KASHTAN C, FISH AJ, KLEPPEL M, YOSHIOKA K, MICHAEL AF: Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest 78:1035-1044, 1986
23. KLEPPEL MM, FAN W, CHEONG HI, KASHTAN CE, MICHAEL AM: Immunochemical studies of the Alport antigen. Kidney Int 41:1629-1637, 1992
24. KLEPPEL M, KASHTAN CE, BUTKOWSKI RJ, FISH AJ, MICHAEL AF: Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 80:263-266, 1987
25. YOSHIOKA K, HINO S, TAKEMURA T, MAKI S, WIESLANDER J, TAKEKOSHI Y, MAKING H, KAGAWA M, SADO Y, KASHTAN CE: Type IV collagen α5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 144:986-996, 1994
26. HUDSON BG, REEDERS ST, TRYGGVASON K: Type IV collagen: Structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndrome and diffuse leiomyomatosis. J Biol Chem 268:26033-26036, 1993
27. KLEPPEL MM, FAN WW, CHEONG HI, MICHAEL AF: Evidence for separate networks of classical and novel basement membrane collagen. Characterization of α3(IV)-Alport antigen heterodimer. J Biol Chem 267:4137-4142, 1992
28. JOHANSSON C, BUTKOWSKI R, WIESLANDER J: The structural organization of type IV collagen. Identification of three NC1 populations in the glomerular basement membrane. J Biol Chem 267:24533-24537, 1992
29. KASHTAN CE, KLEPPEL MM, BUTKOWSKI RJ, MICHAEL AF, FISH AJ: Alport syndrome, basement membranes and collagen. Pediatr Nephrol 4:523-532, 1990
30. ZHOU J, MOCHIZUKI T, SMEETS H, ANTIGNAC C, LAURILA P, DE PAEPE A, TRYGGVASON K, REEDERS ST: Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors. Science 261:1167-1169, 1993
31. NINOMIYA Y, IYAMA K, KAGAWA M, SUGIMOTO M, OOHASHI T, SADO Y: Differential localization of α6(IV) and α5(IV) collagen chains in basement membranes, in Abstract Book of the XIVth Meeting of the European Connective Tissue Societies, Lyon, 1994, K 18