Mutations in type IV collagen genes and Alport phenotypes

Contributions to Nephrology

Volumn 117, Issue , 1996, Pages 154-171

  Tryggvason, Karl ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN;

AMINO ACID SEQUENCE; ANIMAL; BASEMENT MEMBRANE; ELECTRON MICROSCOPY; GENETICS; GLOMERULUS; HUMAN; METABOLISM; MOLECULAR GENETICS; MUTATION; NEPHRITIS; PATHOLOGY; PHENOTYPE; REVIEW; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; BASEMENT MEMBRANE; COLLAGEN; HUMANS; KIDNEY GLOMERULUS; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; NEPHRITIS, HEREDITARY; PHENOTYPE;

EID: 0029686806     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Review

References (58)

1. Kinoshita Y, Osawa G, Morita T, Kobayashi N, Wada J, Ebe T, Watanabe M, Muronashi K, Muryayama M: Hereditary chronic nephritis (Alport) complicated by nephrotic syndrome. Light, fluorescent and electron microscopic studies of renal biopsy specimens. Acta Med Biol Niigata 1969;17:101-117.
2. Hinglais N, Grünfeld J-P, Bois E: Characteristic ultrastructural lesions of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972;27:473-487.
3. Spear GS, Slusser RJ: Alport's syndrome: Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972;69:213-224.
4. Churg J, Sherman RL: Pathological characteristics of hereditary nephritis. Arch Pathol 1973;95:374-379.
5. Kefalides NA: Isolation of a collagen from basement membranes containing three identical α-chains. Biochem Biophys Res Commun 1971;45:226-234.
6. Spear GS: Alport's syndrome: A consideration of pathogenesis. Clin Nephrol 1973;1:336-337.
7. Pihlajaniemi T, Tryggvason K, Myers J, Kurkinen M, Lebo R, Cheung M, Prockop DJ, Boyd CD: cDNA clones for the pro-α1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain. J Biol Chem 1985;260:7681-7687.
8. Hostikka SL, Kurkinen M, Tryggvason K: Nucleotide sequence coding for the human type IV collagen α2 chain cDNA reveals extensive homology with the NC-1 domain of α1(IV), but not with the collagenous domain or untranslated region. FEBS Lett 1987;216:281-286.
9. Griffin C-A, Emanuel BS, Hansen JR, Cavenee WK, Myers JC: Human collagen genes encoding basement membrane α1(IV) and α2(IV) chains map to the distal long arm of chromosome 13. Proc Natl Acad Sci USA 1987;84:512-516.
10. Butkowski RJ, Langeveld JPM, Wieslander J, Hamilton J, Hudson BG: Localization of the Goodpasture epitope to a novel chain of basement membrane collagen. J Biol Chem 1987;262:7874-7877.
11. Saus J, Wieslander J, Langeveld J, Quinones S, Hudson BG: Identification of the Goodpasture antigen as the α3(IV) chain of collagen IV. J Biol Chem 1988;263:13374-13380.
12. Kleppel MM, Kashtan CE, Butkowski RJ, et al: Alport familial nephritis: Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 1987;80:263-266.
13. Atkin CL, Hasstedt SJ, Menlove L, Cannon L, Kirchner N, Schwartz N, Nguyen K, Skolnick M: Mapping of Alport syndrome to the long arm of the X-ehromosome. Am J Hum Genet 1988;42:249-255.
14. Brunner H, Schröder C, van Bennekom C, Lambermon E, Tuerlings J, Menzel D, Olbing H, Monnens L, Wieringa B, Robers HH: Localization of the gene for X-linked Alport's syndrome. Kidney Int 1988;34:507-510.
15. Flinter FA, Abbs S, Bobrow M: Localization of the gene for classic Alport syndrome. Genomics 1989;4:335-338.
16. Hostikka SL, Eddy RL, Byers MG, Höyhtyä M, Shows TB, Tryggvason K: Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of the gene to the locus of X-chromosome-linked Alport syndrome. Proc Natl Acad Sci USA 1990;87:1606-1610.
17. Pihlajaniemi T, Pohjalainen E-R, Myers J: Complete primary structure of the triple helical region and the carboxy-terminal domain of a new type IV collagen chain α5(IV). J Biol Chem 1990;265:13758-13766.
18. Barker D, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolniek MH, Atkin CL, Tryggvason K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-1227.
19. Zhou J, Barker D, Hostikka SL, Gregory M, Atkin C, Tryggvason K: Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 1991;9:10-18.
20. Mochizyki T, Lemmink H, Mariyama M, Antignac C, Gubler M-C, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder C, Smeets HJM, Reeders ST: Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1992;8:77-82.
21. Kivirikko K, Myllylä R: Recent developments in posttranslational modification: Intracellular processing. Methods Enzymol 1987;144:96-114.
22. Boye E, Vetrie D, Flinter F, Buckle B, Pihlajaniemi T, Hämäläinen ER, Myers JC, Bobrow M, Harris A: Major rearrangements in the α5(IV) collagen gene in three patients with Alport syndrome. Genomics 1991;11:1125-1132.
23. Zhou J, Herz JM, Leinonen A, Tryggvason K: Complete amino acid sequence of the human α5 collagen chain and identification of a single base mutation in exon 29 from the 3′ end converting glycine-521 in the collagenous domain to cysteine in an Alport syndrome patient. J Biol Chem 1992;267:12475-12481.
24. Antignac C, Zhou J, Sanak M, Cochat P, Rousssel B, Deschênes G, Knebelmann B, Hors MC, Tryggvason K, Gubler MC: Alport syndrome and diffuse leiomyomatosis - Deletions in the 5′ end of the COL4A5 collagen gene. Kidney Int 1992;42:1178-1183.
25. Knebelmann B, Deschênes G, Gros F, Hors MC, Grünfeld J-P, Zhou J, Tryggvason K, Gubler M-C, Antignac C: Substitution of arginine for glycine-325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 1992;51:135-142.
26. Netzer KO, Renders L, Zhou J, Pullig O, Tryggvason K, Weber M: Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 1992;43:1336-1344.
27. Smeets HJM, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansaweijer MCE, Monnens LAH, Brunner HG, van Oost BA: Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int 1992;42:83-88.
28. Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M: De novo mutation in the COL4A5 gene converting glycine-325 to glutamic acid in Alport syndrome. Hum Mol Genet 1992;1:127-129.
29. Renieri A, Seri M, Myers JC, Pihlajaniemi T, Sessa A, Rizzoni G, De Marchi M: Alport syndrome caused by a 5′ deletion within the COL4A5 gene. Hum Genet 1992;89:120-121.
30. Zhou J, Hertz JM, Tryggvason K: Mutation in the α5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 1992;50:1291-1300.
31. Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WAG, Roodvoets AP, Rascher W, van Oost BA, Smeets JM: Systematic screening for mutations in 16 exons of the COL4A5 in Alport syndrome. Genomics 1993;17:485-489.
32. Netzer KO, Pullig O, Zhou J, Frei U, Tryggvason K, Weber M: COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Kidney Int 1993;43:486-492.
33. Zhou J, Gregory MC, Hertz JM, Barker DF, Atkin C, Spencer E, Tryggvason K: Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome. Kidney Int 1993;43:722-729.
34. Boye E, Flinter FA, Bobrow M, Harris A: An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient. Hum Mol Genet 1993;2:595-596.
35. Nomura S, Osawa G, Sai T, Harano T, Harano K: A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome. Kidney Int 1993;43:116-1124.
36. Zhou J, Leinonen A, Tryggvason K: Structure of the human type IV collagen COL4A5 gene. J Biol Chem 1994;269:6608-6614.
37. Vetrie D, Flinter F, Bobrow M, Harris A: Long-range mapping of the gene for the human alpha 5(IV) collagen chain at Xq22-q23. Genomics 1992;12:130-138.
38. Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC: Identification of the cystic fibrosis gene: Genetic analysis. Science 1989;245:1073-1080.
39. Kuivaniemi H, Tromp F, Prockop DJ: Mutations in collagen genes: Causes of rare and some common diseases in humans. FASEB J 1991;5:2052-2060.
40. Hostikka SL, Tryggvason K: The complete primary structure of the α2 chain of human type IV collagen and comparison with the α1(IV) chain. J Biol Chem 1988;263:19488-19493.
41. Blumberg B, MacKrell AJ, Fessler JH: Drosophila basement membrane procollagen alpha 1(IV). II. Complete cDNA sequence, genomic structure and general implications for supramolecular assemblies. J Biol Chem 1988;263:18328-18337.
42. Guo X, Kramer JM: The two Caenorhabditis elegans basement membrane (type IV) collagen genes are located on separate chromosomes. J Biol Chem 1989;264:17574-17582.
43. Morrison KE, Mariyama M, Yang-Feng TL, Reeders ST: Sequence and localization of a partial cDNA encoding the human α3 chain of type IV collagen. Am J Hum Genet 1991;49:545-554.
44. Muthukumaran G, Blumberg B, Kurkinen M: The complete primary structure for the α1-chain of mouse collagen IV. Differential evolution of collagen IV domains. J Biol Chem 1989;264:6310-6317.
45. Exposito JY, D'Alessio M, Di Leberto M, Ramirez F: Complete primary structure of a sea urchin type IV collagen α chain and analysis of the 5′ end of its gene. J Biol Chem 1993;268:5249-5254.
46. Mariyama M, Kalluri R, Hudson BG, Reeders ST: The α4(IV) chain of basement membrane collagen. Isolation of cDNAs encoding bovine α4(IV) and comparison with other type IV collagens. J Biol Chem 1992;267:1253-1258.
47. Saus J, Quinones S, MacKrell A, Blumberg B, Muthukumaran G, Pihlajaniemi T, Kurkinen M: The complete primary structure of mouse α2(IV) collagen. Alignment with mouse α1(IV) collagen. J Biol Chem 1989;264:6318-6324.
48. Siebold B, Deutzmann R, Kühn K: The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen. Eur J Biochem 1988;176:617-624.
49. Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massela L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, Basolo B, Piccoli G, De Marchi M: Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. Hum Genet 1993;92:417-420.
50. Hudson BG, Reeders ST, Tryggvason K: Type IV collagen: Structure, gene organization, and role in human diseases: Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. Minireview. J Biol Chem 1993;268:26033-26036.
51. 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 1993;261:1167-1169.
52. Beaudet AL, Tsui LC: A suggested nomenclature for designating mutations. Hum Mutat 1993;2:245-248.
53. Renieri A, Meroni M, Sessa A, Battini G, Serbelloni P, Torri Tarelli L, Seri M, Galli L, De Marchi M: Variability of clinical phenotype in a large Alport family with gly1143→ser change of collagen α5(IV) chain. Nephron 1994;67:444-449.
54. Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio, Peissel B, Rossetti S, Pignatti, Turco A: Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome. Hum Mol Genet 1994;3:201-202.
55. Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M: A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient. Hum Mutat 1994;3:386-390.
56. Antignac C, Knebelmann B, Drouot L, Deschênes G, Hors-Cayla M-C, Zhou J, Tryggvason K, Grünfeld J-P, Broyer M, Gubler M-C: Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: Characterization of the pathological transcripts in non-renal cells and correlation with disease expression. J Clin Invest 1994;93:1195-1207.
57. Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M: De novo COL4A5 gene mutations in Alport syndrome. Nephrol Dial Transplant 1994;9:1408-1411.
58. Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabioi A: A deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. Hum Mutat 1994;4:195-198.