The type IV collagen gene family

Contributions to Nephrology

Volumn 117, Issue , 1996, Pages 105-129

  Heikkilä, Pirkko ^a   Soininen, Raija ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; MESSENGER RNA;

ANIMAL; CHEMISTRY; DNA PROBE; EXON; GENE EXPRESSION REGULATION; GENETICS; HUMAN; INTRON; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; REVIEW;

ANIMALS; BASE SEQUENCE; COLLAGEN; DNA PROBES; EXONS; GENE EXPRESSION REGULATION; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; RNA, MESSENGER;

EID: 0029692572     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Review

References (74)

1. Blumberg B, MacKrell AJ, Olson PF, Kurkinen M, Monson JM, Natzle JE, Fessler JH: Basement membrane procollagen IV and its specialized carboxyl domain are conserved in Drosophila, mouse, and human. J Biol Chem 1987;262:5947-5950.
2. 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.
3. Oohashi T, Sugimoto M, Mattei M-G, Ninomiya Y: Identification of a new collagen IV chain α6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5. J Biol Chem 1994;269:7520-7526.
4. Pihlajaniemi T, Tryggvason K, Myers JC, Kurkinen M, Lebo R, Cheung M-C, Prockop DJ, Boyd CD: cDNA clones coding 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.
5. Solomon E, Hiorns LR, Spurr N, Kurkinen M, Barlow D, Hogan BLM, Dalgleish R: Chromosomal assignments of the genes coding for human types II, III, and IV collagen: A dispersed gene family. Proc Natl Acad Sci USA 1985;82:3330-3334.
6. Boyd CD, Weliky K, Toth-Fejel SE, Deak SB, Christiano AM, Mackenzie JW, Sandell LJ, Tryggvason K, Magenis E: The single copy gene coding for human α1(IV) procollagen is located at the terminal end of the long arm of chromosome 13. Hum Genet 1986;74:121-125.
7. Emanuel BS, Sellinger BT, Gudas LJ, Myers JC: Localization of the human procollagen α1(IV) gene to chromosome 13q34 by in situ hybridization. Am J Hum Genet 1986;38:38-44.
8. Griffin CA, 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.
9. Killen PD, Francomano CA, Yamada Y, Modi WS, O'Brien SJ: Partial structure of the human α2(IV) collagen chain and chromosomal localization of the gene (COL 4A2). Hum Genet 1987;77:318-324.
10. Boyd CD, Toth-Fejel S, Gadi IK, Litt M, Condon MR, Kolbe M, Hagen IK, Kurkinen M, Mackenzie JW, Magenis E: The genes coding for human pro alpha 1(IV) and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13. Am J Hum Genet 1988;42:309-314.
11. Cutting GR, Kazazian HH Jr, Antonarakis SE, Killen PD, Yamada Y, Francomano CA: Macrorestriction mapping of COL4A1 and COL4A4 collagen genes on human chromosome 13q34. Genomics 1988;3:256-263.
12. Bowcock AM, Hebert JM, Wij̈sman E, Gadi I, Cavalli-Sforza LL, Boyd CD: High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q. Proc Natl Acad Sci USA 1988;85:2701-2705.
13. 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.
14. Kamagata Y, Mattei M-G, Ninomiya Y: Isolation and sequencing of cDNAs and genomic DNAs encoding the α4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2. J Biol Chem 1992;267:23753-23758.
15. 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 1992;13:809-813.
16. Weil D, Mattei M-G, Passage E, Vang Cong N, Pribula-Conway D, Mann K, Deutzmann R, Timpl R, Chu M-L: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 1988;42:435-445.
17. Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC: Human α1(III) and α2(V) procollagen genes are located on the long arm of chromosome 2. Proc Natl Acad Sci USA 1985;82:3385-3389.
18. Schurr E, Skamene E, Morgan K, Chu M-L, Gros P: Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics 1990;8:477-486.
19. 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.
20. Myers JC, Jones TA, Pohjolainen E-R, Kadri AS, Goddard AD, Sheer D, Solomon E, Pihlajaniemi T: Molecular cloning of α5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. Am J Hum Genet 1990;46:1024-1033.
21. Brown SDM, Avner P, Boyd Y, Chapman V, Rastan S, Sefton L, Thomas JD, Herman GE: Mouse X chromosome. Mammalian Genome 1993;4:S269-S281.
22. 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) collagaen genes in inherited smooth muscle tumors. Science 1993;261:1167-1169.
23. Kurkinen M, Bernard MP, Barlow DP, Chow LT: Characterization of 64-, 123-, and 182-base pair exons in the mouse α2(IV) collagen gene. Nature 1985;317:177-179.
24. Sakurai Y, Sullivan M, Yamada Y: α1 type IV collagen gene evolved differently from fibrillar collagen genes. J Biol Chem 1986;261:6654-6657.
25. Soininen R, Chow L, Kurkinen M, Tryggvason K, Prockop DJ: The gene for the α1(IV) chain of human type IV procollagen: The exon structures do not coincide with the structural subdomains in the globular carboxy-terminus of the protein. EMBO J 1986;5:2821-2823.
26. Soininen R, Tikka L, Chow L, Pihlajaniemi T, Kurkinen M, Prockop DJ, Boyd CD, Tryggvason K: Large introns in the 3′-end of the gene for the proα1(IV) chain of human basement membrane collagen. Proc Natl Acad Sci USA 1986;83:1568-1572.
27. Srivastava AK, Featherstone T, Wein K, Schlessinger D: YAC contigs mapping the human COL4A5 and COL4A6 genes and DXS118 within Xq21.3-q22. Genomics 1995;26:502-509.
28. Soininen R, Huotari M, Ganguly A, Prockop DJ, Taryggvason K: Structural organization of the gene for the α1(IV) chain of human type IV collagen. J Biol Chem 1989;264:13565-13571.
29. Brinker JM, Gudas LJ, Loidl HR, Wang S-Y, Rosenbloom J, Kefalides NA, Myers JC: Restricted homology between human α1 type IV and other procollagen chains. Proc Natl Acad Sci USA 1985;82:3649-3653.
30. Tikka L, Roiko K, Soininen R, Prockop DJ, Tryggvason K: A HindIII polymorphism in the 3′ end of the human α1(IV) collagen gene. Nucleic Acids Res 1987;15:5497.
31. Burbelo PD, Martin GR, Yamada Y: α1(IV) and α2(IV) collagen genes are regulated by a bidirectional promoter and a shared enhancer. Proc Natl Acad Sci USA 1988;85:9679-9682.
32. Kaytes P, Wood L, Theriault N, Kurkinen M, Vogeli G: Head-to-head arrangement of murine type IV collagen genes. J Biol Chem 1988;263:19274-19277.
33. Pöschl E, Pollner R, Kühn K: The genes for the α1(IV) and α2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. EMBO J 1988;7:2687-2695.
34. Soininen R, Huotari M, Hostikka SL, Prockop DJ, Tryggvason K: The structural genes for α1 and α2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. J Biol Chem 1988;263:17217-17220.
35. Buttice G, Kaytes P, D'Armiento J, Vogeli G, Kurkinen M: Evolution of collagen IV genes from a 54-base pair exon: A role for introns in gene evolution. J Mol Evol 1990;30:479-488.
36. Hostikka SL, Tryggvason K: Extensive structural differences between genes for the α1 and α2 chains of type IV collagen despite conservation of coding sequences. FEBS Lett 1987;224:297-305.
37. Zhou J, Hostikka SL, Chow LT, Tryggvason K: Characterization of the 3′ half of the human type IV collagen A5 gene that is affected in Alport syndrome. Genomics 1991;9:1-9.
38. Zhou J, Leinonen A, Tryggvason K: Structure of the human type IV collagen COL4A5 gene. J Biol Chem 1994;269:6608-6614.
39. Guo C, van Damme B, van Damme-Lompaerts R, van den Berghe H, Cassiman J-J, Marynen P: Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NCl domain. Kidney Int 1993;44:1316-1321.
40. Tikka L, Pihlajaniemi T, Henttu P, Prockop DJ, Tryggvason K: Gene structure for the α1 chain of human short chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5′ end of the last exon. Proc Natl Acad Sci USA 1988;85:7491-7495.
41. Saito A, Sakatsume M, Yamazaki H, Arakawa M: Alternative splicing in the alpha5(IV) collagen gene in human kidney and skin tissues. Nippon Jinzo Gakki Shi 1994;36:19-24.
42. Dölz R, Engel J, Kühn K: Folding of collagen IV. Eur J Biochem 1988;178:357-366.
43. 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 1990;248:1224-1227.
44. Sugimoto M, Oohashi T, Ninomiya Y: The genes COL4A5 and COL4A6, coding for basement membrane collagen chains α5(IV) and α6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. Proc Natl Acad Sci USA 1994;91:11679-11683.
45. Heidel L, Dahan K, Zhou J, Zhang X, Cochat P, Gould JDM, Leppig KA, Proesmans W, Guyot C, Guillot M, Roussel B, Tryggvason K, Grünfeld J-P, Gubler M-C, Antignac C: Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet 1995;4:99-108.
46. Quinones S, Bernal D, Carcia-Sogo M, Elena SF, Saus J: Exon/intron structure of the human α3(IV) gene encompassing the Goodpasture antigen (α3(IV)NCl). Identification of a potentially antigenic region at the triple helix/NCl domain junction. J Biol Chem 1992;267:19780-19784.
47. Bernal D, Quinones S, Saus J: The human mRNA encoding the Goodpasture antigen is alternatively spliced. J Biol Chem 1993;268:12090-12094.
48. Feng L, Xia Y, Wilson CB: Alternative splicing of the NCl domain of the human α3(IV) collagen gene. Differential expression of mRNA transcripts that predict three protein variants with distinct carboxyl regions. J Biol Chem 1994;269:2342-2348.
49. Sugimoto M, Oohashi T, Yoshioka H, Matsuo N, Ninomiya Y: cDNA isolation and partial gene structure of the human α4(IV) collagen chain. FEBS Lett 1993;330:122-128.
50. Blumberg B, MacKrell AJ, Fessler JH: Drosophila basement membrane procollagen α1(IV). II. Complete cDNA sequence, genomic structure and general implications for supramolecular assemblies. J Biol Chem 1988;263:18328-18337.
51. Guo X, Johnson JJ, Kramer JM: Embryonic lethality caused by mutations in basement membrane collagen of C. elegans. Nature 1991;349:707-709.
52. Pettitt J, Kingston IB: The complete primary structure of a nematode α2(IV) collagen and the partial structural organization of its gene. J Biol Chem 1991;266:16149-16156.
53. Venkatesan M, de Pablo F, Vogeli G, Simpson RT: Structure and developmentally regulated expression of a Strongylocentrotus purpuratus collagen. Proc Natl Acad Sci USA 1986;83:3351-3355.
54. Exposito JY, D'Alessio M, Di Liberto M, Ramirez F: Complete primary structure of a sea urchin type IV collagen a chain and analysis of the 5′ end of its gene. J Biol Chem 1993;268:5249-5254.
55. Sibley MH, Johnson JJ, Mello CC, Kramer JM: Genetic identification, sequence, and alternative splicing of the Caenorhabditis elegans α2(IV) collagen gene. J Cell Biol 1993;123:255-264.
56. Sibley MH, Graham PL, von Mende N, Kramer JM: Mutations in the α2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities. EMBO J 1994;13:3278-3285.
57. Pettitt J, Kingston IB: Developmentally regulated alternative splicing of a nematode type IV collagen gene. Dev Biol 1994;161:22-29.
58. Exposito JY, Suzuki H, Geourjon C, Garrone R, Solursh M, Ramirez F: Identification of a cell lineage-specific gene coding for a sea urchin α2(IV)-like collagen chain. J Biol Chem 1994;269:13167-13171.
59. Heikkilä, Soininen R, Tryggvason K: Directional regulatory activity of cis-acting elements in the bidirectional α1(IV) and α2(IV) collagen gene promoter. J Biol Chem 1993;268:24677-24682.
60. Schmidt C, Fischer G, Kadner H, Genersch E, Kühn K, Pöschl E: Differrential effects of DNA-binding proteins on bidirectional transcription from the common promoter region of human collagen type IV genes COL4A1 and COL4A2. Biochim Biophys Acta 1993;1174:1-10.
61. Fischer G, Schmidt C, Opitz J, Cully Z, Kühn K, Pöschl E: Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. Biochem J 1993;292:687-695.
62. Genersch E, Eckerskorn C, Lottspeich F, Herzog C, Kühn K, Pöschl E: Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: Subunits with homology to Ku antigen. EMBO J 1995;14:791-800.
63. Burbelo PD, Utani A, Pan Z-Q, Yamada Y: Cloning of the large subunit of activator 1 (replication factor C) reveals homology with bacterial DNA ligases. Proc Natl Acad Sci USA 1993;90:11543-11547.
64. Sawadogo M, Sentenac A: RNA polymerase B (II) and general transcription factors. Annu Rev Biochem 1990;59:711-754.
65. Killen PD, Burbelo PD, Martin GR, Yamada Y: Characterization of the promoter for the α1(IV) collagen gene. DNA sequencing within the first intron enhance transcription. J Biol Chem 1988;263:12310-12314.
66. Burbelo PD, Bruggeman LA, Gabriel GC, Klotman PE, Yamada Y: Characterization of a cis-acting element required for efficient transcriptional activation of the collagen IV enhancer. J Biol Chem 1991;266:22297-22302.
67. Tanaka S, Kaytes P, Kurkinen M: An enhancer for transcription of collagen IV genes is activated by F9 cell differentiation. J Biol Chem 1993;268:8862-8870.
68. Pollner R, Fischer G, Pöschl E, Kühn K: Regulation of divergent transcription of the genes coding for basement membrane type IV collagen. Ann NY Acad Sci 1990;580:44-54.
69. Buchman AR, Berg P: Comparison of intron-dependent and intron-independent gene expression. Mol Cell Biol 1988;8:4395-4405.
70. Yamada Y, Kühn K: Genes and regulation of basement membrane collagen and laminin synthesis; in Rohrbach DH, Timpl R (eds): Molecular and Cellular Aspects of Basement Membranes. San Diego, Academic Press, 1993, pp 121-146.
71. Yamada Y, Avvedimento VE, Mudryj M, Ohkubo H, Vogeli G, Irani M, Pastan I, de Crombrugghe B: The collagen gene: Evidence for its evolutionary assembly by amplification of a DNA segment containing an exon of 54 bp. Cell 1980;22:887-892.
72. Ramirez F, Bernard M, Chu M-L, Dickson L, Sangiorgi F, Weil D, de Wet W, Junien C, Sobel M: Isolation and characterization of the human fibrillar collagen genes. Ann NY Acad Sci 1985;460:117-124.
73. Wang B, Korfhagen TR, Gallagher PM, D'Amore M, McNeish J, Potter SS, Ganschow RE: Overlapping transcriptional units on the same strand within the murine β-glucuronidase gene complex. J Biol Chem 1988;263:15841-15844.
74. Lyon MF, Kirby MC: Mouse chromosome atlas. Mouse Genome 1995;93:23-66.