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PMID: 3692475 Published · ppublish English Journal Article

Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).

Human genetics ·Vol. 77 ·No. 4 ·1987-12-00 ·Pages 318-24

Killen PD, Francomano CA, Yamada Y, Modi WS, O'Brien SJ

Abstract

We have isolated a 2.1-kb cDNA clone from a human placental library encoding part of the alpha 2 chain of collagen IV, a major structural protein of basement membranes. The DNA sequence encodes 446 amino acids in the triple-helical domain plus the 227 amino acids of the carboxy-terminal globular domain. The latter structure is composed of two homologous subdomains and is highly conserved between the alpha 1 and alpha 2 chains. The triple-helical domain contained seven interruptions of the Gly-X-Y repeat and these interruptions were in general larger than their counterparts in the alpha 1 chain. DNA from human rodent hybrid cell lines was analyzed under conditions in which there was no cross-hybridization of the alpha 2(IV) cDNA probe with the gene for the alpha 1(IV) collagen chain. An EcoRI fragment characteristic of the alpha 2 chain had a concordance of 0.97 with chromosome 13. This result was confirmed and extended with in situ localization of the gene at 13q34. Since the alpha 1(IV) gene has previously been localized to 13q34, the two type IV collagen genes reside in the same chromosome region (13q34), possibly in a gene cluster. The presence of the genes for type IV collagen chains on chromosome 13 excludes a primary role for these genes in adult polycystic kidney disease and X-linked forms of hereditary nephritis.

MeSH Terms
Amino Acid Sequence Animals Base Sequence Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 13 Collagen/genetics Cricetinae DNA/genetics Genes Humans Hybrid Cells Karyotyping Mice Molecular Sequence Data Nucleic Acid Hybridization
Chemicals
Collagen DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Killen P D
Laboratory of Developmental Biology and Anomalies, National Institute of Dental Research, Bethesda, MD 20892.
Francomano C A
Yamada Y
Modi W S
O'Brien S J
References (50)
50 references, click to expand
  1. Restricted homology between human alpha 1 type IV and other procollagen chains.
    Proc Natl Acad Sci U S A. 1985 Jun;82(11):3649-53 PMID: 2582422
  2. A rapid single-stranded cloning strategy for producing a sequential series of overlapping clones for use in DNA sequencing: application to sequencing the corn mitochondrial 18 S rDNA.
    Plasmid. 1985 Jan;13(1):31-40 PMID: 3991809
  3. The gene for the alpha 1(IV) chain of human type IV procollagen: the exon structures do not coincide with the two structural subdomains in the globular carboxy-terminus of the protein.
    EMBO J. 1986 Nov;5(11):2821-3 PMID: 3792303
  4. Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen.
    Proc Natl Acad Sci U S A. 1984 Jun;81(12):3838-42 PMID: 6328527
  5. Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors.
    Science. 1986 Mar 28;231(4745):1559-62 PMID: 2420006
  6. The structure of type IV collagen.
    Ann N Y Acad Sci. 1985;460:14-24 PMID: 3868941
  7. Editorial: Alport's syndrome: a consideration of pathogenesis.
    Clin Nephrol. 1973 Nov-Dec;1(6):336-7 PMID: 4786573
  8. Genomic sequencing.
    Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991-5 PMID: 6326095
  9. Human type I procollagen genes are located on different chromosomes.
    Proc Natl Acad Sci U S A. 1982 Nov;79(21):6627-30 PMID: 6292910
  10. Structure of human-basement-membrane (type IV) collagen. Complete amino-acid sequence of a 914-residue-long pepsin fragment from the alpha 1(IV) chain.
    Eur J Biochem. 1984 Sep 17;143(3):545-56 PMID: 6434307
  11. Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.
    Am J Hum Genet. 1982 May;34(3):381-7 PMID: 6282119
  12. The pathogenesis of drug-induced renal cystic disease.
    Kidney Int. 1974 Jun;5(6):411-21 PMID: 4423327
  13. cDNA clones coding for the pro-alpha1(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 Jun 25;260(12):7681-7 PMID: 2581969
  14. Amino acid sequence of the non-collagenous globular domain (NC1) of the alpha 1(IV) chain of basement membrane collagen as derived from complementary DNA.
    Eur J Biochem. 1985 Mar 1;147(2):217-24 PMID: 2578961
  15. Role of basement membranes in cell differentiation.
    Ann N Y Acad Sci. 1987;513:134-45 PMID: 3328533
  16. Localization of binding sites for laminin, heparan sulfate proteoglycan and fibronectin on basement membrane (type IV) collagen.
    J Mol Biol. 1986 May 5;189(1):205-16 PMID: 2946868
  17. A network model for the organization of type IV collagen molecules in basement membranes.
    Eur J Biochem. 1981 Nov;120(2):203-11 PMID: 6274634
  18. Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.
    Am J Hum Genet. 1986 Jan;38(1):38-44 PMID: 3753820
  19. A conserved nucleotide sequence, coding for a segment of the C-propeptide, is found at the same location in different collagen genes.
    Nucleic Acids Res. 1983 May 11;11(9):2733-44 PMID: 6856474
  20. Rapid transfer of DNA from agarose gels to nylon membranes.
    Nucleic Acids Res. 1985 Oct 25;13(20):7207-21 PMID: 4059056
  21. Levels of translatable mRNAs for cell surface protein, collagen precursors, and two membrane proteins are altered in Rous sarcoma virus-transformed chick embryo fibroblasts.
    Proc Natl Acad Sci U S A. 1977 Aug;74(8):3399-403 PMID: 198783
  22. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.
    Chromosoma. 1981;83(3):431-9 PMID: 7273954
  23. Structure of mouse type IV collagen. Amino-acid sequence of the C-terminal 511-residue-long triple-helical segment of the alpha 2(IV) chain and its comparison with the alpha 1(IV) chain.
    Eur J Biochem. 1986 May 15;157(1):49-56 PMID: 3011432
  24. Dispersion of the ras family of transforming genes to four different chromosomes in man.
    Nature. 1983 Apr 28;302(5911):839-42 PMID: 6843651
  25. Attachment of cells to basement membrane collagen type IV.
    J Cell Biol. 1986 Oct;103(4):1569-75 PMID: 3771647
  26. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
    Proc Natl Acad Sci U S A. 1986 Aug;83(16):6045-7 PMID: 3016737
  27. Physical and immunochemical studies of the globular domain of type IV collagen. Cryptic properties of the Goodpasture antigen.
    J Biol Chem. 1985 Jul 15;260(14):8564-70 PMID: 2409091
  28. Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family.
    Proc Natl Acad Sci U S A. 1985 May;82(10):3330-4 PMID: 2987919
  29. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.
    J Clin Invest. 1986 Oct;78(4):1035-44 PMID: 2428839
  30. Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.
    Proc Natl Acad Sci U S A. 1987 Jan;84(2):512-6 PMID: 3025878
  31. Localization of flexible sites in thread-like molecules from electron micrographs. Comparison of interstitial, basement membrane and intima collagens.
    J Mol Biol. 1984 Jan 25;172(3):325-43 PMID: 6694213
  32. Amino acid sequence of the N-terminal aggregation and cross-linking region (7S domain) of the alpha 1 (IV) chain of human basement membrane collagen.
    Eur J Biochem. 1985 Oct 1;152(1):213-9 PMID: 4043082
  33. Models for the self-assembly of basement membrane.
    J Histochem Cytochem. 1986 Jan;34(1):93-102 PMID: 3510247
  34. High resolution R- and G-banding on the same preparation.
    Hum Genet. 1981;57(1):93-5 PMID: 7262875
  35. The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13.
    Hum Genet. 1986 Oct;74(2):121-5 PMID: 3770740
  36. Cell attachment activity of fibronectin can be duplicated by small synthetic fragments of the molecule.
    Nature. 1984 May 3-9;309(5963):30-3 PMID: 6325925
  37. Subunit structure and assembly of the globular domain of basement-membrane collagen type IV.
    Eur J Biochem. 1984 Mar 1;139(2):401-10 PMID: 6698021
  38. Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
    J Biol Chem. 1984 Sep 10;259(17):11129-38 PMID: 6469997
  39. Basal lamina scaffold-anatomy and significance for maintenance of orderly tissue structure.
    Am J Pathol. 1974 Nov;77(2):314-46 PMID: 4614671
  40. Polycystic kidney disease: prospective analysis of nonazotemic patients and family members.
    Ann Intern Med. 1984 Aug;101(2):238-47 PMID: 6742648
  41. Comparative analysis of the sequences of the three collagen chains alpha 1(I), alpha 2 and alpha 1(III) Functional and genetic aspects.
    J Mol Biol. 1980 Aug 15;141(3):293-314 PMID: 7431403
  42. Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.
    Proc Natl Acad Sci U S A. 1985 May;82(10):3385-9 PMID: 3858826
  43. Binding of laminin to type IV collagen: a morphological study.
    J Cell Biol. 1985 Jun;100(6):1848-53 PMID: 3997977
  44. Absence of Goodpasture's antigen in male patients with familial nephritis.
    Am J Kidney Dis. 1983 May;2(6):626-9 PMID: 6342375
  45. New Giemsa method for the differential staining of sister chromatids.
    Nature. 1974 Sep 13;251(5471):156-8 PMID: 4138930
  46. Procollagen IV. Association to tetramers.
    J Biol Chem. 1983 May 10;258(9):5869-77 PMID: 6853554
  47. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.
    Nature. 1985 Oct 10-16;317(6037):542-4 PMID: 2995836
  48. The structure of collagen genes.
    Int Rev Connect Tissue Res. 1983;10:1-63 PMID: 6315622
  49. Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.
    J Mol Biol. 1980 Oct 25;143(2):161-78 PMID: 6260957
  50. Mapping of an endogenous retroviral sequence to human chromosome 18.
    Nature. 1983 May 5-11;303(5912):74-7 PMID: 6843662
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291418
Published
1987-12-00
Pages
318-24
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291418 View journal details
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