Home LiteratureArticle Details
PMID: 8398803 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Learning how mutations in type I collagen genes cause connective tissue disease.

International journal of experimental pathology ·Vol. 74 ·No. 4 ·1993-08-00 ·Pages 319-23

Kadler KE

Abstract

暂无摘要

MeSH Terms
Animals Collagen/chemistry,genetics Connective Tissue Diseases/genetics Ehlers-Danlos Syndrome/genetics Exons/genetics Genes/genetics Humans Mutation/genetics Procollagen/genetics
Chemicals
Procollagen Collagen
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Kadler K E
Department of Biological Sciences, University of Manchester, School of Biological Sciences, UK.
References (33)
33 references, click to expand
  1. Assembly of type I collagen fibrils de novo. Between 37 and 41 degrees C the process is limited by micro-unfolding of monomers.
    J Biol Chem. 1988 Jul 25;263(21):10517-23 PMID: 3392022
  2. A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.
    J Biol Chem. 1988 Dec 15;263(35):19249-55 PMID: 3198624
  3. Collagen fibrillogenesis in situ: fibril segments are intermediates in matrix assembly.
    Proc Natl Acad Sci U S A. 1989 Jun;86(12):4549-53 PMID: 2734306
  4. Type I procollagen N-proteinase from chick embryo tendons. Purification of a new 500-kDa form of the enzyme and identification of the catalytically active polypeptides.
    J Biol Chem. 1989 Jul 5;264(19):11336-45 PMID: 2500439
  5. The regulation of size and form in the assembly of collagen fibrils in vivo.
    Biopolymers. 1989 Aug;28(8):1367-82 PMID: 2752095
  6. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
    EMBO J. 1989 Jun;8(6):1705-10 PMID: 2767050
  7. Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.
    J Biol Chem. 1989 Oct 5;264(28):16804-9 PMID: 2777808
  8. Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide.
    J Mol Biol. 1989 Nov 20;210(2):337-45 PMID: 2600969
  9. In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
    J Biol Chem. 1990 Apr 15;265(11):6312-7 PMID: 2318855
  10. Collagen fibrils in vitro grow from pointed tips in the C- to N-terminal direction.
    Biochem J. 1990 Jun 1;268(2):339-43 PMID: 2363677
  11. Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.
    J Biol Chem. 1990 Sep 15;265(26):16007-11 PMID: 2394758
  12. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
    Am J Hum Genet. 1991 Feb;48(2):305-17 PMID: 1990839
  13. Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.
    Hum Genet. 1991 Jun;87(2):193-8 PMID: 1712342
  14. Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.
    Am J Hum Genet. 1991 Aug;49(2):400-6 PMID: 1867198
  15. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
    J Biol Chem. 1992 Mar 25;267(9):6361-9 PMID: 1556139
  16. Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
    J Biol Chem. 1992 May 5;267(13):9093-100 PMID: 1577745
  17. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
    Am J Hum Genet. 1992 Aug;51(2):235-44 PMID: 1642226
  18. Growing tips of type I collagen fibrils formed in vitro are near-paraboloidal in shape, implying a reciprocal relationship between accretion and diameter.
    Proc Natl Acad Sci U S A. 1992 Oct 15;89(20):9855-9 PMID: 1409712
  19. Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.
    J Biol Chem. 1992 Dec 15;267(35):25521-8 PMID: 1460046
  20. A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.
    J Biol Chem. 1992 Dec 15;267(35):25529-34 PMID: 1460047
  21. Collagen made of extended -chains, procollagen, in genetically-defective dermatosparaxic calves.
    Eur J Biochem. 1971 Dec 10;23(3):533-43 PMID: 5139217
  22. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
    Science. 1973 Oct 19;182(4109):298-300 PMID: 4742738
  23. A hereditary dysplasia of collagen tissues in sheep.
    J Pathol. 1974 Mar;112(3):183-8 PMID: 4835120
  24. The biosynthesis of collagen and its disorders (first of two parts).
    N Engl J Med. 1979 Jul 5;301(1):13-23 PMID: 449904
  25. Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.
    J Invest Dermatol. 1980 Feb;74(2):100-4 PMID: 7351497
  26. Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.
    J Invest Dermatol. 1980 Feb;74(2):96-9 PMID: 7351504
  27. Collagen fibril formation during embryogenesis.
    Proc Natl Acad Sci U S A. 1983 Jun;80(11):3354-8 PMID: 6574488
  28. A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
    J Biol Chem. 1985 Sep 15;260(20):11322-9 PMID: 2993307
  29. Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.
    J Biol Chem. 1985 Dec 15;260(29):15996-6003 PMID: 3905801
  30. Collagen fibrillogenesis in human skin.
    Ann N Y Acad Sci. 1985;460:246-57 PMID: 3914229
  31. Surface-induced aggregation of type I procollagen.
    J Mol Biol. 1987 Jun 5;195(3):543-53 PMID: 3656425
  32. Assembly of collagen fibrils de novo by cleavage of the type I pC-collagen with procollagen C-proteinase. Assay of critical concentration demonstrates that collagen self-assembly is a classical example of an entropy-driven process.
    J Biol Chem. 1987 Nov 15;262(32):15696-701 PMID: 3316206
  33. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
    J Biol Chem. 1988 Jun 25;263(18):8561-4 PMID: 2454224
Article Info
Journal
International journal of experimental pathology
Abbr.
Int J Exp Pathol
ISSN
0959-9673
Published
1993-08-00
Pages
319-23
Language
English
Region
England
NLM ID
9014042
PMCID
PMC2001856
Subset
IM
Grants
Wellcome Trust · United Kingdom
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com