Home LiteratureArticle Details
PMID: 8290349 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells.

Nucleic acids research ·Vol. 21 ·No. 25 ·1993-12-25 ·Pages 5890-5

van Hoffen A, Natarajan AT, Mayne LV, van Zeeland AA, Mullenders LH, Venema J

Abstract

Removal of ultraviolet light induced cyclobutane pyrimidine dimers (CPD) from active and inactive genes was analyzed in cells derived from patients suffering from the hereditary disease Cockayne's syndrome (CS) using strand specific probes. The results indicate that the defect in CS cells affects two levels of repair of lesions in active genes. Firstly, CS cells are deficient in selective repair of the transcribed strand of active genes. In these cells the rate and efficiency of repair of CPD are equal for the transcribed and the nontranscribed strand of the active ADA and DHFR genes. In normal cells on the other hand, the transcribed strand of these genes is repaired faster than the nontranscribed strand. However, the nontranscribed strand is still repaired more efficiently than the inactive 754 gene and the gene coding for coagulation factor IX. Secondly, the repair level of active genes in CS cells exceeds that of inactive loci but is slower than the nontranscribed strand of active genes in normal cells. Our results support the model that CS cells lack a factor which is involved in targeting repair enzymes specifically towards DNA damage located in (potentially) active DNA.

Related Genes
ADA DHFR
MeSH Terms
Adenosine Deaminase/genetics Cell Line, Transformed Cells, Cultured Cockayne Syndrome/genetics DNA Damage DNA Repair Fibroblasts Humans Pyrimidine Dimers Simian virus 40 Tetrahydrofolate Dehydrogenase/genetics Transcription, Genetic
Chemicals
Pyrimidine Dimers Tetrahydrofolate Dehydrogenase Adenosine Deaminase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
van Hoffen A
MGC-Department of Radiation Genetics and Chemical Mutagenesis, State University of Leiden, The Netherlands.
Natarajan A T
Mayne L V
van Zeeland A A
Mullenders L H
Venema J
References (31)
31 references, click to expand
  1. Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
    Int J Radiat Biol. 1988 Dec;54(6):911-28 PMID: 2903889
  2. Nuclear matrix associated DNA is preferentially repaired in normal human fibroblasts, exposed to a low dose of ultraviolet light but not in Cockayne's syndrome fibroblasts.
    Nucleic Acids Res. 1988 Nov 25;16(22):10607-22 PMID: 3205718
  3. Production of human factor IX in animals by genetically modified skin fibroblasts: potential therapy for hemophilia B.
    Blood. 1989 Feb;73(2):438-45 PMID: 2917183
  4. Cell type-specific transcriptional regulation of the human adenosine deaminase gene.
    Nucleic Acids Res. 1989 Feb 11;17(3):1061-76 PMID: 2784203
  5. Induction of the Escherichia coli lactose operon selectively increases repair of its transcribed DNA strand.
    Nature. 1989 Nov 2;342(6245):95-8 PMID: 2554145
  6. New bacteriophage vectors for the large scale production of single stranded insert DNA.
    J Biochem Biophys Methods. 1989 Aug-Sep;19(2-3):155-67 PMID: 2555405
  7. The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA.
    Nucleic Acids Res. 1990 Feb 11;18(3):443-8 PMID: 2308842
  8. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.
    Proc Natl Acad Sci U S A. 1990 Jun;87(12):4707-11 PMID: 2352945
  9. Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes.
    Mol Cell Biol. 1991 Aug;11(8):4128-34 PMID: 1649389
  10. Gene- and strand-specific repair in vitro: partial purification of a transcription-repair coupling factor.
    Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8232-6 PMID: 1896474
  11. Hierarchies of DNA repair in mammalian cells: biological consequences.
    Mutat Res. 1991 Sep-Oct;250(1-2):223-8 PMID: 1944339
  12. Escherichia coli mfd mutant deficient in "mutation frequency decline" lacks strand-specific repair: in vitro complementation with purified coupling factor.
    Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11574-8 PMID: 1763073
  13. Transcription affects the rate but not the extent of repair of cyclobutane pyrimidine dimers in the human adenosine deaminase gene.
    J Biol Chem. 1992 May 5;267(13):8852-6 PMID: 1577723
  14. Preferential repair of cyclobutane pyrimidine dimers in the transcribed strand of a gene in yeast chromosomes and plasmids is dependent on transcription.
    Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10696-700 PMID: 1438266
  15. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.
    Cell. 1992 Dec 11;71(6):939-53 PMID: 1339317
  16. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum.
    Cancer Res. 1982 Apr;42(4):1473-8 PMID: 6174225
  17. Purification and characterization of normal and mutant forms of T4 endonuclease V.
    J Biol Chem. 1982 Mar 10;257(5):2556-62 PMID: 6277906
  18. Excision repair in Cockayne syndrome.
    Mutat Res. 1982 Nov;106(1):179-89 PMID: 7162528
  19. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
    Anal Biochem. 1983 Jul 1;132(1):6-13 PMID: 6312838
  20. In vitro and in vivo analysis of the control of dihydrofolate reductase gene transcription in serum-stimulated mouse fibroblasts.
    J Cell Physiol. 1984 Jan;118(1):79-86 PMID: 6690454
  21. The gene structure of human anti-haemophilic factor IX.
    EMBO J. 1984 May;3(5):1053-60 PMID: 6329734
  22. DNA repair in an active gene: removal of pyrimidine dimers from the DHFR gene of CHO cells is much more efficient than in the genome overall.
    Cell. 1985 Feb;40(2):359-69 PMID: 3838150
  23. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).
    Biochemistry. 1985 Jul 2;24(14):3736-50 PMID: 2994716
  24. Differential DNA repair in transcriptionally active and inactive proto-oncogenes: c-abl and c-mos.
    Cell. 1986 May 9;45(3):417-23 PMID: 3698104
  25. 5-Fluorouracil augmentation of dihydrofolate reductase gene transcripts containing intervening sequences in methotrexate-resistant KB cells.
    Mol Pharmacol. 1986 Jun;29(6):643-8 PMID: 3713705
  26. Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.
    Hum Genet. 1986 Nov;74(3):270-4 PMID: 2877935
  27. Qualitative differences between replicative and repair synthesis of DNA in normal and transformed mouse cells as measured by precursor discrimination.
    Mutat Res. 1986 Nov;166(3):295-302 PMID: 3097531
  28. Preferential DNA repair of an active gene in human cells.
    Proc Natl Acad Sci U S A. 1986 Dec;83(23):8878-82 PMID: 3466163
  29. Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene.
    Cell. 1987 Oct 23;51(2):241-9 PMID: 3664636
  30. Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.
    Nucleic Acids Res. 1987 Nov 25;15(22):9365-78 PMID: 3684597
  31. The molecular genetics of hemophilia A and B in man. Factor VIII and factor IX deficiency.
    Adv Hum Genet. 1988;17:27-59 PMID: 3142226
Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/21.25.5890
Published
1993-12-25
Pages
5890-5
Language
English
Region
England
NLM ID
0411011
PMCID
PMC310470
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1093/nar/21.25.5890 PMC Full Text View journal details
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

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2