J H Hoeijmakers

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi Genome maintenance mechanisms for preventing cancer
    J H Hoeijmakers
    MGC Department of Cell Biology and Genetics, Centre for Biomedical Genetics, Erasmus University, PO Box 1738, 3000DR Rotterdam, The Netherlands
    Nature 411:366-74. 2001
  2. ncbi From xeroderma pigmentosum to the biological clock contributions of Dirk Bootsma to human genetics
    J H Hoeijmakers
    MGC, Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Mutat Res 485:43-59. 2001
  3. ncbi Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases
    T Seroz
    MGC Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nucleic Acids Res 28:4506-13. 2000
  4. ncbi The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells
    L J Niedernhofer
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    EMBO J 20:6540-9. 2001
  5. ncbi Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
    J de Boer
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cancer Res 59:3489-94. 1999
  6. ncbi Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F
    A J van Vuuren
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    EMBO J 12:3693-701. 1993
  7. ncbi The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor
    G Weeda
    Department of Cell Biology, Medical Genetics Center, Erasmus University, Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nucleic Acids Res 25:2274-83. 1997
  8. ncbi Characterization of mRAD18Sc, a mouse homolog of the yeast postreplication repair gene RAD18
    R van der Laan
    MGC, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, The Netherlands
    Genomics 69:86-94. 2000
  9. ncbi ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor
    E Citterio
    Medical Genetic Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 20:7643-53. 2000
  10. ncbi Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity
    K Sugasawa
    Department of Cell Biology and Genetics, Medical Genetic Centre, Erasmus University, Rotterdam, The Netherlands
    Mol Cell Biol 17:6924-31. 1997

Collaborators

Detail Information

Publications78

  1. ncbi Genome maintenance mechanisms for preventing cancer
    J H Hoeijmakers
    MGC Department of Cell Biology and Genetics, Centre for Biomedical Genetics, Erasmus University, PO Box 1738, 3000DR Rotterdam, The Netherlands
    Nature 411:366-74. 2001
    ..This review summarizes the main DNA caretaking systems and their impact on genome stability and carcinogenesis...
  2. ncbi From xeroderma pigmentosum to the biological clock contributions of Dirk Bootsma to human genetics
    J H Hoeijmakers
    MGC, Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Mutat Res 485:43-59. 2001
    ..The latter indicates that it is time to return to 'de Fluessen', where we will consider briefly the merits of Dirk Bootsma for Dutch science in general...
  3. ncbi Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases
    T Seroz
    MGC Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nucleic Acids Res 28:4506-13. 2000
    ..These findings extend the conservation of the NER apparatus and the link between NER and basal transcription and suggest that hMMS19 exerts its function in repair and transcription by interacting with the XPB and XPD helicases...
  4. ncbi The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells
    L J Niedernhofer
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    EMBO J 20:6540-9. 2001
    ..We propose a model for the mechanism of targeted gene replacement that invokes a role for Ercc1-Xpf in making the recipient genomic locus receptive for gene replacement...
  5. ncbi Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
    J de Boer
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cancer Res 59:3489-94. 1999
    ..These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis...
  6. ncbi Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F
    A J van Vuuren
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    EMBO J 12:3693-701. 1993
    ..Furthermore, we find that 33 kDa ERCC1 protein sediments as a high mol. wt species of approximately 120 kDa in a native glycerol gradient.(ABSTRACT TRUNCATED AT 250 WORDS)..
  7. ncbi The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor
    G Weeda
    Department of Cell Biology, Medical Genetics Center, Erasmus University, Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nucleic Acids Res 25:2274-83. 1997
    ..Since SUG1 is an integral component of the 26S proteasome and may be part of the mediator, our findings disclose a SUG1-dependent link between TFIIH and the cellular machinery involved in protein modelling/degradation...
  8. ncbi Characterization of mRAD18Sc, a mouse homolog of the yeast postreplication repair gene RAD18
    R van der Laan
    MGC, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, The Netherlands
    Genomics 69:86-94. 2000
    ..Finally, we mapped the mRAD18Sc gene on mouse chromosome 6F...
  9. ncbi ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor
    E Citterio
    Medical Genetic Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 20:7643-53. 2000
    ..CSB is the first repair protein found to play a direct role in modulating nucleosome structure. The relevance of this finding to the interplay between transcription and repair is discussed...
  10. ncbi Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity
    K Sugasawa
    Department of Cell Biology and Genetics, Medical Genetic Centre, Erasmus University, Rotterdam, The Netherlands
    Mol Cell Biol 17:6924-31. 1997
    ..Furthermore, both rhHR23 proteins function in a defined NER system reconstituted with purified proteins, indicating direct involvement of hHR23 proteins in the DNA repair reaction via interaction with XPC...
  11. ncbi Mutational analysis of the human nucleotide excision repair gene ERCC1
    A M Sijbers
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Nucleic Acids Res 24:3370-80. 1996
    ..This suggests that the ERCC1-dependent step in cross-link repair occurs outside the context of NER and provides an explanation for the phenotype of the human repair syndrome xeroderma pigmentosum group F...
  12. ncbi Mapping of interaction domains between human repair proteins ERCC1 and XPF
    W L de Laat
    Department of Cell Biology and Genetics, Medical Genetics Centre, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nucleic Acids Res 26:4146-52. 1998
    ..ERCC1-XPF complex formation is established by a direct interaction between these two binding domains. A mutation from an XP-F patient that alters the ERCC1-binding domain in XPF indeed affects complex formation with ERCC1...
  13. ncbi A human and mouse homolog of the Schizosaccharomyces pombe rad1+ cell cycle checkpoint control gene
    H A Bluyssen
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, Rotterdam, 3000 DR, The Netherlands
    Genomics 54:331-7. 1998
    ..The human RAD1 gene could be localized on human chromosome 5p13, a region that has been implicated in the etiology of small cell lung carcinomas, squamous cell carcinomas, adenocarcinomas, and bladder cancer...
  14. ncbi Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence
    G Weeda
    Department of Cell Biology and Genetics, Medical Genetics Center, Erasmus University, Rotterdam P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Curr Biol 7:427-39. 1997
    ....
  15. ncbi Histone ubiquitination and chromatin remodeling in mouse spermatogenesis
    W M Baarends
    Department of Endocrinology and Reproduction, Erasmus University, Rotterdam, Rotterdam, 3000 DR, The Netherlands
    Dev Biol 207:322-33. 1999
    ..The postmeiotic uH2A immunoexpression in elongating spermatids indicates that nucleosome destabilization induced by histone ubiquitination may play a facilitating role during histone-to-protamine replacement...
  16. ncbi Human and mouse homologs of the Schizosaccharomyces pombe rad17+ cell cycle checkpoint control gene
    H A Bluyssen
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands
    Genomics 55:219-28. 1999
    ..Our results suggest that the structure and function of the checkpoint "rad" genes in the G2/M checkpoint pathway are evolutionary conserved between yeast and higher eukaryotes...
  17. ncbi RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    EMBO J 13:5361-9. 1994
    ..These findings suggest that TCR in lower eukaryotes is not very important for cell survival and that the global genome repair pathway of NER is the major determinant of cellular resistance to genotoxicity...
  18. ncbi Novel functional interactions between nucleotide excision DNA repair proteins influencing the enzymatic activities of TFIIH, XPG, and ERCC1-XPF
    G S Winkler
    Department of Cell Biology and Genetics, Medical Genetics Center, Center of Biomedical Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands
    Biochemistry 40:160-5. 2001
    ..These results point toward additional roles for TFIIH and ATP during NER distinct from a requirement for DNA unwinding in the regulation of the endonuclease activities of XPG and ERCC1-XPF...
  19. ncbi Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation
    T L Tan
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Curr Biol 9:325-8. 1999
    ..Rad54 appears to be required downstream of other Rad52 group proteins, such as Rad52 and the Rad55-Rad57 heterodimer, that assist Rad51 in interacting with the broken DNA [2] [3] [4]...
  20. ncbi Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C
    M L Dronkert
    Department of Cell Biology and Genetics, Centre for Biomedical Genetics, Erasmus University Rotterdam, The Netherlands
    Mol Cell Biol 20:4553-61. 2000
    ..However, they were sensitive to mitomycin C. The ICL sensitivity of the mammalian SNM1 mutant suggests that SNM1 function and, by implication, ICL repair are at least partially conserved between S. cerevisiae and mammals...
  21. ncbi Action of DNA repair endonuclease ERCC1/XPF in living cells
    A B Houtsmuller
    Department of Pathology Josephine Nefkens Institute, Erasmus University, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
    Science 284:958-61. 1999
    ....
  22. ncbi Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice
    A de Klein
    MGC Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University, Rotterdam, The Netherlands
    Curr Biol 10:479-82. 2000
    ..Thus, in contrast to the closely related checkpoint gene ATM, ATR has an essential function in early mammalian development...
  23. ncbi Homologous and non-homologous recombination differentially affect DNA damage repair in mice
    J Essers
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam
    EMBO J 19:1703-10. 2000
    ....
  24. ncbi The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    EMBO J 16:5955-65. 1997
    ..These findings suggest that CSB is implicated in, but not essential for, transcription, and support the idea that Cockayne syndrome is due to a combined repair and transcription deficiency...
  25. ncbi A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
    G Weeda
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Am J Hum Genet 60:320-9. 1997
    ..quot;..
  26. ncbi Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality
    J de Boer
    Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cancer Res 58:89-94. 1998
    ....
  27. ncbi A temperature-sensitive disorder in basal transcription and DNA repair in humans
    W Vermeulen
    MGC, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University, P O Box 1738, Rotterdam, The Netherlands
    Nat Genet 27:299-303. 2001
    ..Our findings reveal the clinical consequences of impaired basal transcription and mutations in very fundamental processes in humans, which previously were only known in lower organisms...
  28. ncbi Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair
    K Sugasawa
    Department of Cell Biology and Genetics, Medical Genetic Centre, Erasmus University, Rotterdam, The Netherlands
    Mol Cell 2:223-32. 1998
    ..After this subpathway-specific initial lesion detection, XPA may function as a common damage verifier and adaptor to the core of the NER apparatus...
  29. ncbi XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes
    P J van der Spek
    Department of Cell Biology and Genetics, Medical Genetic Centre, Erasmus University, Rotterdam, The Netherlands
    Nucleic Acids Res 24:2551-9. 1996
    ..Consistent with a function in repair or DNA/chromatin metabolism, immunofluorescence studies show all XPC, HHR23B and (the free) HHR23A to reside in the nucleus...
  30. ncbi Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
    W Vermeulen
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Am J Hum Genet 54:191-200. 1994
    ..Factors in addition to NER deficiency may be required for the development of cutaneous tumors...
  31. ncbi Cockayne syndrome: defective repair of transcription?
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    EMBO J 16:4155-62. 1997
    ..While the E. coli model still functions as a paradigm for TCR in eukaryotes, recent observations prompt us to believe that the situation in eukaryotes is much more complex, involving dual functionality of multiple proteins...
  32. ncbi Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6
    M H Koken
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Proc Natl Acad Sci U S A 88:8865-9. 1991
    ..cerevisiae RAD6 protein. Genetic complementation experiments reveal that HHR6A as well as HHR6B can carry out the DNA repair and mutagenesis functions of RAD6 in S. cerevisiae rad6 delta mutants...
  33. ncbi Conserved pattern of antisense overlapping transcription in the homologous human ERCC-1 and yeast RAD10 DNA repair gene regions
    M van Duin
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Mol Cell Biol 9:1794-8. 1989
    ..cerevisiae and humans (this is the first example in human cells), our findings indicate that antisense transcription in the ERCC-1-RAD10 gene regions represents an evolutionarily conserved feature...
  34. ncbi Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification
    H P Roest
    MGC Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences Erasmus University Rotterdam, The Netherlands
    Cell 86:799-810. 1996
    ..Since heterozygous male mice and even knockout female mice are completely normal and fertile and thus able to transmit the defect, similar hHR6B mutations may cause male infertility in man...
  35. ncbi Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse
    M J McKay
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, 3000DR, The Netherlands
    Genomics 36:305-15. 1996
    ..Cell cycle regulation of rad21, retained from S. pombe to human, is consistent with a conservation of function between S. pombe and human rad21 genes...
  36. ncbi Evolution and mutagenesis of the mammalian excision repair gene ERCC-1
    M van Duin
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Nucleic Acids Res 16:5305-22. 1988
    ..Since the ERCC-1 promoter is devoid of all classical promoter elements this region may be responsible for the low constitutive level of expression in all mouse tissues and stages of embryogenesis examined...
  37. ncbi Chromosomal stability and the DNA double-stranded break connection
    D C van Gent
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Rev Genet 2:196-206. 2001
    ..Now, interactions between both double-stranded break-repair pathways and other cellular processes, such as cell-cycle regulation and replication, are being unveiled...
  38. ncbi Mouse RAD54 affects DNA double-strand break repair and sister chromatid exchange
    M L Dronkert
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 20:3147-56. 2000
    ..Our results suggest that mRAD54 promotes gene conversion with predominant use of the sister chromatid as the repair template at the expense of error-prone SSA...
  39. ncbi Chromosomal localization of three repair genes: the xeroderma pigmentosum group C gene and two human homologs of yeast RAD23
    P J van der Spek
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Genomics 23:651-8. 1994
    ..1. Pulsed-field gel electrophoresis revealed that the HHR23B and XPC genes possibly share a MluI restriction fragment of about 625 kb. Potential involvement of the HHR23 genes in human genetic disorders is discussed...
  40. ncbi Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)
    A J van Vuuren
    Department of Cell Biology and Genetics, Erasmus University, The Netherlands
    EMBO J 13:1645-53. 1994
    ..The remarkable dual role of ERCC3 in NER and transcription provides a clue in understanding the complex clinical features of some inherited repair syndromes...
  41. ncbi The human RAD54 recombinational DNA repair protein is a double-stranded DNA-dependent ATPase
    S M Swagemakers
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    J Biol Chem 273:28292-7. 1998
    ..Possible functions of human Rad54 in homologous recombination that couple the energy gained from ATP hydrolysis to translocation along DNA, rather than disruption of base pairing, are discussed...
  42. ncbi Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification
    M H Koken
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Dev Biol 173:119-32. 1996
    ..Our findings support the idea that both HHR6 genes have overlapping, constitutive functions related to chromatin conformation and that they have a specific role in spermatogenesis, involving Ub-mediated histone degradation...
  43. ncbi Cancer from the outside, aging from the inside: mouse models to study the consequences of defective nucleotide excision repair
    J de Boer
    MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
    Biochimie 81:127-37. 1999
    ..This review will focus on data obtained thus far and discuss further utilization of the mouse mutants for unraveling some of the fascinating and medically relevant aspects associated with defects in NER and related processes...
  44. ncbi Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms
    G T van der Horst
    MGC, Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Nature 398:627-30. 1999
    ..This suggests that, in addition to a possible photoreceptor and antagonistic clock-adjusting function, both proteins are essential for the maintenance of circadian rhythmicity...
  45. ncbi Characterization of genes and proteins involved in excision repair of human cells
    J H Hoeijmakers
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Cell Sci Suppl 6:111-25. 1987
    ..Only the cDNA of the large transcript is able to confer repair proficiency to 43-3B cells. No effect of u.v. treatment is found at the level of ERCC-1 transcription in HeLa cells.(ABSTRACT TRUNCATED AT 400 WORDS)..
  46. ncbi Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3
    M H Koken
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Nucleic Acids Res 20:5541-8. 1992
    ..g. B) fibroblasts and group 3 rodent mutants did not yield detectable correction. One of the possibilities to explain these negative findings is that the D.melanogaster protein may be unable to function in a mammalian repair context...
  47. ncbi Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31
    M H Koken
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Genomics 12:447-53. 1992
    ..Southern blot analysis points to an X and an autosomal localization of HHR6A and HHR6B, respectively, in the mouse. The potential involvement of these genes in human genetic disorders is discussed...
  48. ncbi ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
    C Troelstra
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cell 71:939-53. 1992
    ..Mutation analysis of a CS-B patient indicates that the gene is not essential for cell viability and is specific for preferential repair of transcribed sequences...
  49. ncbi Differential ultraviolet-B-induced immunomodulation in XPA, XPC, and CSB DNA repair-deficient mice
    A Boonstra
    Department of Immunology, Erasmus University and University Hospital Rotterdam, The Netherlands
    J Invest Dermatol 117:141-6. 2001
    ....
  50. ncbi Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression
    J Garssen
    Laboratory for Pathology and Immunobiology and Laboratory of Health Effects Research, National Institute of Public Health and the Environment, Bilthoven, The Netherlands
    J Immunol 164:6199-205. 2000
    ....
  51. ncbi Dimerization and nuclear entry of mPER proteins in mammalian cells
    K Yagita
    Department of Anatomy and Brain Science, Kobe University School of Medicine, Chuoku, Kobe 650 0017, Japan
    Genes Dev 14:1353-63. 2000
    ..Deletion analysis suggests that the interplay of the CLD and NLS proposed to regulate nuclear entry of PER in Drosophila is conserved in mammals, but with the novel twist that mPER3 can act as the dimerizing partner...
  52. ncbi XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription
    Y Nakatsu
    Institute for Molecular and Cellular Biology, Osaka University, and CREST, Japan
    J Biol Chem 275:34931-7. 2000
    ..These results indicate that XAB2 is a novel component involved in transcription-coupled repair and transcription...
  53. ncbi Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10
    M van Duin
    Cell 44:913-23. 1986
    ..Significant amino acid sequence homology was found between the ERCC-1 gene product and the yeast excision repair protein RAD10. The most homologous region displayed structural homology with DNA binding domains of various polypeptides...
  54. ncbi A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome
    G Weeda
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratory, Leiden, The Netherlands
    Cell 62:777-91. 1990
    ..Because XP is associated with predisposition to skin cancer, ERCC-3 can be considered a tumor-preventing gene...
  55. ncbi Sequential assembly of the nucleotide excision repair factors in vivo
    M Volker
    Department of Radiation Genetics and Chemical Mutagenesis, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL, Leiden, The Netherlands
    Mol Cell 8:213-24. 2001
    ....
  56. ncbi Molecular cloning and biological characterization of the human excision repair gene ERCC-3
    G Weeda
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratory, Leiden, The Netherlands
    Mol Cell Biol 10:2570-81. 1990
    ..H. Thompson, A. V. Carrano, K. Sato, E. P. Salazar, B. F. White, S. A. Stewart, J. L. Minkler, and M. J. Siciliano, Somat. Cell. Mol. Genet. 13:539-551, 1987)...
  57. ncbi Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome
    G Weeda
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratory, Leiden, The Netherlands
    Nucleic Acids Res 19:6301-8. 1991
    ..Southern blot analysis revealed the presence of XPBC/ERCC-3 cross-hybridizing fragments elsewhere in the genome, which may belong to a related gene...
  58. ncbi Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21
    G Weeda
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratory, Leiden, The Netherlands
    Genomics 10:1035-40. 1991
    ..Cell Genet. 13: 539-551). Here we report its subchromosomal localization in the q21 region of chromosome 2 via somatic cell hybrids containing a translocated chromosome 2 and in situ hybridization with fluorescently labeled ERCC3 probes...
  59. ncbi Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's syndrome
    G Weeda
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratory, Leiden, The Netherlands
    Carcinogenesis 12:2361-8. 1991
    ..The mouse XPBC/ERCC-3 gene is expressed constitutively at low levels in all tissues examined except for testis, where its expression is significantly enhanced...
  60. ncbi Cloning of human and mouse genes homologous to RAD52, a yeast gene involved in DNA repair and recombination
    D F Muris
    Department of Radiation Genetics and Chemical Mutagenesis, State University of Leiden, The Netherlands
    Mutat Res 315:295-305. 1994
    ..The human equivalent maps to region p13.3 of chromosome 12. Until now, this human chromosome has not been implicated in any of the rodent mutants with a defect in the repair of double-strand breaks...
  61. ncbi Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
    B C Broughton
    MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton, United Kingdom
    Am J Hum Genet 56:167-74. 1995
    ..These mutations are in the C-terminal 20% of the 760-amino-acid XPD protein, in a region where we have recently identified several mutations in patients with trichothiodystrophy...
  62. ncbi The rhp6+ gene of Schizosaccharomyces pombe: a structural and functional homolog of the RAD6 gene from the distantly related yeast Saccharomyces cerevisiae
    P Reynolds
    Department of Biophysics, University of Rochester School of Medicine, NY 14642
    EMBO J 9:1423-30. 1990
    ..These observations suggest that functional interactions between RAD6 (rhp6+) protein and other components of the DNA repair complex have been conserved among eukaryotes...
  63. ncbi Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
    G T van der Horst
    Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Cell 89:425-35. 1997
    ..Further, they suggest that the lack of cancer predisposition in CS patients is attributable to a global genome repair process that in humans is more effective than in rodents...
  64. ncbi Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH
    J C Marinoni
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Universite Louis Pasteur, Strasbourg, France
    EMBO J 16:1093-102. 1997
    ....
  65. ncbi Disruption of mouse RAD54 reduces ionizing radiation resistance and homologous recombination
    J Essers
    Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Cell 89:195-204. 1997
    ..Thus, mRAD54 is not required for the recombination processes that generate functional immunoglobulin and T cell receptor genes...
  66. ncbi A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
    J de Boer
    MGC Department of Cell Biology and Genetics Erasmus University, Rotterdam, The Netherlands
    Mol Cell 1:981-90. 1998
    ..The cutaneous symptoms are associated with reduced transcription of a skin-specific gene strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair...
  67. ncbi Plant homologue of human excision repair gene ERCC1 points to conservation of DNA repair mechanisms
    H Xu
    Plant Molecular Biology and Biotechnology Laboratory, University of Melbourne, Parkville, Victoria, Australia
    Plant J 13:823-9. 1998
    ..These findings suggest that the NER mechanism is conserved in yeast, animals and higher plants...
  68. ncbi Cloning, comparative mapping, and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23
    P J van der Spek
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, Netherlands
    Genomics 31:20-7. 1996
    ..This may point to a fundamental difference between the UV responses of yeast and human. No stage-specific mRNA expression during the cell cycle was observed for the mammalian RAD23 homologs...
  69. ncbi The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway
    X W Wang
    Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4255, USA
    Genes Dev 10:1219-32. 1996
    ..Direct microinjection of the p53 carboxy-terminal-derived peptide (amino acid residues 319-393) resulted in apoptosis of primary normal human fibroblasts. These results disclose a novel pathway of p53-induced apoptosis...
  70. ncbi Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease
    A M Sijbers
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam The Netherlands
    Cell 86:811-22. 1996
    ..These results demonstrate that the XPF, ERCC4, and ERCC11 genes are equivalent, complete the isolation of the XP genes that form the core nucleotide excision repair system, and solve the catalytic function of the XPF-containing complex...
  71. ncbi A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription
    J R Hwang
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM, 1 rue Laurent Fries, B P 163, 67404 Illkirch Cedex, C U de Strasbourg, France
    J Biol Chem 271:15898-904. 1996
    ....
  72. ncbi Double mutants of Saccharomyces cerevisiae with alterations in global genome and transcription-coupled repair
    R A Verhage
    Laboratory of Molecular Genetics, Leiden Institute of Chemistry, Gorlaeus Laboratories, Leiden University, The Netherlands
    Mol Cell Biol 16:496-502. 1996
    ..Our findings also indicate locus heterogeneity for the dependence of transcription-coupled repair on RAD26...
  73. ncbi Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans
    S Parisi
    Institute of General Microbiology, University of Bern, 3012 Bern, Switzerland
    Mol Cell Biol 19:3515-28. 1999
    ..Sequence similarity and testis-specific expression indicate evolutionarily conserved functions of Rec8p in meiosis. Possible roles of Rec8p in the integration of different meiotic events are discussed...
  74. ncbi A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
    M Stefanini
    Consiglio Nazionale delle Richerche, Instituto di Genetica Biochemica Evoluzionistica, Pavia, Italy
    Am J Hum Genet 53:817-21. 1993
    ..The finding of a second DNA repair gene that is associated with the clinical features of TTD argues strongly for an involvement of repair proteins in hair-shaft development...
  75. ncbi p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair
    S Humbert
    UPR 6520 CNRS, Unité 184 INSERM, Faculte de Medecine, Strasbourg, France
    EMBO J 13:2393-8. 1994
    ..Both p44 and p34 possess zinc finger domains that may mediate BTF2 binding to nucleic acids...
  76. ncbi The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor
    L Schaeffer
    UPR 6520 CNRS, Unité 184 INSERM, Faculte de Medecine, Strasbourg, France
    EMBO J 13:2388-92. 1994
    ..This includes clinical features that lack an adequate rationalization on the basis of nucleotide excision repair (NER) deficiency but which may now be explained better in terms of a partial transcription deficiency...
  77. ncbi Interaction of hHR23 with S5a. The ubiquitin-like domain of hHR23 mediates interaction with S5a subunit of 26 S proteasome
    H Hiyama
    Institute for Molecular and Cellular Biology, Osaka University, 1 3 Yamada oka, Suita, Osaka 565 0871, Japan
    J Biol Chem 274:28019-25. 1999
    ..From these results, we propose that part of hHR23 proteins are involved in the proteolytic pathway in cells...
  78. ncbi Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
    W Vermeulen
    Department of Cell Biology and Genetics, Medical Genetics Center, Erasmus University Rotterdam, The Netherlands
    Nat Genet 26:307-13. 2000
    ..The reduction of TFIIH mainly affects its repair function and hardly influences transcription...