N G Jaspers

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. pmc Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
    Maria Kraakman-van der Zwet
    Department of Radiation Genetics and Chemical Mutagenesis MGC, Leiden University Medical Center, The Netherlands
    Mol Cell Biol 22:669-79. 2002
  2. pmc Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
    Katsuyoshi Horibata
    Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 101:15410-5. 2004
  3. ncbi request reprint Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
    Nicolaas G J Jaspers
    Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    DNA Repair (Amst) 1:1027-38. 2002
  4. ncbi request reprint Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies
    N G Jaspers
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Cytokines Mol Ther 2:115-9. 1996
  5. pmc 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
  6. ncbi request reprint 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
  7. pmc 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
  8. pmc 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
  9. ncbi request reprint Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease
    A M Sijbers
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Invest Dermatol 110:832-6. 1998
  10. pmc 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

Collaborators

  • J H Hoeijmakers
  • W J Kleijer
  • L Ma
  • G Weeda
  • Trevor C McMorris
  • Seema R Lalani
  • A R Lehmann
  • Isao Kuraoka
  • Thierry P Nouspikel
  • Jeroen Essers
  • Lisa D McDaniel
  • Jan Vijg
  • Roland Kanaar
  • Richard D Wood
  • George A Garinis
  • Claire Wyman
  • Michael Kelner
  • LAURA JANE NIEDERNHOFER
  • Alain Sarasin
  • Fumio Hanaoka
  • Anja Raams
  • Wim Vermeulen
  • Devashish Das
  • Konstantinos Tripsianes
  • Jaan Olle Andressoo
  • Anu Anttinen
  • A M Sijbers
  • Steven Bergink
  • Robert Kaptein
  • Rolf Boelens
  • Barbara C Godthelp
  • Mirjam van der Burg
  • Marcel Volker
  • Deborah Hoogstraten
  • Kazuhiko Nakabayashi
  • Therina Theron
  • Miria Stefanini
  • Elena Botta
  • Fabrizio Thorel
  • Paul P W van Buul
  • Annemarie van Duijn-Goedhart
  • Katsuyoshi Horibata
  • Malgorzata Z Zdzienicka
  • Giuseppina Giglia-Mari
  • W Vermeulen
  • Peter T Bosma
  • Maria Kraakman-van der Zwet
  • Vincent van den Boom
  • Bernard C Broughton
  • P J van der Spek
  • A Raams
  • Timo Kurki
  • Jonathan F Wing
  • Michael H L Green
  • Matti Erkinjuntti
  • Gert E Folkers
  • Leena Koulu
  • Reijo J Marttila
  • Eeva Nikoskelainen
  • Colin F Arlett
  • Raija Portin
  • E Appeldoorn
  • H Odijk
  • Ewoud Speksnijder
  • Dik C van Gent
  • Jan de Wit
  • Wendy Toussaint
  • Judith Jans
  • Wouter W Wiegant
  • Nicole S Verkaik
  • W L de Laat
  • James R Mitchell
  • Elhaam Elghalbzouri-Maghrani
  • MaƂgorzata Z Zdzienicka
  • Harry van Steeg
  • Nico G Hartwig
  • Linda Brugmans
  • Chris I De Zeeuw
  • Fre Arwert
  • Gijsbertus T J van der Horst
  • Barbara H Barendregt
  • Hans Joenje
  • Lieneke R van Veelen
  • Rudolph B Beems
  • Jacques J M van Dongen
  • Stephen W Scherer
  • Simone Gentles
  • Renata Rizzo
  • Charles E Jackson
  • Clifford Les

Detail Information

Publications30

  1. pmc Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
    Maria Kraakman-van der Zwet
    Department of Radiation Genetics and Chemical Mutagenesis MGC, Leiden University Medical Center, The Netherlands
    Mol Cell Biol 22:669-79. 2002
    ....
  2. pmc Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
    Katsuyoshi Horibata
    Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 101:15410-5. 2004
    ..Possible explanations for the discrepancy in the genotype-phenotype relationship in UVs1KO are presented...
  3. ncbi request reprint Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
    Nicolaas G J Jaspers
    Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    DNA Repair (Amst) 1:1027-38. 2002
    ..We show that the semisynthetic illudin derivative hydroxymethylacylfulvene (HMAF, Irofulven), currently under clinical trial for anti-tumour therapy, acts via the same mechanism...
  4. ncbi request reprint Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies
    N G Jaspers
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Cytokines Mol Ther 2:115-9. 1996
    ..These multiple functions are likely to be the basis of the complex symptomatology of XP, CS and PIBIDS. Specific gene-targeted mouse models will probably help to solve these intricacies...
  5. pmc 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)..
  6. ncbi request reprint 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...
  7. pmc 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...
  8. pmc 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...
  9. ncbi request reprint Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease
    A M Sijbers
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    J Invest Dermatol 110:832-6. 1998
    ..Biochemical, genetic, and clinical data all indicate the presence of considerable residual repair activity, strongly suggesting that the R788W mutation is leaky...
  10. pmc 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...
  11. pmc Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome
    Therina Theron
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom
    Mol Cell Biol 25:8368-78. 2005
    ....
  12. pmc Dynamics of relative chromosome position during the cell cycle
    Jeroen Essers
    Department of Cell Biology and Genetics, Erasmus Medical Center, 3000 DR Rotterdam, The Netherlands
    Mol Biol Cell 16:769-75. 2005
    ..However, the daughter cells eventually regain the general chromosomal organization pattern of their mothers, suggesting an active mechanism could be at play to reestablish chromosomal neighborhoods...
  13. ncbi request reprint When machines get stuck--obstructed RNA polymerase II: displacement, degradation or suicide
    Vincent van den Boom
    Department of Cell Biology and Genetics, Medical Genetic Center, Erasmus University Rotterdam, The Netherlands
    Bioessays 24:780-4. 2002
    ..The identification and characterisation of a novel protein co-purifying with the yeast homologue of CSB (Rad26) imposes reassessment of our current understanding of TCR in yeast. What about humans?..
  14. ncbi request reprint Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2
    Barbara C Godthelp
    Department of Toxicogenetics, Leiden University Medical Center, Building 2, Postzone S 6 P, 2300 RC, Leiden, The Netherlands
    Mutat Res 601:191-201. 2006
    ....
  15. ncbi request reprint Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 26:980-4. 2006
    ..Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome...
  16. ncbi request reprint A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
    Laura J Niedernhofer
    Center for Biomedical Genetics Medical Genetic Center Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nature 444:1038-43. 2006
    ....
  17. pmc First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 80:457-66. 2007
    ..This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1...
  18. ncbi request reprint Regulation of UV-induced DNA damage response by ubiquitylation
    Steven Bergink
    MGC CBG Department of Cell Biology and Genetics, Erasmus MC, P O Box 2040, 3000CA Rotterdam, The Netherlands
    DNA Repair (Amst) 6:1231-42. 2007
    ..We discuss the implications of these modifications to allow swift adaptation and regulation of genome surveillance factors...
  19. ncbi request reprint Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Prenat Diagn 27:1133-7. 2007
    ..Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977...
  20. ncbi request reprint The HhH domain of the human DNA repair protein XPF forms stable homodimers
    Devashish Das
    Bijvoet Center for Biomolecular Research, Utrecht University, 3584 CH Utrecht, The Netherlands
    Proteins 70:1551-63. 2008
    ..The XPF HhH homodimer has a larger interaction interface, aromatic stacking interactions, and additional hydrogen bond contacts as compared to the XPF/ERCC1 HhH complex, which accounts for its higher stability...
  21. ncbi request reprint An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
    Jaan Olle Andressoo
    Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Cancer Cell 10:121-32. 2006
    ..Like CS fibroblasts, XPCS and TTD fibroblasts from human and mouse showed evidence of defective repair of oxidative DNA lesions that may underlie these segmental progeroid symptoms...
  22. ncbi request reprint Inhibition of DNA synthesis by ionizing radiation: a marker for an S-phase checkpoint
    Nicolaas G J Jaspers
    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Methods Mol Biol 314:51-9. 2006
    ..Here a simple, accurate and highly reproducible experimental protocol is presented for the generation of DNA synthesis inhibition curves from cells in culture...
  23. pmc A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
    Mirjam van der Burg
    Department of Immunology and Department of Cell Biology and Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Clin Invest 116:137-45. 2006
    ..In conclusion, different LIG4 mutations can result in either a developmental defect with minor immunological abnormalities or a SCID picture with normal development...
  24. ncbi request reprint The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair
    Konstantinos Tripsianes
    Department of NMR Spectroscopy, Bijvoet Center for Biomolecular Research, Utrecht University, Padualaan 8, 3584 CH Utrecht, The Netherlands
    Structure 13:1849-58. 2005
    ..On the basis of these findings, we propose a model for the targeting of XPF nuclease via ERCC1-mediated interactions in the context of nucleotide excision repair...
  25. pmc Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
    Kazuhiko Nakabayashi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Am J Hum Genet 76:510-6. 2005
    ..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair...
  26. pmc Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients
    Bernard C Broughton
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RR, United Kingdom
    Proc Natl Acad Sci U S A 99:815-20. 2002
    ..There is a wide variability in clinical features among patients, which is not obviously related to the site or type of mutation...
  27. pmc Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
    Fabrizio Thorel
    Department of Microbiology and Molecular Medicine, University Medical Centre, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mol Cell Biol 24:10670-80. 2004
    ..This observation has potential implications that extend beyond nucleotide excision repair...
  28. ncbi request reprint A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
    Giuseppina Giglia-Mari
    Department of Genetics, Medical Genetic Cluster, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Genet 36:714-9. 2004
    ..The identification of a new evolutionarily conserved subunit of TFIIH implicated in TTD-A provides insight into TFIIH function in transcription, DNA repair and human disease...
  29. ncbi request reprint Functional cloning of drug resistance genes from retroviral cDNA libraries
    Peter T Bosma
    Department of Medical Oncology, Josephine Nefkens Institute, 3000 DR Rotterdam, The Netherlands
    Biochem Biophys Res Commun 309:605-11. 2003
    ....
  30. doi request reprint Neurological symptoms and natural course of xeroderma pigmentosum
    Anu Anttinen
    Department of Neurology, Turku University Central Hospital, PB 52, 20521 Turku, Finland
    Brain 131:1979-89. 2008
    ....