Mark O'Driscoll

Summary

Affiliation: University of Sussex
Country: UK

Publications

  1. ncbi request reprint Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest
    Pierre Marie Girard
    MRC Cell Mutation Unit, University of Sussex, Brighton, East Sussex, BN1 9RR, UK
    Oncogene 21:4191-9. 2002
  2. pmc Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
    Emily Outwin
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom
    PLoS Genet 7:e1002247. 2011
  3. pmc Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex, BN1 9RQ, UK
    Curr Genomics 9:137-46. 2008
  4. pmc Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome
    Tomoo Ogi
    Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki University, Sakamoto, Nagasaki, Japan
    PLoS Genet 8:e1002945. 2012
  5. pmc Understanding the impact of 1q21.1 copy number variant
    Chansonette Harvard
    Child and Family Research Institute, Molecular Cytogenetics and Array Laboratory, 950 West 28th Avenue, Vancouver, BC, Canada
    Orphanet J Rare Dis 6:54. 2011
  6. pmc Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, UK
    Am J Hum Genet 81:77-86. 2007
  7. doi request reprint TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 7:997-1003. 2008
  8. ncbi request reprint The role of double-strand break repair - insights from human genetics
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK
    Nat Rev Genet 7:45-54. 2006
  9. doi request reprint Mouse models for ATR deficiency
    Mark O'Driscoll
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 8:1333-7. 2009
  10. ncbi request reprint The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 7:1039-50. 2008

Collaborators

Detail Information

Publications59

  1. ncbi request reprint Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest
    Pierre Marie Girard
    MRC Cell Mutation Unit, University of Sussex, Brighton, East Sussex, BN1 9RR, UK
    Oncogene 21:4191-9. 2002
    ..We propose that Nbs1 facilitates ATM-dependent phosphorylation of multiple downstream substrates, including those required for G1/S arrest...
  2. pmc Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
    Emily Outwin
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom
    PLoS Genet 7:e1002247. 2011
    ..Our data identifies unanticipated defects in the DDR associated with duplications in 17p13.3 in humans involving modest RPA1 over-expression...
  3. pmc Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex, BN1 9RQ, UK
    Curr Genomics 9:137-46. 2008
    ..Finally, I will discuss the potential implications of a haploinsufficiency-induced defective DNA damage response for the clinical management of certain human genomic disorders...
  4. pmc Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome
    Tomoo Ogi
    Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki University, Sakamoto, Nagasaki, Japan
    PLoS Genet 8:e1002945. 2012
    ..Collectively, our analysis exposes an overlapping clinical manifestation between the disorders but allows an expanded spectrum of clinical features for ATR-ATRIP Seckel Syndrome to be defined...
  5. pmc Understanding the impact of 1q21.1 copy number variant
    Chansonette Harvard
    Child and Family Research Institute, Molecular Cytogenetics and Array Laboratory, 950 West 28th Avenue, Vancouver, BC, Canada
    Orphanet J Rare Dis 6:54. 2011
    ..Here we described the consequences of the 1q21.1 CNV on genome-wide gene expression and function of selected candidate genes within 1q21.1 using cell lines from clinically well described subjects...
  6. pmc Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, UK
    Am J Hum Genet 81:77-86. 2007
    ..The striking correlation of ATR-pathway dysfunction with the presence of microcephaly and growth delay strongly suggests a causal relationship...
  7. doi request reprint TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 7:997-1003. 2008
    ..Finally, using the example of Systemic Lupus Erythematosus (SLE), I also summarise the evidence suggesting that the failure to process intermediates of nucleic acid metabolism can result in the activation of uncontrolled autoimmunity...
  8. ncbi request reprint The role of double-strand break repair - insights from human genetics
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK
    Nat Rev Genet 7:45-54. 2006
    ..Dissection of the molecular basis that underlies the diverse clinical features is enhancing our understanding of the damage-response mechanisms and their role in development, and might ultimately facilitate treatment...
  9. doi request reprint Mouse models for ATR deficiency
    Mark O'Driscoll
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 8:1333-7. 2009
    ....
  10. ncbi request reprint The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 7:1039-50. 2008
    ..Here, we overview the DDR-defective disorders in the context of microcephaly and discuss a model underlying this striking phenotype...
  11. pmc ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling
    Thomas Stiff
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex, UK
    EMBO J 25:5775-82. 2006
    ..Our findings provide insight into the interplay between the PIKK damage response pathways...
  12. pmc Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1
    Tom Stiff
    Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK
    Hum Mol Genet 17:3247-53. 2008
    ..Replication-independent G2/M checkpoint arrest represents a suitable assay to specifically identify patients with defective ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1-dependent primary microcephaly...
  13. pmc Nbs1 is required for ATR-dependent phosphorylation events
    Tom Stiff
    Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
    EMBO J 24:199-208. 2005
    ..Our findings suggest that Nbs1 functions in both ATR- and ATM-dependent signalling. We propose that the NBS clinical features represent the result of these combined defects...
  14. doi request reprint Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, United Kingdom
    DNA Repair (Amst) 12:637-44. 2013
    ..Herein, we will describe the nature of the S phase defects uncovered for each of these conditions and highlight some of the overlapping cellular features. ..
  15. pmc Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome
    Tom Stiff
    Double Strand Break Repair Laboratory, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom
    PLoS Genet 9:e1003360. 2013
    ....
  16. ncbi request reprint A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
    Nat Genet 33:497-501. 2003
    ..d. below the mean) and dwarfism (5 s.d. below the mean). Our analysis shows that UV-induced ATR activation can occur in non-replicating cells following processing by nucleotide excision repair...
  17. ncbi request reprint Microcephalin: a causal link between impaired damage response signalling and microcephaly
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
    Cell Cycle 5:2339-44. 2006
    ..Recent studies will be reviewed and their relationship to the aetiology of microcephaly discussed...
  18. doi request reprint The impact of heterochromatin on DSB repair
    Aaron A Goodarzi
    Genome Damage and Stability Centre, University of Sussex, Brighton, UK
    Biochem Soc Trans 37:569-76. 2009
    ....
  19. ncbi request reprint A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci
    Enriqueta Riballo
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, United Kingdom
    Mol Cell 16:715-24. 2004
    ..The significant radiosensitivity of Artemis-deficient cells demonstrates the importance of this component of DSB repair to survival...
  20. pmc Sensitization to radiation and alkylating agents by inhibitors of poly(ADP-ribose) polymerase is enhanced in cells deficient in DNA double-strand break repair
    Dana A Löser
    Genome Damage and Stability Centre, University of Sussex, Falmer, United Kingdom
    Mol Cancer Ther 9:1775-87. 2010
    ....
  21. doi request reprint Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, East Sussex, BN1 9RQ, UK
    DNA Repair (Amst) 8:1139-52. 2009
    ..Finally, we will discuss how defects in the DDR result in some unexpected clinical features before describing how the nature of a DDR defect impacts on the management and treatment of individuals with these conditions...
  22. doi request reprint CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK
    Mech Ageing Dev 132:366-73. 2011
    ..In particular, mutations in CUL4B highlight a previously unappreciated role for CRL4's in neuronal function and cognition in humans...
  23. ncbi request reprint Regulation of mitotic entry by microcephalin and its overlap with ATR signalling
    Gemma K Alderton
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
    Nat Cell Biol 8:725-33. 2006
    ..Thus, MCPH1 also has an ATR-independent role in maintaining inhibitory Cdk1 phosphorylation, which prevents premature entry into mitosis...
  24. pmc Role of ATM and the damage response mediator proteins 53BP1 and MDC1 in the maintenance of G(2)/M checkpoint arrest
    Atsushi Shibata
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, United Kingdom
    Mol Cell Biol 30:3371-83. 2010
    ..The combined repair and checkpoint defects conferred by 53BP1 and MDC1 deficiency act synergistically to enhance chromosome breakage...
  25. ncbi request reprint Clinical impact of ATR checkpoint signalling failure in humans
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, UK
    Cell Cycle 2:194-5. 2003
  26. ncbi request reprint Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway
    Gemma K Alderton
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
    Hum Mol Genet 13:3127-38. 2004
    ..We conclude that Seckel syndrome represents a further damage response disorder that is uniquely associated with defects in the ATR-signalling pathway resulting in failed checkpoint arrest following exposure to replication fork stalling...
  27. doi request reprint Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK
    Hum Mol Genet 21:2181-93. 2012
    ..Delayed cell-cycle progression and impaired DNA replication likely underlie or contribute to microcephaly, pre- and postnatal growth retardation, which constitute the core clinical features of WHS...
  28. pmc DNA-PK autophosphorylation facilitates Artemis endonuclease activity
    Aaron A Goodarzi
    Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
    EMBO J 25:3880-9. 2006
    ..These findings demonstrate that DNA-PK autophosphorylation regulates Artemis access to DNA ends, providing insight into the mechanism of Artemis mediated DNA end processing...
  29. doi request reprint ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin
    Aaron A Goodarzi
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK
    Mol Cell 31:167-77. 2008
    ..These data suggest that the importance of ATM signaling for DSB repair increases as the heterochromatic component of a genome expands...
  30. pmc Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, University of Sussex, Brighton, UK
    Hum Mol Genet 19:1324-34. 2010
    ..Collectively, our findings highlight the interplay between CUL4A and CUL4B and provide insight into the pathogenesis of CUL4B-deficiency in humans...
  31. ncbi request reprint ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation
    Tom Stiff
    Genome Damage and Stability Centre, University of Sussex, East Sussex, United Kingdom
    Cancer Res 64:2390-6. 2004
    ..However, by phosphorylating H2AX, DNA-PK can contribute to the presence of the damage response proteins MDC1 and 53BP1 at the site of the DSB...
  32. doi request reprint The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer
    Rita Colnaghi
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom
    Semin Cell Dev Biol 22:875-85. 2011
    ..Finally, we will review some of the recent exciting developments surrounding specific CNVs and their contribution to cancer development as well as the latest model for cancer genome rearrangement; 'chromothripsis'...
  33. doi request reprint Risks from low dose/dose rate radiation: what an understanding of DNA damage response mechanisms can tell us
    Penny A Jeggo
    Genome Damage and Stability Centre, University of Sussex Brighton BN1 9RQ, UK
    Health Phys 97:416-25. 2009
    ..In summary, it is unlikely that the DDR mechanisms can fully protect cells from genomic rearrangements following exposure to low doses or dose rate radiation...
  34. ncbi request reprint Artemis links ATM to double strand break rejoining
    Penny A Jeggo
    Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
    Cell Cycle 4:359-62. 2005
    ..Our findings add a new dimension to the ATM signal transduction response demonstrating ATM-dependent regulation of an end-processing mechanism that functions during the cell cycle delay effected by ATM...
  35. ncbi request reprint Contribution of DNA repair and cell cycle checkpoint arrest to the maintenance of genomic stability
    Penny A Jeggo
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK
    DNA Repair (Amst) 5:1192-8. 2006
    ..ATM's checkpoint function has a bigger impact on genomic stability but strikingly the two damage response pathways co-operate in a more than additive manner. In contrast, ATM's repair function is important for survival post irradiation...
  36. ncbi request reprint Ku stimulation of DNA ligase IV-dependent ligation requires inward movement along the DNA molecule
    Boris Kysela
    Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, United Kingdom
    J Biol Chem 278:22466-74. 2003
    ..Taken together, our results suggest that, when LX binds to a Ku-bound DNA molecule, it causes inward translocation of Ku and that freedom to move inward on the DNA is essential to Ku stimulation of LX activity...
  37. ncbi request reprint The two edges of the ATM sword: co-operation between repair and checkpoint functions
    Markus Lobrich
    Fachrichtung Biophysik, Universitat des Saarlandes, Homburg Saar, Germany
    Radiother Oncol 76:112-8. 2005
    ..We suggest that ATM's strength as a damage response protein lies in the co-ordination of its repair and checkpoint functions making a razor sharp knife out of two blunter edges...
  38. doi request reprint UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB
    Claudia Kerzendorfer
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
    J Invest Dermatol 129:1611-3. 2009
    ..This potentially represents an important protective or therapeutic option from the most unlikely of sources: your daily coffee...
  39. ncbi request reprint LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition
    Lesley Hart
    Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, BN1 9RQ, UK
    Dis Model Mech 7:535-45. 2014
    ..Our findings identify novel cellular phenotypes in WHS attributable to a 50% reduction in LETM1 expression level; these phenotypes could underlie and/or contribute to some of the core clinical features of this condition. ..
  40. pmc XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation
    Enriqueta Riballo
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
    Nucleic Acids Res 37:482-92. 2009
    ..We propose a model in which XLF, by in situ recharging DNA ligase IV after the first ligation event, promotes double stranded ligation by a single LX complex...
  41. doi request reprint Genomic instability in cancer development
    Penny A Jeggo
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, UK
    Adv Exp Med Biol 570:175-97. 2005
  42. ncbi request reprint Immunological disorders and DNA repair
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RR, UK
    Mutat Res 509:109-26. 2002
    ....
  43. ncbi request reprint Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms
    Pierre Marie Girard
    Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK
    Hum Mol Genet 13:2369-76. 2004
    ..Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation...
  44. doi request reprint An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity
    Lisa Woodbine
    Genome Damage and Stability Centre, University of Sussex, Brighton, UK
    DNA Repair (Amst) 9:1003-10. 2010
    ..512C > G-Artemis expression showed immunodeficiency only in adulthood, developed bilateral carcinoma of the nipple and myelodysplasia raising the possibility that modestly decreased Artemis function can impact clinically...
  45. ncbi request reprint Potential role for 53BP1 in DNA end-joining repair through direct interaction with DNA
    Kuniyoshi Iwabuchi
    Department of Biochemistry, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Kahoku gun, Ishikawa 920 0293, Japan
    J Biol Chem 278:36487-95. 2003
    ..This domain also stimulated end-joining by DNA ligase IV/Xrcc4, but not by T4 DNA ligase in vitro. We conclude that 53BP1 has the potential to participate directly in the repair of DNA double-strand breaks...
  46. pmc Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
    Elen Griffith
    Medical Research Council MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Nat Genet 40:232-6. 2008
    ..These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental pathways determining human brain and body size...
  47. ncbi request reprint The impact of a negligent G2/M checkpoint on genomic instability and cancer induction
    Markus Lobrich
    Darmstadt University of Technology, Radiation Biology and DNA Repair, 64287 Darmstadt, Germany
    Nat Rev Cancer 7:861-9. 2007
    ..Here, we consider the impact of a negligent G2/M checkpoint on genomic stability and cancer risk...
  48. ncbi request reprint Identification of a DNA nonhomologous end-joining complex in bacteria
    Geoffrey R Weller
    Cambridge Institute for Medical Research and Department of Haematology, University of Cambridge, Hills Road, Cambridge CB2 2XY, UK
    Science 297:1686-9. 2002
    ....
  49. pmc Chk2 is a tumor suppressor that regulates apoptosis in both an ataxia telangiectasia mutated (ATM)-dependent and an ATM-independent manner
    Atsushi Hirao
    Department of Medical Biophysics, Ontario Cancer Institute, University of Toronto, Ontario M5G 2C1, Canada
    Mol Cell Biol 22:6521-32. 2002
    ..ATR may thus selectively contribute to p53-mediated apoptosis. These data indicate that distinct pathways regulate the activation of p53 leading to cell cycle arrest or apoptosis...
  50. ncbi request reprint Radiation-induced delayed cell death in a hypomorphic Artemis cell line
    Paul M Evans
    Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Hum Mol Genet 15:1303-11. 2006
    ..F96-224 therefore represents a novel phenotype for a hypomorphic cell line. We suggest that delayed cell death contributes to the progressive CID phenotype of the Artemis patient...
  51. ncbi request reprint Harmonising the response to DSBs: a new string in the ATM bow
    Markus Lobrich
    Fachrichtung Biophysik, Universitat des Saarlandes, D 66421 Homburg Saar, Germany
    DNA Repair (Amst) 4:749-59. 2005
    ..This result represents a new role for ATM and demonstrates a novel cross communication between the DNA repair and signal transduction machinery...
  52. ncbi request reprint A double-strand break repair defect in ATM-deficient cells contributes to radiosensitivity
    Martin Kühne
    Fachrichtung Biophysik, Universitat des Saarlandes, Homburg Saar, Germany
    Cancer Res 64:500-8. 2004
    ..These data argue that the DSB repair defect underlies a significant component of the radiosensitivity of AT cells...
  53. ncbi request reprint Healing the wounds inflicted by sleeping beauty transposition by double-strand break repair in mammalian somatic cells
    Zsuzsanna Izsvák
    Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, D 13092 Berlin, Germany
    Mol Cell 13:279-90. 2004
    ..The overlapping but distinct roles of repair factors in transposition and in V(D)J recombination might influence the outcomes of these mechanistically similar processes...
  54. ncbi request reprint Interaction of the Ku heterodimer with the DNA ligase IV/Xrcc4 complex and its regulation by DNA-PK
    Silvia Costantini
    International Centre for Genetic Engineering and Biotechnology, Padriciano 99, I 34012 Trieste, Italy
    DNA Repair (Amst) 6:712-22. 2007
    ..Here, we show that DNA-PK kinase activity also results in disassembly of the Ku/DNA ligase IV/Xrcc4 complex. Collectively, our findings provide novel information on the protein-protein interactions that regulate NHEJ in cells...
  55. ncbi request reprint An imperfect G2M checkpoint contributes to chromosome instability following irradiation of S and G2 phase cells
    Andrea Krempler
    Fachrichtung Biophysik, Universitat des Saarlandes, Homburg Saar, Germany
    Cell Cycle 6:1682-6. 2007
    ....
  56. pmc Phosphorylation of linker histones by DNA-dependent protein kinase is required for DNA ligase IV-dependent ligation in the presence of histone H1
    Boris Kysela
    Genome Damage and Stability Center, University of Sussex, Brighton BN1 9RQ, United Kingdom
    Proc Natl Acad Sci U S A 102:1877-82. 2005
    ..Thus, by using histone H1-bound DNA as a template, we have reconstituted the end-joining step of DNA nonhomologous end-joining in vitro with a requirement for DNA-PK...
  57. ncbi request reprint X-irradiation of cells on glass slides has a dose doubling impact
    Peter Kegel
    Fachrichtung Biophysik, Universitat des Saarlandes, 66421 Homburg Saar, Germany
    DNA Repair (Amst) 6:1692-7. 2007
    ....
  58. ncbi request reprint Bone marrow transplantation for Nijmegan breakage syndrome
    Andrew R Gennery
    J Pediatr Hematol Oncol 27:239. 2005