Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome

Molecular Immunology

Volumn 37, Issue 15, 2000, Pages 915-929

  Harfst, Eva ^a   Cooper, Suzanne ^a   Neubauer, Susann ^b   Distel, Luitpold ^b   Grawunder, Ulf ^a  

^a BASEL INSTITUTE FOR IMMUNOLOGY   (Switzerland)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

DNA repair; Nijmegen breakage syndrome; V(D)J recombination

Indexed keywords

DNA DEPENDENT PROTEIN KINASE; DOUBLE STRANDED DNA; IMMUNOGLOBULIN KAPPA CHAIN; IMMUNOGLOBULIN LAMBDA CHAIN; LYMPHOCYTE ANTIGEN RECEPTOR; POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

ARTICLE; CHROMOSOME ABERRATION; CONTROLLED STUDY; DNA CLEAVAGE; DNA REPAIR; DNA STRAND BREAKAGE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; NIJMEGEN BREAKAGE SYNDROME; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL;

MAMMALIA;

EID: 0035085624     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-5890(01)00008-6     Document Type: Article

References (52)

1. RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination
2. Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines
3. Hairpin coding end opening is mediated by RAG1 and RAG2 proteins
4. Fibroblasts from ataxia telangiactasia (AT) and AT heterozygous show enhanced levels of residual DNA double-strand breaks after low dose-rate g-irradiation as assayed by pulsed field gel electrophoresis
5. Components of the Ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing
6. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
7. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV
8. Nijmegen breakage syndrome: Consequences of defective DNA double strand break repair
9. Molecular mechanisms and selection influence the generation of the human VlJl repertoire
10. Hypersensitivity of ataxia telangiactasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks
11. Molecular Mechanisms and selective influences shape the kappa gene repertoire of IgM+ B cells
12. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV
13. A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination
14. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
15. Unequal signal and coding joint formation in human V(D)J recombination
16. V(D)J recombination activity in human hematopoietic cells: Correlation with developmental stage and genome stability
17. Mice lacking TdT: Mature animals with an immature lymphocyte repertoire
18. The half-life of RAG-1 protein in precursor B cells is increased in the absence of RAG-2 expression
19. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
20. DNA ligase IV is essential for V(D)J recombination and DNA double- strand break repair in human precursor lymphocytes
21. Growth retardation and leaky SCID phenotype of Ku70-deficient mice
22. Extrachromosomal DNA substrates in pre-B cells undergo inversion or deletion at immunoglobulin V-(D)-J joining signals
23. V(D)J recombination in Ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder
24. Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation
25. Lack of N regions in antigen receptor variable region genes of TdT-deficient lymphocytes
26. Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts
27. Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation
28. hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks
29. Positional cloning of the gene for Nijmegen breakage syndrome
30. Cleavage at the V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps
31. Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae
32. A routine method for the establishment of permanent growing lymphoblastoid cell lines
33. In situ visualization of DNA double-strand break repair in human fibroblasts
34. Is chromosome in situ suppression (CISS) hybridization suited as a predictive test for intrinsic radiosensitivity in cancer patients?
35. Requirement for Ku80 in growth and immunoglobulin V(D)J recombination
36. Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex
37. V(D)J recombination: Broken DNA molecules with covalently sealed (hairpin) coding end in scid mouse thymocytes
38. Expression and V(D)J recombination activity of mutated RAG-1 proteins
39. Definition of a core region of RAG-2 that is functional in V(D)J recombination
40. Classification and relationship of induced chromosomal structural changes
41. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
42. DNA hairpin opening mediated by the RAG1 and RAG2 proteins
43. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
44. Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity
45. Somatic generation of antibody diversity
46. Initiation of V(D)J recombination in a cell-free system
47. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
48. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response
49. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells
50. Mre11 is essential for the maintenance of chromosomal DNA in vertebrate cells
51. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products
52. Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates