chromosome breakage

Summary

Summary: A type of chromosomal aberration which may result from spontaneous or induced breakage. ALKYLATING AGENTS and other chemical MUTAGENS, and various types of RADIATION have been found to cause chromosomal breakage. Breakage can result in translocation; CHROMOSOME INVERSION; or SEQUENCE DELETION.

Top Publications

  1. pmc Unrepaired clustered DNA lesions induce chromosome breakage in human cells
    Aroumougame Asaithamby
    Division of Molecular Radiation Biology, Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 108:8293-8. 2011
  2. pmc Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair
    Nicole Bennardo
    Department of Radiation Biology, Beckman Research Institute of City of Hope, Duarte, California, United States of America
    PLoS Genet 4:e1000110. 2008
  3. pmc Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites
    Martin F Arlt
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    DNA Repair (Amst) 9:678-89. 2010
  4. ncbi ATM and related protein kinases: safeguarding genome integrity
    Yosef Shiloh
    The David and Inez Myers Laboratory for Genetic Research, Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Nat Rev Cancer 3:155-68. 2003
  5. ncbi Chromosome fragility: molecular mechanisms and cellular consequences
    Catherine H Freudenreich
    Department of Biology and Program in Genetics, Tufts University, Medford, MA 02155, USA
    Front Biosci 12:4911-24. 2007
  6. pmc Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites
    Eliane El Achkar
    Institut Curie, Centre National de la Recherche Scientifique CNRS, Universite Pierre et Marie Curie, Unité Mixte de Recherche 7147, Paris, France
    Proc Natl Acad Sci U S A 102:18069-74. 2005
  7. ncbi BRCA2 is required for homology-directed repair of chromosomal breaks
    M E Moynahan
    Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
    Mol Cell 7:263-72. 2001
  8. doi A method to produce radiation hybrids for the D-genome chromosomes of wheat (Triticum aestivum L.)
    O Riera-Lizarazu
    Department of Crop and Soil Science, Oregon State University, Corvallis, OR 97331 3002, USA
    Cytogenet Genome Res 129:234-40. 2010
  9. pmc Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences
    Jia Lin Ma
    Department of Molecular Medicine, Institute of Biotechnology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas 78245, USA
    Mol Cell Biol 23:8820-8. 2003
  10. ncbi Transpositions and translocations induced by site-specific double-strand breaks in budding yeast
    James E Haber
    MS029 Rosenstiel Center and Department of Biology, Brandeis University, Waltham, MA 02454 9110, USA
    DNA Repair (Amst) 5:998-1009. 2006

Research Grants

  1. DNA REPLICATION AND CHROMOSOME STRUCTURE IN YEAST
    Virginia A Zakian; Fiscal Year: 2010
  2. Sperm DNA damage in fertilization
    MONIKA WARD; Fiscal Year: 2005
  3. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    JANET M STAVNEZER; Fiscal Year: 2010
  4. Sperm DNA damage in fertilization
    MONIKA WARD; Fiscal Year: 2006
  5. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    JANET M STAVNEZER; Fiscal Year: 2010
  6. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2009
  7. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2007
  8. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2006
  9. PHENYTOIN PATHOGENESIS OF GINGIVAL OVERGROWTH
    Thomas Hassell; Fiscal Year: 1990
  10. RADIATION CYTOGENETICS
    Joel Bedford; Fiscal Year: 1993

Detail Information

Publications277 found, 100 shown here

  1. pmc Unrepaired clustered DNA lesions induce chromosome breakage in human cells
    Aroumougame Asaithamby
    Division of Molecular Radiation Biology, Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 108:8293-8. 2011
    ..Difficulties associated with clustered DNA damage repair and checkpoint release before the completion of clustered DNA damage repair appear to promote genome instability that may lead to carcinogenesis...
  2. pmc Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair
    Nicole Bennardo
    Department of Radiation Biology, Beckman Research Institute of City of Hope, Duarte, California, United States of America
    PLoS Genet 4:e1000110. 2008
    ..However, at later steps of repair, alt-NHEJ is a mechanistically distinct pathway of DSB repair, and thus may play a unique role in mutagenesis during cancer development and therapy...
  3. pmc Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites
    Martin F Arlt
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    DNA Repair (Amst) 9:678-89. 2010
    ..These data from cultured human cells demonstrate that topoisomerase I activity is required for DNA common fragile site breaks and suggest that polymerase-helicase uncoupling is a key initial event in this process...
  4. ncbi ATM and related protein kinases: safeguarding genome integrity
    Yosef Shiloh
    The David and Inez Myers Laboratory for Genetic Research, Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Nat Rev Cancer 3:155-68. 2003
    ..Understanding ATM's mode of action provides new insights into the association between defective responses to DNA damage and cancer, and brings us closer to resolving the issue of cancer predisposition in some A-T carriers...
  5. ncbi Chromosome fragility: molecular mechanisms and cellular consequences
    Catherine H Freudenreich
    Department of Biology and Program in Genetics, Tufts University, Medford, MA 02155, USA
    Front Biosci 12:4911-24. 2007
    ..An understanding of these events will provide insight into the generation of cancer, since deletions and rearrangements at human common fragile sites and associated tumor suppressor genes are an early event in tumorigenesis...
  6. pmc Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites
    Eliane El Achkar
    Institut Curie, Centre National de la Recherche Scientifique CNRS, Universite Pierre et Marie Curie, Unité Mixte de Recherche 7147, Paris, France
    Proc Natl Acad Sci U S A 102:18069-74. 2005
    ....
  7. ncbi BRCA2 is required for homology-directed repair of chromosomal breaks
    M E Moynahan
    Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
    Mol Cell 7:263-72. 2001
    ..We propose that impaired homology-directed repair caused by BRCA2 deficiency leads to chromosomal instability and, possibly, tumorigenesis, through lack of repair or misrepair of DNA damage...
  8. doi A method to produce radiation hybrids for the D-genome chromosomes of wheat (Triticum aestivum L.)
    O Riera-Lizarazu
    Department of Crop and Soil Science, Oregon State University, Corvallis, OR 97331 3002, USA
    Cytogenet Genome Res 129:234-40. 2010
    Radiation hybrid (RH) mapping is based on radiation-induced chromosome breakage rather than meiotic recombination, as a means to induce marker segregation for mapping...
  9. pmc Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences
    Jia Lin Ma
    Department of Molecular Medicine, Institute of Biotechnology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas 78245, USA
    Mol Cell Biol 23:8820-8. 2003
    ..The increased gamma ray sensitivity of rad1Delta rad52Delta yku70Delta strains compared to rad52Delta yku70Delta strains suggests that MMEJ also contributes to the repair of DSBs induced by ionizing radiation...
  10. ncbi Transpositions and translocations induced by site-specific double-strand breaks in budding yeast
    James E Haber
    MS029 Rosenstiel Center and Department of Biology, Brandeis University, Waltham, MA 02454 9110, USA
    DNA Repair (Amst) 5:998-1009. 2006
    ..These rearrangements can occur from ectopic gene conversions accompanied by crossing-over, break-induced replication, single-strand annealing or non-homologous end-joining...
  11. pmc An AT-rich sequence in human common fragile site FRA16D causes fork stalling and chromosome breakage in S. cerevisiae
    Haihua Zhang
    Department of Biology, Tufts University, Medford, MA 02155, USA
    Mol Cell 27:367-79. 2007
    ..Our data suggest that the FRA16D Flex1 sequence causes increased chromosome breakage by forming secondary structures that stall replication fork progression.
  12. ncbi The limitations of the G1-S checkpoint
    Dorothee Deckbar
    Radiation Biology and DNA Repair, Darmstadt University of Technology, Darmstadt, Germany
    Cancer Res 70:4412-21. 2010
    ....
  13. ncbi ATM stabilizes DNA double-strand-break complexes during V(D)J recombination
    Andrea L Bredemeyer
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nature 442:466-70. 2006
    ....
  14. doi SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination
    Alix Kerrest
    Institut Pasteur, Unité de Génétique Moléculaire des Levures, CNRS, URA2171, Universite Pierre et Marie Curie, UFR 927, 25 rue du Dr Roux, F 75015 Paris, France
    Nat Struct Mol Biol 16:159-67. 2009
    ..In the absence of Srs2 or Sgs1, DNA damage accumulates and is processed by homologous recombination, triggering repeat rearrangements...
  15. pmc Centromere replication timing determines different forms of genomic instability in Saccharomyces cerevisiae checkpoint mutants during replication stress
    Wenyi Feng
    Department of Genome Sciences, University of Washington, Box 355065 Foege Bldg, Room S041, 1705 NE Pacific St, Seattle, Washington 98195, USA
    Genetics 183:1249-60. 2009
    ..Our results highlight the importance of replicating yeast centromeres early and reveal different mechanisms of cell death due to differences in replication fork progression...
  16. pmc High-resolution radiation hybrid map of wheat chromosome 1D
    Venu Kalavacharla
    Department of Bioscience and Biotechnology, Drexel University, Philadelphia, Pennsylvania 19141, USA
    Genetics 173:1089-99. 2006
    ..To date, this is the highest resolution that has been obtained by plant RH mapping and serves as a first step for the development of RH resources in wheat...
  17. ncbi Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation
    Elzbieta Kowalska
    Centre for Research in Women s Health, 790 Bay Street, Toronto, Ontario, Canada, M5G 1N8
    Cancer Epidemiol Biomarkers Prev 14:1302-6. 2005
    ..40 versus 0.39). Oral selenium is a good candidate for chemoprevention in women who carry a mutation in the BRCA1 gene...
  18. pmc Dicentric breakage at telomere fusions
    Sabrina Pobiega
    Commissariat a l Energie Atomique, Direction des Sciences du Vivant, Institut de Radiobiologie Cellulaire et Moleculaire, Service Instabilité Génétique Réparation et Recombinaison, Laboratoire Télmère et Réparation du Chromosome, Fontenay aux roses 92260, France
    Genes Dev 24:720-33. 2010
    ..This unforeseen result suggests a rescue pathway able to process telomere fusions and to back up NHEJ inhibition at telomeres...
  19. pmc Human chromosomal translocations at CpG sites and a theoretical basis for their lineage and stage specificity
    Albert G Tsai
    Norris Comprehensive Cancer Center, University of Southern California Keck School of Medicine, 1441 Eastlake Avenue, MC9176, Los Angeles, CA 90089 9176, USA
    Cell 135:1130-42. 2008
    ....
  20. ncbi Are aneuploidy and chromosome breakage caused by a CINgle mechanism?
    Carlos Martinez-A
    Department of Immunology and Oncology, Centro Nacional de Biotecnologia CSIC, Madrid, Spain
    Cell Cycle 9:2275-80. 2010
    ..Since a poorly controlled spindle can cause merotelic attachments, kinetochore distortion, and subsequent chromosome breakage, spindle defects can generate the sticky ends necessary to start a breakage-fusion-bridge cycle...
  21. ncbi The pattern of gene amplification is determined by the chromosomal location of hairpin-capped breaks
    Vidhya Narayanan
    School of Biology and Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA 30332, USA
    Cell 125:1283-96. 2006
    ..The rules for the palindrome-dependent pathway of gene amplification defined in yeast may operate during the formation of amplicons in human tumors...
  22. doi Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening
    Sarantis Gagos
    Laboratory of Genetics, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
    Cancer Res 68:8146-55. 2008
    ..These observations are important in understanding the global genomic instability that characterizes most human advanced malignancies...
  23. ncbi Ejaculated and epididymal mouse spermatozoa are different in their susceptibility to nuclease-dependent DNA damage and in their nuclease activity
    Yasuhiro Yamauchi
    Institute for Biogenesis Research, University of Hawaii Medical School, Honolulu, Hawaii 96822, USA
    Biol Reprod 77:636-47. 2007
    ..This nuclease activity was detected both in the sperm-free fraction of preparations and isolated sperm...
  24. ncbi Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
    Andrew J Sharp
    Department of Genome Sciences and the Howard Hughes Medical Institute, University of Washington School of Medicine, 1705 NE Pacific St, Seattle, Washington 98195, USA
    Nat Genet 38:1038-42. 2006
    ..In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions...
  25. pmc Chromosome breakage after G2 checkpoint release
    Dorothee Deckbar
    Fachrichtung Biophysik, Universitat des Saarlandes, 66421 Homburg Saar, Germany
    J Cell Biol 176:749-55. 2007
    ..This represents a major contribution to chromosome breakage. The presence of chromosome breaks in cells released from checkpoint arrest suggests that release occurs ..
  26. ncbi Role of haemoglobin in the protection of cultured lymphocytes against diepoxybutane (DEB), assessed by in vitro induced chromosome breakage
    Beatriz Porto
    Laboratory of Cytogenetics, Instituto Ciências Biomédicas Abel Salazar ICBAS, Largo do Prof Abel Salazar, No 2, 4099 003, Porto, Portugal
    Mutat Res 536:61-7. 2003
    ..influence of individual GSTM1 and GSTT1 genotypes and the presence of RBC on the frequency of DEB-induced chromosome breakage in lymphocyte cultures from normal individuals and, in particular, the influence of isolated components of ..
  27. pmc Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
    S E Roberts
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Am J Hum Genet 73:1061-72. 2003
    ..This suggests that multiple mechanisms are involved in the formation of large SMC(15)s...
  28. pmc Irreparable complex DNA double-strand breaks induce chromosome breakage in organotypic three-dimensional human lung epithelial cell culture
    Aroumougame Asaithamby
    Division of Molecular Radiation Biology, Department of Radiation Oncology, University of Texas, Southwestern Medical Centre, Dallas, TX 75390, USA
    Nucleic Acids Res 39:5474-88. 2011
    ..Our data suggest that downregulation of multiple DNA repair pathway genes in differentiated cells renders them vulnerable to DSBs, promoting genome instability that may lead to carcinogenesis...
  29. ncbi Differential usage of non-homologous end-joining and homologous recombination in double strand break repair
    Eiichiro Sonoda
    Radiation Genetics, Graduate School of Medicine, Kyoto University, Konoe Yoshida, Kyoto 606 8501, Japan
    DNA Repair (Amst) 5:1021-9. 2006
    ..This active NHEJ requires a regulatory mechanism to choose HR or NHEJ in vertebrate cells. In this review, we illustrate how HR and NHEJ are differentially regulated depending on the phase of cell cycle and on the nature of the DSB...
  30. ncbi Template switching during break-induced replication
    Catherine E Smith
    Department of Microbiology, Columbia University Medical Center, 701 West 168th Street, New York, New York 10032, USA
    Nature 447:102-5. 2007
    ..This dynamic process could function to promote gene conversion by capture of the displaced invading strand at two-ended DSBs to prevent BIR...
  31. pmc Epigenetic control of chromosome breakage at the 5' end of Paramecium tetraurelia gene A
    Laurence Amar
    UMR 8080, IBAIC, Bat 444, 91405 Orsay Cedex, France
    Eukaryot Cell 3:1136-46. 2004
    ..We propose that the d48 factor(s) may be derived from RNA molecules transcribed from the Ad48 Mac ends and encompassing the truncated A gene and telomeric repeats...
  32. ncbi Chromosome breakage syndromes and cancer
    Nahum J Duker
    Laboratory Medicine, Fels Institute for Cancer Research and Molecular Biology, Philadelphia, PA 19140, USA
    Am J Med Genet 115:125-9. 2002
    ..Each defect involves a separate protein in these complex pathways...
  33. ncbi Chromosome fragmentation after induction of a double-strand break is an active process prevented by the RMX repair complex
    Kirill Lobachev
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, 101 Alexander Drive, Research Triangle Park, NC 27709 USA
    Curr Biol 14:2107-12. 2004
    ..Thus, the RMX complex holds broken ends together and counteracts mitotic spindle forces that can be destructive to damaged chromosomes...
  34. pmc Chromosome breakage is regulated by the interaction of the BLM helicase and topoisomerase IIalpha
    Beatriz Russell
    Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University College of Medicine, Columbus, Ohio 45229, USA
    Cancer Res 71:561-71. 2011
    ..Deletion of the interaction domain from BLM fails to correct the elevated chromosome breakage of transfected BLM-deficient cells...
  35. ncbi Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
    Shaun S Abeysinghe
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mutat 22:229-44. 2003
    ..Our results are therefore consistent with a role for homologous unequal recombination in deletion mutagenesis and a role for nonhomologous recombination in the generation of translocations...
  36. doi Tp53 codon-72 polymorphisms identify different radiation sensitivities to g2-chromosome breakage in human lymphoblast cells
    Jeffrey L Schwartz
    Department of Radiation Oncology, University of Washington Medical Center, Seattle, Washington, USA
    Environ Mol Mutagen 52:77-80. 2011
    ..Distinguishing the effect of TP53 codon-72 variations from other modifiers of G2-chromosome radiosensitivity might aid in identifying new markers of cancer risk...
  37. ncbi Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation
    M E Moynahan
    Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
    Cancer Res 61:4842-50. 2001
    ..We conclude that the inability to properly repair strand breaks by homology-directed repair gives rise to defects in chromosome maintenance that promote genetic instability and, it is likely, tumorigenesis...
  38. ncbi The breakage-fusion-bridge (BFB) cycle as a mechanism for generating genetic heterogeneity in osteosarcoma
    Shamini Selvarajah
    Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada
    Chromosoma 115:459-67. 2006
    ....
  39. ncbi Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
    Miguel Angel Pujana
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Gran Via Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Eur J Hum Genet 10:26-35. 2002
    ..LCR15 analysis in non-human primates and age-sequence divergences support a recent origin of this family of segmental duplications through human speciation...
  40. pmc Limiting the persistence of a chromosome break diminishes its mutagenic potential
    Nicole Bennardo
    Department of Cancer Biology, Division of Radiation Biology, Beckman Research Institute of the City of Hope, Duarte, California, USA
    PLoS Genet 5:e1000683. 2009
    ..Furthermore, we find that individual genetic factors play distinct roles during repair of non-cohesive DSB ends that are generated via co-expression of I-SceI with Trex2...
  41. ncbi DNA breaks promote genomic instability by impeding proper chromosome segregation
    Julia A Kaye
    Cancer Research Institute, Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94115, USA
    Curr Biol 14:2096-106. 2004
    ..Here, we have examined the machinery that holds broken chromosome ends together, and we have explored the behavior of broken chromosomes as they pass through mitosis...
  42. pmc A model of oncogenic rearrangements: differences between chromosomal translocation mechanisms and simple double-strand break repair
    David M Weinstock
    Department of Medicine and Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Blood 107:777-80. 2006
    ..Interestingly, in a direct comparison, the spectrum of translocation breakpoint junctions differed from junctions derived from repair at a single chromosomal break, providing mechanistic insight into translocation formation...
  43. pmc Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
    J M Amos-Landgraf
    Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106 4955, USA
    Am J Hum Genet 65:370-86. 1999
    ..Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process...
  44. ncbi Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
    Katarzyna Borg
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211, Warsaw, Poland
    Hum Genet 118:267-75. 2005
    ..Other potential genes responsible for intellectual deficiency disrupted as a result of patient's chromosomal rearrangement map at 12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF)...
  45. pmc Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
    M de Gregori
    Biologia Generale e Genetica Medica, Universitè di Pavia, Pavia, Italy
    J Med Genet 44:750-62. 2007
    ....
  46. ncbi Increased radiation-induced chromosome breakage after progesterone addition at the G1/S-phase transition
    M Ricoul
    CEA, Laboratoire de Radiobiologie et Oncologie, DRR, DSV, Fontenay aux Roses, France
    Mutat Res 403:177-83. 1998
    ..Cultures with an increased frequency of chromosome breakage had a slightly higher mitotic index than controls...
  47. ncbi Evaluation of chromosome breakage and DNA integrity in sperm: an investigation of remote semen collection conditions
    Karen E Young
    Molecular Toxicology Program, Center for Occupational and Environmental Health, School of Nursing, University of California, Los Angeles, USA
    J Androl 24:853-61. 2003
    ..The mean frequency of chromosome breakage per 10 000 cells scored in sperm-FISH for FF and F24 was 10.5 +/- 1.3 breaks and 11.2 +/- 1...
  48. ncbi A non-B-DNA structure at the Bcl-2 major breakpoint region is cleaved by the RAG complex
    Sathees C Raghavan
    Norris Comprehensive Cancer Center, Room 5428, University of Southern California Keck School of Medicine, 1441 Eastlake Ave, MC9176, Los Angeles, California 90033, USA
    Nature 428:88-93. 2004
    ..Hence, a stable non-B-DNA structure in the human genome appears to be the basis for the fragility of the Bcl-2 Mbr, and the RAG complex is able to cleave this structure...
  49. ncbi Jumping translocations are common in solid tumor cell lines and result in recurrent fusions of whole chromosome arms
    H M Padilla-Nash
    Genetics Department, Division of Clinical Sciences, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genes Chromosomes Cancer 30:349-63. 2001
    ..consequently resulting in tumor-specific genomic imbalances. Published 2001 Wiley-Liss, Inc...
  50. ncbi Molecular processes of chromosome 9p21 deletions causing inactivation of the p16 tumor suppressor gene in human cancer: deduction from structural analysis of breakpoints for deletions
    Takashi Kohno
    Biology Division, National Cancer Center Research Institute, Tokyo, Japan
    DNA Repair (Amst) 5:1273-81. 2006
    ..Further structural analysis of other hot spots of chromosomal DNA breaks as well as the evaluation of the activity and specificity of NHEJ in human cells will elucidate the mechanisms of chromosome interstitial deletions in human cells...
  51. pmc Genomic disorders on 22q11
    Heather E McDermid
    Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada
    Am J Hum Genet 70:1077-88. 2002
    ..Research on genomic disorders on 22q11 will continue to expand our knowledge of the mechanisms of chromosomal rearrangements and the molecular basis of their phenotypic consequences...
  52. pmc Testing chromosomal phylogenies and inversion breakpoint reuse in Drosophila
    Josefa González
    Departament de Genetica i de Microbiologia, Universitat Autonoma de Barcelona, 08193 Bellaterra Barcelona, Spain
    Genetics 175:167-77. 2007
    ..We also estimated the rate of rearrangement between D. repleta and D. buzzatii and conclude that rates within the genus Drosophila vary substantially between lineages, even within a single species group...
  53. pmc Recurring genomic breaks in independent lineages support genomic fragility
    Hanno Hinsch
    Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA, USA
    BMC Evol Biol 6:90. 2006
    ..In contrast, we investigate whether this regional fragility is an inherent genomic characteristic and is thus conserved over multiple independent lineages...
  54. pmc Breakpoint regions and homologous synteny blocks in chromosomes have different evolutionary histories
    Denis M Larkin
    Department of Animal Sciences, University of Illinois at Urbana Champaign, Urbana, IL 61801, USA
    Genome Res 19:770-7. 2009
    ..These results demonstrate that chromosome breakage in evolution is nonrandom and that HSBs and EBRs are evolving in distinctly different ways...
  55. ncbi Evolutionary breakpoints are co-localized with fragile sites and intrachromosomal telomeric sequences in primates
    A Ruiz-Herrera
    Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, Spain
    Cytogenet Genome Res 108:234-47. 2005
    ..More than 80% of these evolutionary breakpoints are located in chromosome bands that express FSs and/or contain ITSs...
  56. ncbi Peculiar structure and location of 9p21 homozygous deletion breakpoints in human cancer cells
    Andrea R Florl
    Urologische Klinik, Heinrich Heine Universitat, Dusseldorf, Germany
    Genes Chromosomes Cancer 37:141-8. 2003
    ..Therefore, an unknown mechanism appears to be involved in the generation of CDKN2A deletions during carcinogenesis...
  57. ncbi The genotoxic effects of hepatitis B virus to host DNA
    Pinar Ozkal
    Department of Medical Biology, Ankara University School of Medicine, Ankara, Turkey
    Mutagenesis 20:147-50. 2005
    ..HBV patients and 20 chronic HBV carriers were cultured in order to make cytogenetic evaluation by observing chromosome breakage and cytological evaluation by the micronucleus (MN) test...
  58. pmc Breakpoints of gross deletions coincide with non-B DNA conformations
    Albino Bacolla
    Institute of Biosciences and Technology, Center for Genome Research, Texas A and M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 101:14162-7. 2004
    ..In 11 deletions analyzed, breakpoints were explicable by non-B DNA structure formation. We conclude that alternative DNA conformations trigger genomic rearrangements through recombination-repair activities...
  59. ncbi The cellular response to chromosome breakage
    Maria Pia Longhese
    Dipartimento di Biotecnologie e Bioscienze, Universita di Milano Bicocca, 20126 Milan, Italy
    Mol Microbiol 60:1099-108. 2006
    ..Not surprisingly, defects in these networks result in a variety of diseases ranging from severe genetic disorders to cancer predisposition and accelerated ageing...
  60. ncbi Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Germany
    Cytogenet Genome Res 108:91-7. 2005
    ..These findings coincide with the trend observed in hominoid karyotype evolution that humans have a karyotype close to an ancestral one, while African great apes present with more derived chromosome arrangements...
  61. pmc Hotspots of mammalian chromosomal evolution
    Jeffrey A Bailey
    Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Genome Biol 5:R23. 2004
    ..With the availability of both the human and mouse genomic sequences, detailed analysis of the sequence properties underlying these breakpoints is now possible...
  62. pmc Reconstructing the genomic architecture of ancestral mammals: lessons from human, mouse, and rat genomes
    Guillaume Bourque
    Centre de Recherches Mathématiques, Universite de Montreal, Canada H3C 3J7
    Genome Res 14:507-16. 2004
    ..Our analysis implies that the rate of rearrangements is much higher in murid rodents than in the human lineage and confirms the existence of rearrangement hot-spots in all three lineages...
  63. pmc Breakpoint structure reveals the unique origin of an interspecific chromosomal inversion (2La) in the Anopheles gambiae complex
    Igor V Sharakhov
    Center for Tropical Disease Research and Training, Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556, USA
    Proc Natl Acad Sci U S A 103:6258-62. 2006
    ..The derived position of 2L+a, long considered ancestral in this medically important group, has significant implications for the phylogenetic history and the evolution of vectorial capacity in the A. gambiae complex...
  64. ncbi Should chromosome breakage studies be performed in patients with VACTERL association?
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 137:55-8. 2005
    ..Although VACTERL with hydrocephaly has clearly been associated with FA, the indication for chromosome breakage studies is not clear in VACTERL without hydrocephaly...
  65. ncbi Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints
    Stefan Vermeulen
    Center for Medical Genetics, Ghent University Hospital 0K5, De Pintelaan 185, 9000 Ghent, Belgium
    Am J Med Genet A 124:10-8. 2004
    ..The other patient had a breakpoint more proximal to this region. The present data together with these from the literature provide evidence that a region within 7q21.11 may be prone to breakage and formation of CCRs...
  66. pmc Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
    Violaine Goidts
    Department of Human Genetics, University of Ulm, 89081 Ulm, Germany
    Genome Res 15:1232-42. 2005
    ..Thus, the most parsimonious interpretation is that the gorilla and chimpanzee homologs exhibit similar but nonidentical derived pericentric inversions, whereas HSA 16 represents the ancestral form among hominoids...
  67. pmc Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
    Devin P Locke
    Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Genome Biol 4:R50. 2003
    ..Reproductive isolation and subsequent speciation are thought to be the potential result of pericentric inversions, as reproductive boundaries form as a result of hybrid sterility...
  68. pmc Hotspots of mutation and breakage in dog and human chromosomes
    Caleb Webber
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom
    Genome Res 15:1787-97. 2005
    ..Rather, we propose that high G+C sequences are found preferentially within dog subtelomeres as a direct consequence of chromosomal fission occurring more frequently within regions elevated in G+C...
  69. ncbi H2AX prevents DNA breaks from progressing to chromosome breaks and translocations
    Sonia Franco
    Howard Hughes Medical Institute, The Children s Hospital, Department of Genetics, Harvard Medical School and the CBR Institute for Biomedical Research, Boston, Massachusetts 02115, USA
    Mol Cell 21:201-14. 2006
    ..As cellular p53 status does not markedly influence the frequency of such events, our results also have implications for how p53 and the DSB response machinery cooperate to suppress generation of lymphomas with oncogenic translocations...
  70. ncbi The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage
    Laura Ciapponi
    Dipartimento di Genetica e Biologia Molecolare and Istituto di Biologia e Patologia Molecolari del Consiglio Nazionale delle Ricerche, Universita di Roma La Sapienza, 00185 Rome, Italy
    Curr Biol 14:1360-6. 2004
    ..Here, we show that null mutations in the Drosophila mre11 and rad50 genes cause both telomeric fusion and chromosome breakage. Moreover, we demonstrate that these mutations are in the same epistasis group required for telomere ..
  71. ncbi Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
    Giorgio Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, Genoa, Italy
    Hum Mol Genet 12:849-58. 2003
    ..004). The BP2/3 inversion should be an intermediate estate that facilitates the occurrence of 15q11-q13 BP2/3 deletions in the offspring...
  72. ncbi Genetic alterations in cancer as a result of breakage at fragile sites
    Nicholas C Popescu
    Molecular Cytogenetics Section, Laboratory of Experimental Carcinogenesis, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20814 4958, USA
    Cancer Lett 192:1-17. 2003
    ....
  73. pmc Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
    Elena V Linardopoulou
    Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North C3 168, Seattle, Washington 98109, USA
    Nature 437:94-100. 2005
    ..More generally, our analyses suggest an evolutionary cycle between segmental polymorphisms and genome rearrangements...
  74. ncbi Chromosomal breakpoint reuse in genome sequence rearrangement
    David Sankoff
    Department of Mathematics and Statistics, University of Ottawa, 585 King Edward Avenue, Ottawa, Ontario, Canada K1N 6N5
    J Comput Biol 12:812-21. 2005
    ..Analytic and simulation methods show that reuse is very sensitive to the proportion of blocks excluded. As is pertinent to the comparison of mammalian genomes, this exclusion risks randomizing the comparison partially or entirely...
  75. ncbi Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites
    S G Durkin
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Oncogene 25:4381-8. 2006
    ..These findings demonstrate a critical role for the CHK1 kinase in regulating chromosome stability, and in particular, common fragile site stability...
  76. pmc A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
    Katherine A Fantauzzo
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 17:3539-51. 2008
    ..Collectively, these results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in AS in humans and the Koa phenotype in mice...
  77. pmc Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
    Jennifer J Johnston
    J Med Genet 44:e59. 2007
    ..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
  78. ncbi Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1
    Marzena Gajecka
    Health Research and Education Center, Washington State University, Box 1495, Spokane, WA, USA
    Chromosome Res 14:277-82. 2006
    ..The discovery of cryptic events in seemingly simple chromosome rearrangements may provide the basis for proposing mechanisms of formation...
  79. ncbi Evidence of abundant constitutive alkali-labile sites in human 5 bp classical satellite DNA loci by DBD-FISH
    J L Fernandez
    Laboratorio de Genética Molecular y Radiobiología, Centro Oncologico de Galicia, 15009, La Coruna, Spain
    Mutat Res 473:163-8. 2001
    ..e. ICF syndrome or 5-azacytidine treatment...
  80. ncbi A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15
    J Wirth
    Max Planck Institut fur Molekulare Genetik
    Hum Mol Genet 10:201-10. 2001
    ..Our data suggest that lack of expression of these sequences contributes to the PWS phenotype...
  81. ncbi SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination
    K Myung
    Ludwig Institute for Cancer Research, University of California San Diego School of Medicine, La Jolla, California, USA
    Nat Genet 27:113-6. 2001
    ..This suggests that defects in the suppression of rearrangements involving divergent, repeated sequences may underlie the genome instability seen in BLM and WRN patients and in cancer cases associated with defects in these genes...
  82. pmc A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array
    Tianwei Yu
    Department of Biostatistics, Rollins School of Public Health, Emory University, Atlanta, GA, USA
    BMC Bioinformatics 8:145. 2007
    ..To accurately identify small segments of CNA from SNP array data, segmentation methods that are sensitive to CNA while resistant to noise are required...
  83. ncbi Interphase FISH detection of BCL2 rearrangement in follicular lymphoma using breakpoint-flanking probes
    J W Vaandrager
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Genes Chromosomes Cancer 27:85-94. 2000
    ..Because interpretation of the results is straightforward and requires no extensive experience, this assay may be the best available diagnostic test for BCL2 rearrangement. Genes Chromosomes Cancer 27:85-94, 2000...
  84. ncbi ATM prevents the persistence and propagation of chromosome breaks in lymphocytes
    Elsa Callen
    Experimental Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1360, USA
    Cell 130:63-75. 2007
    ..Silencing this checkpoint permits DNA ends produced by V(D)J recombination in a lymphoid precursor to serve as substrates for translocations with chromosomes subsequently damaged by other means in mature cells...
  85. ncbi Genomic DNA damage in mouse transgenesis
    Yasuhiro Yamauchi
    Institute for Biogenesis Research, University of Hawaii Medical School, Honolulu, Hawaii 96822, USA
    Biol Reprod 77:803-12. 2007
    ..The present study demonstrates that DNA damage occurs after both the microinjection of pronuclei and ICSI-mediated transgenesis, albeit through different mechanisms...
  86. pmc Comparative analysis of chicken chromosome 28 provides new clues to the evolutionary fragility of gene-rich vertebrate regions
    Laurie Gordon
    Genome Biology Group, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genome Res 17:1603-13. 2007
    ....
  87. pmc Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites
    Santhosh Girirajan
    Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Genome Res 19:178-90. 2009
    ....
  88. pmc Precise detection of rearrangement breakpoints in mammalian chromosomes
    Claire Lemaitre
    Universite de Lyon, F 69000, Lyon, France
    BMC Bioinformatics 9:286. 2008
    ..Contrary to current methods which search for synteny blocks and simply return what remains in the genome as breakpoints, we propose to go further and to investigate the breakpoints themselves in order to refine them...
  89. ncbi High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot
    A J Jeffreys
    Department of Genetics, University of Leicester, United Kingdom
    Mol Cell 2:267-73. 1998
    ....
  90. ncbi Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution
    P Dehal
    DOE Joint Genome Institute, Walnut Creek, CA 94598, USA
    Science 293:104-11. 2001
    ..Finally, we sequenced breakpoints of all 15 evolutionary rearrangements, providing a view of the forces that drive chromosome evolution in mammals...
  91. pmc Fourfold faster rate of genome rearrangement in nematodes than in Drosophila
    Avril Coghlan
    Department of Genetics, Smurfit Institute, University of Dublin, Trinity College, Dublin 2, Ireland
    Genome Res 12:857-67. 2002
    ..The breakpoints of translocations are strongly associated with dispersed repeats and gene family members in the C. elegans genome...
  92. pmc Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region
    M G Butler
    J Med Genet 39:202-4. 2002
  93. pmc High-resolution comparative mapping among man, cattle and mouse suggests a role for repeat sequences in mammalian genome evolution
    Laurent Schibler
    Laboratoire de Génétique Biochimique et de Cytogénétique, Département de Génétique Animale, Institut National de la Recherche Agronomique, Centre de Recherche de Jouy, 78352 Jouy en Josas, Cedex, France
    BMC Genomics 7:194. 2006
    ..In this work, we have explored the presence of interspersed repeats in regions of chromosomal rearrangements, using an updated high-resolution integrated comparative map among cattle, man and mouse...
  94. ncbi Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors
    Cristina Morelli
    Department of Experimental and Diagnostic Medicine, Section of Microbiology and Center for Biotechnology, University of Ferrara, I 44100 Ferrara, Italy
    Oncogene 21:7266-76. 2002
    ..Moreover, a gene associated to hereditary schizophrenia maps within FRA6F. Therefore, FRA6F may represent a landmark for the identification and cloning of genes involved in senescence, leukemia, cancer and schizophrenia...
  95. ncbi Nonrandom distribution of interspersed repeat elements in the BCR and ABL1 genes and its relation to breakpoint cluster regions
    A R Jeffs
    Leukaemia Research Group, Christchurch School of Medicine, Christchurch, New Zealand
    Genes Chromosomes Cancer 32:144-54. 2001
    ..Instead, as yet unidentified DNA conformation or nucleotide characteristics peculiar to the preferentially recombining regions, including those Alu elements present within them, more likely influence their fragility...
  96. ncbi High frequency of constitutive alkali-labile sites in mouse major satellite DNA, detected by DNA breakage detection-fluorescence in situ hybridization
    M T Rivero
    , , Avda de Montserrat s/n, 15009, , Spain
    Mutat Res 483:43-50. 2001
    ....
  97. ncbi Genome structural variation and sporadic disease traits
    James R Lupski
    Nat Genet 38:974-6. 2006
  98. ncbi Chromosomal translocation mechanisms at intronic alu elements in mammalian cells
    Beth Elliott
    Molecular Biology Program, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, New York 10021, USA
    Mol Cell 17:885-94. 2005
    ..These results emphasize the fluidity of mammalian DSB repair pathway usage. The intron-based system is highly adaptable to addressing a number of issues regarding molecular mechanisms of genomic rearrangements in mammalian cells...
  99. ncbi A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection
    Alma Kuechler
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    J Histochem Cytochem 53:355-7. 2005
    ....
  100. ncbi Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation
    P A Lennon
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 140:1156-63. 2006
    ..Partial trisomy for 18q23 has not been previously reported. The importance of mapping the breakpoints of all balanced and unbalanced translocations found in the clinical laboratory, when phenotypic abnormalities are found, is discussed...
  101. ncbi Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs
    D Giardino
    Laboratorio di Citogenetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Prenat Diagn 26:565-70. 2006
    ....

Research Grants81

  1. DNA REPLICATION AND CHROMOSOME STRUCTURE IN YEAST
    Virginia A Zakian; Fiscal Year: 2010
    ..we will again use genome wide approaches, which will identify Pfh1 binding sites, as well as sites of chromosome breakage upon Pfh1 depletion...
  2. Sperm DNA damage in fertilization
    MONIKA WARD; Fiscal Year: 2005
    ..breaks, examine early post-fertilization events after ICSI with treated spermatozoa, and test if paternal chromosome breakage can be observed in the absence of ICSI, to exclude the possibility that observed chromosome breakage is an ..
  3. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    JANET M STAVNEZER; Fiscal Year: 2010
    ..We will investigate what makes these other sites targets for AID, and for DNA break formation. Thus our studies will also shed light on the important question of how AID chooses its targets. ..
  4. Sperm DNA damage in fertilization
    MONIKA WARD; Fiscal Year: 2006
    ..breaks, examine early post-fertilization events after ICSI with treated spermatozoa, and test if paternal chromosome breakage can be observed in the absence of ICSI, to exclude the possibility that observed chromosome breakage is an ..
  5. MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCH
    JANET M STAVNEZER; Fiscal Year: 2010
    ..We will investigate what makes these other sites targets for AID, and for DNA break formation. Thus our studies will also shed light on the important question of how AID chooses its targets. ..
  6. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2009
    ..This grant proposal seeks funding to conduct these clinical trials and further develop retrovirus-mediated complementation analysis in a CAP/CLIA environment for use in clinical management of FA patients. ..
  7. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2007
    ..This grant proposal seeks funding to conduct these clinical trials and further develop retrovirus-mediated complementation analysis in a CAP/CLIA environment for use in clinical management of FA patients. ..
  8. Novel Molecular and Cellular Therapies in Fanconi Anemia
    David Williams; Fiscal Year: 2006
    ..This grant proposal seeks funding to conduct these clinical trials and further develop retrovirus-mediated complementation analysis in a CAP/CLIA environment for use in clinical management of FA patients. ..
  9. PHENYTOIN PATHOGENESIS OF GINGIVAL OVERGROWTH
    Thomas Hassell; Fiscal Year: 1990
    ..The cat breeding study will continue to enhance the human twin experiments. Cytogenetic analyses (e.g., chromosome breakage, sister chromatid exchange) will be performed on fibroblasts from overgrown gingiva, with and without in ..
  10. RADIATION CYTOGENETICS
    Joel Bedford; Fiscal Year: 1993
    ..studies of the nature of lesions that lead to aberration formation including an investigation of interphase chromosome breakage as expressed in prematurely condensed chromosomes (PCCs) as well as mitotic chromosomes...
  11. RADIATION CYTOGENETICS
    Joel Bedford; Fiscal Year: 1990
    ..studies of the nature of lesions that lead to aberration formation including an investigation of interphase chromosome breakage as expressed in prematurely condensed chromosomes (PCCs) as well as mitotic chromosomes...
  12. ISOLATION OF THE FANCONI ANEMIA NUCLEAR PROTEIN COMPLEX
    Gary Kupfer; Fiscal Year: 2000
    ..Identification of new proteins and elucidation of FA pathway mechanisms will help uncover a new realm of cancer biology and directly provide clinical applicability. ..
  13. ISOLATION OF THE FANCONI ANEMIA NUCLEAR PROTEIN COMPLEX
    Gary Kupfer; Fiscal Year: 2001
    ..Identification of new proteins and elucidation of FA pathway mechanisms will help uncover a new realm of cancer biology and directly provide clinical applicability. ..
  14. ISOLATION OF THE FANCONI ANEMIA NUCLEAR PROTEIN COMPLEX
    Gary Kupfer; Fiscal Year: 2002
    ..Identification of new proteins and elucidation of FA pathway mechanisms will help uncover a new realm of cancer biology and directly provide clinical applicability. ..
  15. ISOLATION OF THE FANCONI ANEMIA NUCLEAR PROTEIN COMPLEX
    Gary Kupfer; Fiscal Year: 2003
    ..Identification of new proteins and elucidation of FA pathway mechanisms will help uncover a new realm of cancer biology and directly provide clinical applicability. ..
  16. CHROMOSOMAL COMPLEMENTATION OF BLOOM SYNDROME CELLS
    Roger Schultz; Fiscal Year: 1990
    ..clones will be quantitatively characterized for BS associated cellular phenotypes, including rates of chromosome breakage, and the appearance of both DNA ligase I activity and the normal antigenic form of uracil DNA glycosylase...
  17. Novel therapies for Fanconi anemia
    DAVID A contact WILLIAMS; Fiscal Year: 2010
    ....
  18. REPLICATION AND AMPLIFICATION OF TETRAHYMENA RDNA
    Geoffrey Kapler; Fiscal Year: 1999
    ..rDNA amplification occurs as part of a developmental program, accompanied by chromosome breakage and DNA rearrangement, similar to mammalian amplification events...
  19. REPLICATION AND AMPLIFICATION OF TETRAHYMENA RDNA
    Geoffrey Kapler; Fiscal Year: 2000
    ..rDNA amplification occurs as part of a developmental program, accompanied by chromosome breakage and DNA rearrangement, similar to mammalian amplification events...
  20. MOLECULAR GENETIC ANALYSIS OF XQ28
    Stephen Warren; Fiscal Year: 1990
    ..this will be accomplished by inducing, in the hybrid cells, chromosome breakage at the fragile X site (Xq27...
  21. CYTOGENETICS
    Robert Jenkins; Fiscal Year: 2009
    ..The CSR provides specialized services including cell culture, routine cytogenetic analysis, chromosome breakage analysis, interphase and metaphase Fluorescence in situ Hybridization (FISH), Spectral Karyotyping (SKY) ..
  22. DNA REPLICATION AND CHROMOSOME STRUCTURE IN YEAST
    Virginia A Zakian; Fiscal Year: 2011
    ..we will again use genome wide approaches, which will identify Pfh1 binding sites, as well as sites of chromosome breakage upon Pfh1 depletion...
  23. DGAP: Developmental Genome Anatomy Project
    Cynthia Morton; Fiscal Year: 2009
    ....
  24. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2002
    ..Identification of new proteins and elucidation of FA pathway mechanisms promise to shed light on a novel area of cancer biology with the potential to provide direct clinical applicability. ..
  25. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2003
    ..Identification of new proteins and elucidation of FA pathway mechanisms promise to shed light on a novel area of cancer biology with the potential to provide direct clinical applicability. ..
  26. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2006
    ..Identification of new proteins and elucidation of FA pathway mechanisms promise to shed light on a novel area of cancer biology with the potential to provide direct clinical applicability. ..
  27. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2005
    ..Identification of new proteins and elucidation of FA pathway mechanisms promise to shed light on a novel area of cancer biology with the potential to provide direct clinical applicability. ..
  28. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2004
    ..Identification of new proteins and elucidation of FA pathway mechanisms promise to shed light on a novel area of cancer biology with the potential to provide direct clinical applicability. ..
  29. MOLECULAR MECHANISMS IN SCLERODERMA--SCL-70/TOPO I
    Angeline Douvas; Fiscal Year: 1990
    ..Based on the outcome of these studies it may be possible to design more specific and effective therapies for this disorder...
  30. REGULATION OF MITOSIS IN NORMAL AND TRANSFORMED CELLS
    Robert Schlegel; Fiscal Year: 1993
    ....
  31. MECHANISMS AND CONSEQUENCES OF CHROMOSOMAL ABNORMALITIES
    David Ledbetter; Fiscal Year: 2002
    ..Evidence now suggests the presence of four hotspots for chromosome breakage in this region: two proximal to the PWS/AS region and two distal...
  32. MECHANISMS AND CONSEQUENCES OF CHROMOSOMAL ABNORMALITIES
    David Ledbetter; Fiscal Year: 2001
    ..Evidence now suggests the presence of four hotspots for chromosome breakage in this region: two proximal to the PWS/AS region and two distal...
  33. MECHANISMS AND CONSEQUENCES OF CHROMOSOMAL ABNORMALITIES
    David Ledbetter; Fiscal Year: 1999
    ..Evidence now suggests the presence of four hotspots for chromosome breakage in this region: two proximal to the PWS/AS region and two distal...
  34. MECHANISMS AND CONSEQUENCES OF CHROMOSOMAL ABNORMALITIES
    David Ledbetter; Fiscal Year: 2000
    ..Evidence now suggests the presence of four hotspots for chromosome breakage in this region: two proximal to the PWS/AS region and two distal...
  35. The Tetrahymena Genome Project
    Eduardo Orias; Fiscal Year: 2003
    ..The map will also include two other types of STS: 1) chromosome breakage junctions, to serve as the well defined ends to the physical map of each macronuclear chromosome fragment ..
  36. The Tetrahymena Genome Project
    Eduardo Orias; Fiscal Year: 2003
    ..The map will also include two other types of STS: 1) chromosome breakage junctions, to serve as the well defined ends to the physical map of each macronuclear chromosome fragment ..
  37. The Tetrahymena Genome Project
    Eduardo Orias; Fiscal Year: 2004
    ..The map will also include two other types of STS: 1) chromosome breakage junctions, to serve as the well defined ends to the physical map of each macronuclear chromosome fragment ..
  38. The Tetrahymena Genome Project
    Eduardo Orias; Fiscal Year: 2002
    ..The map will also include two other types of STS: 1) chromosome breakage junctions, to serve as the well defined ends to the physical map of each macronuclear chromosome fragment ..
  39. DNA DAMAGE RESPONSE AND DNA REPLICATION
    Jean Gautier; Fiscal Year: 2005
    ..Failure to activate or to coordinate the DNA-damage induced signal transduction pathways can lead to chromosome breakage and loss, and to the propagation of mutations...
  40. Gamma-ray-induced mutagen sensitivity in breast cancer
    Li E Wang; Fiscal Year: 2005
    ....
  41. DNA DAMAGE RESPONSE AND DNA REPLICATION
    Jean Gautier; Fiscal Year: 2003
    ..Failure to activate or to coordinate the DNA-damage induced signal transduction pathways can lead to chromosome breakage and loss, and to the propagation of mutations...
  42. DNA DAMAGE RESPONSE AND DNA REPLICATION
    Jean Gautier; Fiscal Year: 2004
    ..Failure to activate or to coordinate the DNA-damage induced signal transduction pathways can lead to chromosome breakage and loss, and to the propagation of mutations...
  43. DNA DAMAGE RESPONSE AND DNA REPLICATION
    Jean Gautier; Fiscal Year: 2006
    ..Failure to activate or to coordinate the DNA-damage induced signal transduction pathways can lead to chromosome breakage and loss, and to the propagation of mutations...
  44. DNA DAMAGE RESPONSE AND DNA REPLICATION
    Jean Gautier; Fiscal Year: 2002
    ..Failure to activate or to coordinate the DNA-damage induced signal transduction pathways can lead to chromosome breakage and loss, and to the propagation of mutations...
  45. Gamma-ray-induced mutagen sensitivity in breast cancer
    Li E Wang; Fiscal Year: 2004
    ....
  46. TWIN STUDY OF NORMAL AGING
    Matthew McGue; Fiscal Year: 1990
    ....
  47. CHROMOSOME BREAKPOINTS & RENAL & SMALL CELL LUNG CANCER
    David Smith; Fiscal Year: 1991
    ..a sensitive PCR-based assay we will screen large numbers of chromosome 3-only somatic cell hybrids in which chromosome breakage is induced with aphidicolin. This will show whether there is a clustering of fragile site breaks...
  48. SOMATIC GENOME ALTERATIONS IN OXYTRICHA FALLAX
    Glenn Herrick; Fiscal Year: 1992
    ..Two major theses are to be tested. First, chromosome breakage by a single mechanism may underlie both IES excision and telomere formation...
  49. CHROMOSOME BREAKAGE AND DNA DELETION IN TETRAHYMENA
    Meng Chao Yao; Fiscal Year: 1999
    ..Past studies by this and other laboratories have revealed two major processes: site specific chromosome breakage and DNA deletion...
  50. MUTATION IN HYBRIDS OF DROSOPHILA
    Michael Simmons; Fiscal Year: 1990
    ..These aberrations include frequent mutation and chromosome breakage. The other part of the plan concerns the L factor, a transposable element postulated to explain the ..
  51. Regulation of Caenorhabditis elegans DNA polymerase eta by regulated proteolysis
    Ashley B Williams; Fiscal Year: 2010
    ..stalled replication forks can have serious effects on cells, including interruptions in the cell cycle and chromosome breakage. Thus, UV-induced DNA lesions can destabilize the genome, increasing the chance of mutations...
  52. DGAP: Developmental Genome Anatomy Project
    CYNTHIA CASSON MORTON; Fiscal Year: 2010
    ....
  53. TRANSDUCTION OF FANCONI ANEMIA TYPE C GROUP GENE INTO HEMATOPOIETIC STEM CELLS
    Hal Broxmeyer; Fiscal Year: 1999
    ..The information obtained could lead to a gene therapy approach to cure the FA syndrome by autologous stem/progenitor cell transplantation. ..
  54. GENOTOXICITY OF CHROMIUM COMPOUNDS
    Anatoly Zhitkovich; Fiscal Year: 2010
    ..The completion of the proposed work can lead to the identification of biochemical factors that increase or decrease individual susceptibility to genetic damage by carcinogenic chromium. ..
  55. GENOTOXICITY OF CHROMIUM COMPOUNDS
    Anatoly Zhitkovich; Fiscal Year: 2009
    ..The completion of the proposed work can lead to the identification of biochemical factors that increase or decrease individual susceptibility to genetic damage by carcinogenic chromium. ..
  56. EVALUATION OF GENETIC THERAPY IN FANC MICE
    DAVID CLAPP; Fiscal Year: 2004
    ..The information obtained could lead to a gene therapy approach to cure the FA syndrome by autologous stem/progenitor cell transplantation. ..
  57. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 1992
    ..To identify DNA of the fragile X site, a somatic cell hybrid system was developed that can monitor chromosome breakage within or near the fragile X site...
  58. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2002
    ....
  59. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2001
    ....
  60. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2003
    ....
  61. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2004
    ....
  62. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 1991
    ..To identify DNA of the fragile X site, a somatic cell hybrid system was developed that can monitor chromosome breakage within or near the fragile X site...
  63. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 1993
    ..To identify DNA of the fragile X site, a somatic cell hybrid system was developed that can monitor chromosome breakage within or near the fragile X site...
  64. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2005
    ....
  65. MECHANISMS OF DNA DAMAGE TRIGGERED S PHASE CHECKPOINTS
    Thomas Melendy; Fiscal Year: 2005
    ....