gene rearrangement

Summary

Summary: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

Top Publications

  1. ncbi Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer
    Scott A Tomlins
    Department of Pathology, University of Michigan Medical School, 1301 Catherine Street, Ann Arbor, MI 48109 0602, USA
    Science 310:644-8. 2005
  2. pmc Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: a retrospective analysis
    Alice T Shaw
    Massachusetts General Hospital Cancer Center, Boston, MA, USA
    Lancet Oncol 12:1004-12. 2011
  3. pmc A microhomology-mediated break-induced replication model for the origin of human copy number variation
    P J Hastings
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 5:e1000327. 2009
  4. ncbi Comprehensive histologic analysis of ALK-rearranged lung carcinomas
    Akihiko Yoshida
    Pathology and Clinical Laboratory Division, National Cancer Center Hospital, Tokyo, Japan
    Am J Surg Pathol 35:1226-34. 2011
  5. ncbi A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA
    Cell 131:1235-47. 2007
  6. pmc Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, 3584 CG, The Netherlands
    Genome Biol 12:R103. 2011
  7. ncbi Gene rearrangements and evolution of tRNA pseudogenes in the mitochondrial genome of the parrotfish (Teleostei: Perciformes: Scaridae)
    Kohji Mabuchi
    Ocean Research Institute, University of Tokyo, 1 15 1 Minamidai, Nakano Ku, Tokyo 164 8639, Japan
    J Mol Evol 59:287-97. 2004
  8. pmc PiggyMac, a domesticated piggyBac transposase involved in programmed genome rearrangements in the ciliate Paramecium tetraurelia
    Céline Baudry
    CNRS FRE 3144, Centre de Genetique Moleculaire, Gif sur Yvette F 91198 Cedex, France
    Genes Dev 23:2478-83. 2009
  9. pmc Complex landscapes of somatic rearrangement in human breast cancer genomes
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 462:1005-10. 2009
  10. ncbi Evolution of the mitochondrial genome of Metazoa as exemplified by comparison of congeneric species
    C Gissi
    Dipartimento di Scienze Biomolecolari e Biotecnologie, Universita di Milano, Milano, Italy
    Heredity (Edinb) 101:301-20. 2008

Detail Information

Publications301 found, 100 shown here

  1. ncbi Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer
    Scott A Tomlins
    Department of Pathology, University of Michigan Medical School, 1301 Catherine Street, Ann Arbor, MI 48109 0602, USA
    Science 310:644-8. 2005
    ..These results have implications in the development of carcinomas and the molecular diagnosis and treatment of prostate cancer...
  2. pmc Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: a retrospective analysis
    Alice T Shaw
    Massachusetts General Hospital Cancer Center, Boston, MA, USA
    Lancet Oncol 12:1004-12. 2011
    ALK gene rearrangement defines a new molecular subtype of non-small-cell lung cancer (NSCLC)...
  3. pmc A microhomology-mediated break-induced replication model for the origin of human copy number variation
    P J Hastings
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 5:e1000327. 2009
    ....
  4. ncbi Comprehensive histologic analysis of ALK-rearranged lung carcinomas
    Akihiko Yoshida
    Pathology and Clinical Laboratory Division, National Cancer Center Hospital, Tokyo, Japan
    Am J Surg Pathol 35:1226-34. 2011
    ..ALK-positive cancers commonly showed coexpression of thyroid transcription factor-1 and p63, and its significance is currently unclear...
  5. ncbi A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA
    Cell 131:1235-47. 2007
    ..We propose that complex duplication and deletion rearrangements associated with PMD, and potentially other nonrecurrent rearrangements, may be explained by this replication-based mechanism...
  6. pmc Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, 3584 CG, The Netherlands
    Genome Biol 12:R103. 2011
    ..The significance of these clusters for tumor development or metastatic spread is largely unclear...
  7. ncbi Gene rearrangements and evolution of tRNA pseudogenes in the mitochondrial genome of the parrotfish (Teleostei: Perciformes: Scaridae)
    Kohji Mabuchi
    Ocean Research Institute, University of Tokyo, 1 15 1 Minamidai, Nakano Ku, Tokyo 164 8639, Japan
    J Mol Evol 59:287-97. 2004
    ..the complete nucleotide sequence of the mitogenome for a parrotfish, Chlorurus sordidus, and found a gene rearrangement accompanied by a tRNA pseudogene...
  8. pmc PiggyMac, a domesticated piggyBac transposase involved in programmed genome rearrangements in the ciliate Paramecium tetraurelia
    Céline Baudry
    CNRS FRE 3144, Centre de Genetique Moleculaire, Gif sur Yvette F 91198 Cedex, France
    Genes Dev 23:2478-83. 2009
    ..This is the first in vivo evidence suggesting an essential endonucleolytic function of a domesticated piggyBac transposase...
  9. pmc Complex landscapes of somatic rearrangement in human breast cancer genomes
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 462:1005-10. 2009
    ..The study provides a new perspective on cancer genomes, highlighting the diversity of somatic rearrangements and their potential contribution to cancer development...
  10. ncbi Evolution of the mitochondrial genome of Metazoa as exemplified by comparison of congeneric species
    C Gissi
    Dipartimento di Scienze Biomolecolari e Biotecnologie, Universita di Milano, Milano, Italy
    Heredity (Edinb) 101:301-20. 2008
    ..Thus, the analysis of congeneric species promises to be a valuable approach for the assessment of the mtDNA evolutionary trend in poorly or not yet sampled metazoan groups...
  11. pmc Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements
    Andrew J Holland
    Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, USA
    Nat Med 18:1630-8. 2012
    ..Complex rearrangements are present in a broad spectrum of tumors and in individuals with congenital or developmental defects, highlighting the impact of chromoanagenesis on human disease...
  12. ncbi Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
    Wigard P Kloosterman
    Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Hum Mol Genet 20:1916-24. 2011
    ..We conclude that a similar mechanism may also drive the formation of de novo structural variation in the germline...
  13. pmc EML4-ALK rearrangement in non-small cell lung cancer and non-tumor lung tissues
    Maria Paola Martelli
    Institute of Hematology, University of Perugia, Perugia, Italy
    Am J Pathol 174:661-70. 2009
    ..The EML4-ALK transcript cannot be regarded as a specific diagnostic tool for NSCLC. Our results show therefore that the causal role and value of EML4-ALK as a therapeutic target remain to be defined...
  14. pmc Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients
    Florence Magrangeas
    INSERM U892, Universite de Nantes, Nantes, France
    Blood 118:675-8. 2011
    ..3% of samples. Moreover, this catastrophic event confers a poor outcome. Because chromothripsis appears to occur in a single crisis, our results suggest that high-risk MM patients use this novel way of cancer evolution...
  15. pmc TMPRSS2-ERG gene fusion is not associated with outcome in patients treated by prostatectomy
    Anuradha Gopalan
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
    Cancer Res 69:1400-6. 2009
    ..We analyzed TMPRSS2-ERG gene rearrangement status by fluorescence in situ hybridization in 521 cases of clinically localized surgically treated ..
  16. ncbi Phylogeny, recombination, and mechanisms of stepwise mitochondrial genome reorganization in mantellid frogs from Madagascar
    Atsushi Kurabayashi
    Institute for Amphibian Biology, Graduate School of Science, Hiroshima University, Hiroshima, Japan
    Mol Biol Evol 25:874-91. 2008
    ..be mediated by a replication fork barrier lying in the CR; 3) general recombination has a potential to cause gene rearrangement in upstream regions of multiple CRs as the results of gene conversion and unequal crossing over processes...
  17. ncbi Multiplex reverse transcription-PCR screening for EML4-ALK fusion transcripts
    Kengo Takeuchi
    Division of Pathology, The Cancer Institute, Tokyo, Japan
    Clin Cancer Res 14:6618-24. 2008
    ..To allow sensitive detection of EML4-ALK fusion transcripts, we have now developed a multiplex reverse transcription-PCR (RT-PCR) system that captures all in-frame fusions between the two genes...
  18. ncbi High-resolution characterization of a hepatocellular carcinoma genome
    Yasushi Totoki
    Division of Cancer Genomics, National Cancer Center Research Institute, Chuo Ku, Tokyo, Japan
    Nat Genet 43:464-9. 2011
    ....
  19. pmc The biology and treatment of EML4-ALK non-small cell lung cancer
    Takaaki Sasaki
    Lowe Center for Thoracic Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
    Eur J Cancer 46:1773-80. 2010
    ..This review will focus on the biology, clinical characteristics, diagnosis and treatment of EML4-ALK NSCLC...
  20. ncbi Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database
    S E A Leigh
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, The Rayne Building, Royal Free and University College London Medical School, London WC1E 6JJ, UK
    Ann Hum Genet 72:485-98. 2008
    ....
  21. ncbi Molecular mechanisms of extensive mitochondrial gene rearrangement in plethodontid salamanders
    Rachel Lockridge Mueller
    Museum of Vertebrate Zoology, University of California, Berkeley, USA
    Mol Biol Evol 22:2104-12. 2005
    Extensive gene rearrangement is reported in the mitochondrial genomes of lungless salamanders (Plethodontidae)...
  22. ncbi The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 41:849-53. 2009
    ..The FoSTeS/MMBIR mechanism can explain both the gene duplication-divergence hypothesis and exon shuffling, suggesting an important role in both genome and single-gene evolution...
  23. ncbi DNA elimination in ciliates: transposon domestication and genome surveillance
    Douglas L Chalker
    Department of Biology, Washington University, St Louis, Missouri 63130, USA
    Annu Rev Genet 45:227-46. 2011
    ..This DNA elimination pathway in ciliates shares extensive similarity with piRNA-mediated silencing of metazoans and highlights the remarkable ability of homologous RNAs to shape developing genomes...
  24. ncbi Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates
    P Desjardins
    Departement de Biochimie, Faculte de Medecine, Universite de Montreal, Quebec, Canada
    J Mol Biol 212:599-634. 1990
    ..These unexpected characteristics represent useful markers for investigating phylogenetic relationships at a higher taxonomic level...
  25. ncbi Correlation of IHC and FISH for ALK gene rearrangement in non-small cell lung carcinoma: IHC score algorithm for FISH
    Eunhee S Yi
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
    J Thorac Oncol 6:459-65. 2011
    Accurate, cost-effective methods for testing anaplastic lymphoma kinase gene rearrangement (ALK+) are needed to select patients with non-small cell lung carcinoma for ALK-inhibitor therapy...
  26. pmc Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    Peter J Campbell
    Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
    Nat Genet 40:722-9. 2008
    ..The results demonstrate the feasibility of systematic, genome-wide characterization of rearrangements in complex human cancer genomes, raising the prospect of a new harvest of genes associated with cancer using this strategy...
  27. pmc Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes
    Axel M Hillmer
    Genome Technology and Biology, Genome Institute of Singapore, Singapore 138672, Singapore
    Genome Res 21:665-75. 2011
    ....
  28. ncbi Screening of anaplastic lymphoma kinase rearrangement by immunohistochemistry in non-small cell lung cancer: correlation with fluorescence in situ hybridization
    Jin Ho Paik
    Department of Pathology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Gyeunggi do, South Korea
    J Thorac Oncol 6:466-72. 2011
    ..There are no universally accepted, evidence-based guidelines on identifying patients with ALK-rearranged lung cancer using IHC...
  29. ncbi Complex human chromosomal and genomic rearrangements
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children s Hospital, Houston, TX 77030, USA
    Trends Genet 25:298-307. 2009
    ....
  30. ncbi Complete mtDNA sequences of two millipedes suggest a new model for mitochondrial gene rearrangements: duplication and nonrandom loss
    Dennis V Lavrov
    Department of Biology, University of Michigan, Ann Arbor, USA
    Mol Biol Evol 19:163-9. 2002
    ..The proposed mechanism has important implications for phylogenetic inferences that are drawn on the basis of gene arrangement comparisons...
  31. pmc Comparisons among two fertile and three male-sterile mitochondrial genomes of maize
    James O Allen
    Division of Biological Sciences, University of Missouri, Columbia, Missouri 65211, USA
    Genetics 177:1173-92. 2007
    ..This method identified the known CMS-associated ORFs in CMS-S and CMS-T, but not in CMS-C...
  32. pmc A fluorescence in situ hybridization screen for E26 transformation-specific aberrations: identification of DDX5-ETV4 fusion protein in prostate cancer
    Bo Han
    Michigan Center for Translational Pathology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Cancer Res 68:7629-37. 2008
    ..Fourth, we identified a ubiquitously expressed, androgen-insensitive gene, DDX5, fused in frame with ETV4, leading to the expression of a DDX5-ETV4 fusion protein...
  33. pmc Mitochondrial genomes of two Barklice, Psococerastis albimaculata and Longivalvus hyalospilus (Psocoptera: Psocomorpha): contrasting rates in mitochondrial gene rearrangement between major lineages of Psocodea
    Hu Li
    Department of Entomology, China Agricultural University, Beijing, China
    PLoS ONE 8:e61685. 2013
    ..We conclude that mt gene rearrangement has been substantially faster in the lineage leading to the booklice and the parasitic lice than in the ..
  34. ncbi Recent segmental duplications in the human genome
    Jeffrey A Bailey
    Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Science 297:1003-7. 2002
    ..Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity...
  35. ncbi Analysis of a piwi-related gene implicates small RNAs in genome rearrangement in tetrahymena
    Kazufumi Mochizuki
    Department of Biology, University of Rochester, Rochester, NY 14627, USA
    Cell 110:689-99. 2002
    ..We propose that these small RNAs function to specify sequences to be eliminated by a mechanism similar to RNA-mediated gene silencing...
  36. pmc Correlations between the percentage of tumor cells showing an anaplastic lymphoma kinase (ALK) gene rearrangement, ALK signal copy number, and response to crizotinib therapy in ALK fluorescence in situ hybridization-positive nonsmall cell lung cancer
    D Ross Camidge
    University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA
    Cancer 118:4486-94. 2012
    ..Increased copy numbers of fused and rearranged signals also occur. Here, correlations are explored between the percentage of ALK+ cells and signal copy number and their association with response to ALK inhibition...
  37. ncbi Inference and analysis of the relative stability of bacterial chromosomes
    Eduardo P C Rocha
    Unité Génétique des Génomes Bactériens, Institut Pasteur, Paris, France and Atelier de BioInformatique, Universite Pierre et Marie Curie Paris VI, Paris, France
    Mol Biol Evol 23:513-22. 2006
    ..Hence, although this method has allowed uncovering some of mechanisms leading to rearrangements, we still ignore the forces that differentially shape selection upon genome stability in different species...
  38. ncbi ND6 gene "lost" and found: evolution of mitochondrial gene rearrangement in Antarctic notothenioids
    Xuan Zhuang
    Department of Animal Biology, University of Illinois at Urbana Champaign, IL, USA
    Mol Biol Evol 27:1391-403. 2010
    ....
  39. ncbi Complete mitochondrial genomes of two Japanese precious corals, Paracorallium japonicum and Corallium konojoi (Cnidaria, Octocorallia, Coralliidae): notable differences in gene arrangement
    Kouji Uda
    Laboratories of Biochemistry, Faculty of Science, Kochi University, Kochi 780 8520, Japan
    Gene 476:27-37. 2011
    ..Our results support the validity of the morphological classification that separated the family Coralliidae into two genera, Corallium and Paracorallium...
  40. pmc Sessile snails, dynamic genomes: gene rearrangements within the mitochondrial genome of a family of caenogastropod molluscs
    Timothy A Rawlings
    Cape Breton University, 1250 Grand Lake Road, Sydney, NS B1P 6L2, Canada
    BMC Genomics 11:440. 2010
    ....
  41. pmc Comparative and phylogenomic studies on the mitochondrial genomes of Pentatomomorpha (Insecta: Hemiptera: Heteroptera)
    Jimeng Hua
    Department of Zoology and Developmental Biology, Institute of Entomology, College of Life Sciences, Nankai University, Tianjin 300071, PR China
    BMC Genomics 9:610. 2008
    ..genomes, but in the suborder Heteroptera (Insecta: Hemiptera), there was only one complete mitochondrial genome sequenced without gene rearrangement and the phylogeny of infraorder Pentatomomorpha in Heteroptera was still uncertain.
  42. pmc Developmentally regulated chromosome fragmentation linked to imprecise elimination of repeated sequences in paramecia
    Anne Le Mouël
    Laboratoire de Genetique Moleculaire, CNRS UMR 8541, Ecole Normale Superieure, 75005 Paris, France
    Eukaryot Cell 2:1076-90. 2003
    ....
  43. ncbi Evolutionary and biomedical insights from the rhesus macaque genome
    Richard A Gibbs
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
    Science 316:222-34. 2007
    ..The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species...
  44. ncbi Detection of ALK gene rearrangement in non-small cell lung cancer: a comparison of fluorescence in situ hybridization and chromogenic in situ hybridization with correlation of ALK protein expression
    Hyojin Kim
    Department of Pathology, Seoul National University College of Medicine, Seoul, Korea
    J Thorac Oncol 6:1359-66. 2011
    ..This study evaluates the concordance between ALK gene rearrangement in non-small cell lung cancer assessed by ALK FISH and a newly developed ALK chromogenic in situ ..
  45. pmc Germ line transcripts are processed by a Dicer-like protein that is essential for developmentally programmed genome rearrangements of Tetrahymena thermophila
    Colin D Malone
    Biology Department, Washington University, St Louis, MO 63130, USA
    Mol Cell Biol 25:9151-64. 2005
    ....
  46. pmc Maternal noncoding transcripts antagonize the targeting of DNA elimination by scanRNAs in Paramecium tetraurelia
    Gersende Lepère
    Ecole Normale Superieure, Laboratoire de Genetique Moleculaire, Centre 75005 Paris, France
    Genes Dev 22:1501-12. 2008
    ....
  47. ncbi Efficient sorting of genomic permutations by translocation, inversion and block interchange
    Sophia Yancopoulos
    The Feinstein Institute for Medical Research North Shore LIJ Health System, Manhasset, NY 11030, USA
    Bioinformatics 21:3340-6. 2005
    ..We seek a universal operation underlying a more inclusive set of evolutionary operations and yielding a tractable genomic distance with simple mathematical form...
  48. ncbi MicroRNA-650 expression is influenced by immunoglobulin gene rearrangement and affects the biology of chronic lymphocytic leukemia
    Marek Mraz
    Center of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic
    Blood 119:2110-3. 2012
    ..This study underscores the importance of miR-650 in CLL biology and normal B-cell physiology...
  49. ncbi Multiple rearrangements in mitochondrial genomes of Isopoda and phylogenetic implications
    Fabian Kilpert
    Institute of Evolutionary Biology and Ecology, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
    Mol Phylogenet Evol 64:106-17. 2012
    ..In addition to increased taxon sampling secondary structure, modification in tRNAs and GC-skew inversion may be potentially fruitful subjects for future mt genome studies in a phylogenetic context...
  50. pmc Mitogenomic sequences and evidence from unique gene rearrangements corroborate evolutionary relationships of myctophiformes (Neoteleostei)
    Jan Y Poulsen
    Natural History Collections, University Museum of Bergen, University of Bergen, Allegaten 41, P O Box 7800, Bergen N 5020, Norway
    BMC Evol Biol 13:111. 2013
    ..This study attempts to resolve major myctophiform phylogenies from both mitogenomic sequences and corroborating evidence in the form of unique mitochondrial gene order rearrangements...
  51. ncbi Nowa1p and Nowa2p: novel putative RNA binding proteins involved in trans-nuclear crosstalk in Paramecium tetraurelia
    Mariusz Nowacki
    Laboratoire de Genetique Moleculaire, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8541, Ecole Normale Superieure, 46 rue d Ulm, 75005 Paris, France
    Curr Biol 15:1616-28. 2005
    ....
  52. ncbi Histologic and cytomorphologic features of ALK-rearranged lung adenocarcinomas
    Michiya Nishino
    Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Mod Pathol 25:1462-72. 2012
    ..However, morphologic screening alone will not detect a minority of ALK+ lung adenocarcinomas, and the routine use of ancillary studies may be warranted to identify all patients who may benefit from crizotinib treatment...
  53. ncbi The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages
    M De Weers
    Department of Immunohematology, University Hospital, The Netherlands
    Eur J Immunol 23:3109-14. 1993
    ..from early precursor-B cell stages preceding Ig rearrangement up to mature B cells, supports the hypothesis that the XLA defect resides in a critical step of B cell development which is independent of the Ig gene recombination machinery...
  54. ncbi Characterization of rearrangements involving the ALK gene reveals a novel truncated form associated with tumor aggressiveness in neuroblastoma
    Alex Cazes
    INSERM U830, Institut Curie, Centre de Recherche, Paris, France
    Cancer Res 73:195-204. 2013
    ..These results indicate that genomic rearrangements constitute an alternative mechanism to ALK point mutations resulting in receptor activation...
  55. pmc Identification of targetable FGFR gene fusions in diverse cancers
    Yi Mi Wu
    Michigan Center for Translational Pathology, University of Michigan Medical School, 1400 E Medical Center Drive 5316 CCGC, Ann Arbor, MI 48109 5940, USA
    Cancer Discov 3:636-47. 2013
    ....
  56. ncbi Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
    Jeroen G Noordzij
    Department of Immunology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Blood 101:1446-52. 2003
    ..The completeness of this arrest illustrates the importance of Artemis at this stage of lymphoid differentiation...
  57. ncbi Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  58. pmc A functional role for transposases in a large eukaryotic genome
    Mariusz Nowacki
    Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ 08544, USA
    Science 324:935-8. 2009
    ..This study suggests a new important role in Oxytricha for this large portion of genomic DNA that was previously thought of as junk...
  59. ncbi Complete nucleotide sequence of the mitochondrial genome of Schlegel's tree frog Rhacophorus schlegelii (family Rhacophoridae): duplicated control regions and gene rearrangements
    Naomi Sano
    Institute for Amphibian Biology, Graduate School of Science, Hiroshima University, Higashihiroshima, Japan
    Genes Genet Syst 80:213-24. 2005
    ..schlegelii and B. buergeri. Based on parsimonious consideration and the basal phylogenetic position of B. buergeri, these genes seemed to have been rearranged in an ancestral lineage leading to Rh. schlegelii...
  60. pmc Recovering genome rearrangements in the mammalian phylogeny
    Hao Zhao
    Computational and Mathematical Biology, Genome Institute of Singapore, Singapore
    Genome Res 19:934-42. 2009
    ..Together, this substantiates the model that regions of high sequence identity have been associated with rearrangement events throughout the mammalian phylogeny...
  61. pmc Hsp-27 expression at diagnosis predicts poor clinical outcome in prostate cancer independent of ETS-gene rearrangement
    C S Foster
    Division of Cellular Pathology and Molecular Genetics, University of Liverpool, Duncan Building, Daulby Street, Liverpool L69 3GA, UK
    Br J Cancer 101:1137-44. 2009
    ..This study was performed to test the hypothesis that expression of small heat shock protein Hsp-27 is, at diagnosis, a reliable predictive biomarker of clinically aggressive prostate cancer...
  62. ncbi Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination
    Sana Aissi-Ben Moussa
    Laboratoire de Biochimie et Biologie Moleculaire, Faculte des Sciences de Tunis, Tunis, Tunisia
    Fam Cancer 8:119-26. 2009
    ..This germline MLH1 rearrangement was associated to a severe phenotype in this family. This is the first report of a molecular analysis in a Tunisian family with HNPCC...
  63. ncbi Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families
    Peter Kang
    Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 2nd Floor, Outpatient Centre, 1 Jalan SS12 1A, Subang Jaya, 47500, Selangor, Malaysia
    Breast Cancer Res Treat 124:579-84. 2010
    ..In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2...
  64. pmc Stability of related human and chicken Campylobacter jejuni genotypes after passage through chick intestine studied by pulsed-field gel electrophoresis
    M L Hänninen
    Department of Food and Environmental Hygiene, The Haartman Institute, 00231 Helsinki, Finland
    Appl Environ Microbiol 65:2272-5. 1999
    ..Serotype 27 of strain BTI remained stable. Our study suggests that during intestinal colonization, genomic rearrangement, as demonstrated by changed PFGE and ribopatterns, may occur...
  65. pmc Gene rearrangement analysis and ancestral order inference from chloroplast genomes with inverted repeat
    Feng Yue
    Department of Computer Science and Engineering, University of South Carolina, Columbia, SC 29208, USA
    BMC Genomics 9:S25. 2008
    ..Since conserved duplicated regions are present in many chloroplast genomes, the inference of inverted repeats is needed in chloroplast phylogeny analysis and ancestral genome reconstruction...
  66. ncbi The endless tale of non-homologous end-joining
    Eric Weterings
    Department of Radiation Oncology, Division of Molecular Radiation Biology, University of Texas Southwestern Medical Center, 2201 Inwood Road, Dallas, TX 75390 9187, USA
    Cell Res 18:114-24. 2008
    ..In this review, all the known enzymes that play a role in the NHEJ process are discussed and a working model for the co-operation of these enzymes during DSB repair is presented...
  67. ncbi Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization
    Kayuri U Patel
    Department of Pathology at Texas Children s Hospital and Baylor College of Medicine, Houston, TX 77030, USA
    Hum Pathol 39:184-93. 2008
    ..Its detection may be particularly helpful in the differential diagnosis of atypical, fibrosarcomatous, and metastatic DFSP...
  68. ncbi ERG gene rearrangement status in prostate cancer detected by immunohistochemistry
    Sara Moscovita Falzarano
    Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA
    Virchows Arch 459:441-7. 2011
    ..Given the high yield and the easier task of performing immunohistochemistry vs. FISH, ERG assessment by immunohistochemistry may be useful for characterizing ERG status in prostate cancer...
  69. ncbi Gene rearrangements in snake mitochondrial genomes: highly concerted evolution of control-region-like sequences duplicated and inserted into a tRNA gene cluster
    Y Kumazawa
    Department of Earth and Planetary Sciences, Nagoya University, Japan
    Mol Biol Evol 13:1242-54. 1996
    ..The secondary structures of the determined tRNA genes point to the operation of simplification pressure on the T psi C arm of snake mitochondrial tRNAs...
  70. pmc The Paramecium germline genome provides a niche for intragenic parasitic DNA: evolutionary dynamics of internal eliminated sequences
    Olivier Arnaiz
    CNRS UPR3404 Centre de Génétique Moléculaire, Gif sur Yvette, France
    PLoS Genet 8:e1002984. 2012
    ....
  71. pmc ALK-positive large B-cell lymphomas with cryptic SEC31A-ALK and NPM1-ALK fusions
    Katrien Van Roosbroeck
    Center for Human Genetics, K U Leuven, Gasthuisberg, Herestraat 49, Box 602, B 3000 Leuven, Belgium
    Haematologica 95:509-13. 2010
    ....
  72. ncbi Insertion sequence-driven evolution of Escherichia coli in chemostats
    Joël Gaffé
    Laboratoire Adaptation et Pathogenie des Microorganismes, Universite Joseph Fourier Grenoble 1, BP 170, 38042, Grenoble Cedex 9, France
    J Mol Evol 72:398-412. 2011
    ..Therefore, IS elements strongly influenced the evolutionary processes in continuous E. coli cultures by providing a way to modify both the global regulatory network and the mutation rates of evolving cells...
  73. ncbi Quantitative trait analysis of seed yield and other complex traits in hybrid spring rapeseed (Brassica napus L.): 1. Identification of genomic regions from winter germplasm
    Pablo A Quijada
    Plant Breeding and Plant Genetics Program, and Department of Agronomy, University of Wisconsin, Madison, WI 53706, USA
    Theor Appl Genet 113:549-61. 2006
    ..napus and could account for a portion of the heterotic effects in hybrids...
  74. ncbi Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225
    Grant A McArthur
    Peter MacCallum Cancer Centre, East Melbourne, Australia
    J Clin Oncol 23:866-73. 2005
    ..The purpose of this study was to evaluate molecular, cytogenetic, and kinase activation profiles in a series of DFSPs and to determine whether these biologic parameters are correlated with the clinical responses of DFSP to imatinib...
  75. ncbi Activity of IPI-504, a novel heat-shock protein 90 inhibitor, in patients with molecularly defined non-small-cell lung cancer
    Lecia V Sequist
    Massachusetts General Hospital Cancer Center, Boston, MA 02114, USA
    J Clin Oncol 28:4953-60. 2010
    ..We studied the activity of IPI-504 after epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) therapy in patients with advanced, molecularly defined non-small-cell lung cancer (NSCLC)...
  76. pmc Selection upon genome architecture: conservation of functional neighborhoods with changing genes
    Fatima Al-Shahrour
    Department of Bioinformatics and Genomics, Centro de Investigación Príncipe Felipe CIPF, Valencia, Spain
    PLoS Comput Biol 6:e1000953. 2010
    ..The picture arising from this study is a dynamic genomic landscape with a high level of functional organization...
  77. pmc Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs
    Benedict Paten
    Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California 95064, USA
    Genome Res 18:1814-28. 2008
    ..Alignments from our pipeline are publicly available within the Ensembl genome browser...
  78. pmc Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution
    Lucia Carbone
    Children s Hospital and Research Center Oakland, Oakland, California, United States of America
    PLoS Genet 5:e1000538. 2009
    ..The association between undermethylation and chromosomal rearrangement in gibbons suggests a correlation between epigenetic state and structural genome variation in evolution...
  79. pmc Defining regions and rearrangements of the Silene latifolia Y chromosome
    R Bergero
    Institute of Evolutionary Biology, University of Edinburgh, Ashworth Laboratories, Edinburgh EH9 3JT, United Kingdom
    Genetics 178:2045-53. 2008
    ..Future deletion mapping work should ensure that markers are studied in the parents of deletion mutants and should probably include additional deletions that were not ascertained by causing mutant sex phenotypes...
  80. ncbi Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
    Michelle D Sluiter
    Department of Genetics, University of Pretoria, Pretoria, 0001, South Africa
    Breast Cancer Res Treat 125:325-49. 2011
    ..Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future...
  81. ncbi T-cell receptor excision circle and T-cell dynamics after allogeneic stem cell transplantation are related to clinical events
    Mette D Hazenberg
    Department of Clinical Viro Immunology, CLB Sanquin, Amsterdam, The Netherlands
    Blood 99:3449-53. 2002
    ..Blood. 2002;99:3449-3453)..
  82. pmc Breakpoint graphs and ancestral genome reconstructions
    Max A Alekseyev
    Department of Computer Science and Engineering, University of California at San Diego, La Jolla, CA 92093 0404, USA
    Genome Res 19:943-57. 2009
    ..MGRA also generates the rearrangement-based characters guiding the phylogenetic tree reconstruction when the phylogeny is unknown...
  83. pmc EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene
    Cristina R Antonescu
    Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York City, NY 10021, USA
    Genes Chromosomes Cancer 49:1114-24. 2010
    ..A few reports have indicated EWSR1 gene rearrangement in soft tissue ME tumors, and, in one case each, the fusion partner was identified as either PBX1 or ZNF444...
  84. ncbi Genetic variation: molecular mechanisms and impact on microbial evolution
    W Arber
    Biozentrum, University of Basel, Klingelbergstrasse 70, CH 4056, Basel, Switzerland
    FEMS Microbiol Rev 24:1-7. 2000
    ..Rather, a steady interplay between natural selection and mixed populations of genetic variants gives microbial evolution its direction...
  85. ncbi ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases
    Randy D Gascoyne
    Department of Oncogeneiss and Signaling in Hematopoietic Cells, Instiut National de la Santé et de la Recherche Médicale U 563, Centre de Physiopatholgie de Toulouse Purpan, France
    Blood 102:2568-73. 2003
    ....
  86. pmc Additions, losses, and rearrangements on the evolutionary route from a reconstructed ancestor to the modern Saccharomyces cerevisiae genome
    Jonathan L Gordon
    Smurfit Institute of Genetics, Trinity College, Dublin, Ireland
    PLoS Genet 5:e1000485. 2009
    ..Many of the gained genes in S. cerevisiae have functions associated with ethanol production, growth in hypoxic environments, or the uptake of alternative nutrient sources...
  87. pmc Genome-wide comparative analysis of the Brassica rapa gene space reveals genome shrinkage and differential loss of duplicated genes after whole genome triplication
    Jeong Hwan Mun
    Department of Agricultural Biotechnology, National Academy of Agricultural Science, Rural Development Administration, 150 Suin ro, Gwonseon gu, Suwon 441 707, Korea
    Genome Biol 10:R111. 2009
    ..rapa, which is a strong challenge of structural and comparative crop genomics...
  88. pmc Genome dynamics of Campylobacter jejuni in response to bacteriophage predation
    Andrew E Scott
    Division of Food Sciences, University of Nottingham, Loughborough, United Kingdom
    PLoS Pathog 3:e119. 2007
    ..jejuni exists in vivo as families of related meta-genomes generated to survive local environmental pressures...
  89. pmc S locus genes and the evolution of self-fertility in Arabidopsis thaliana
    Sue Sherman-Broyles
    Department of Plant Biology, Cornell University, Ithaca, New York 14853, USA
    Plant Cell 19:94-106. 2007
    ..Furthermore, analysis of SRK and SCR polymorphisms in these accessions argues against the occurrence of a selective sweep of a particular allele of SCR, as previously proposed...
  90. ncbi Complete DNA sequence of a serogroup A strain of Neisseria meningitidis Z2491
    J Parkhill
    The Sanger Centre, The Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Nature 404:502-6. 2000
    ..Many of these repeats appear to be involved in genome fluidity and antigenic variation in this important human pathogen...
  91. pmc Regulation of B cell fate commitment and immunoglobulin heavy-chain gene rearrangements by Ikaros
    Damien Reynaud
    Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Immunol 9:927-36. 2008
    ..Thus, Ikaros is an obligate component of a network that regulates B cell fate commitment and immunoglobulin heavy-chain gene recombination...
  92. ncbi Remembrance of things past retrieved from the Paramecium genome
    Linda Sperling
    Centre de Genetique Moleculaire, CNRS UPR3404, Avenue de la Terrasse, 91198 Gif sur Yvette, France
    Res Microbiol 162:587-97. 2011
    ....
  93. ncbi Dual IHC and FISH testing for ALK gene rearrangement in lung adenocarcinomas in a routine practice: a French study
    Anne McLeer-Florin
    Plateforme hospitalière de Génétique Moléculaire des Cancers, Department of Hematology, Onco Genetics and Immunology, Päle de Biologie et de Pathologie, CHU A Michallon, Grenoble, France
    J Thorac Oncol 7:348-54. 2012
    ....
  94. ncbi Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer
    Milo Frattini
    Department of Pathology, Experimental Molecular Pathology, Istituto Nazionale Tumori, Milan, Italy
    Oncogene 23:7436-40. 2004
    ..However, a supervised analysis of the obtained data identified a subset of genes differentially expressed in tumors carrying BRAF mutation or RTK rearrangement...
  95. pmc Ecdysozoan mitogenomics: evidence for a common origin of the legged invertebrates, the Panarthropoda
    Omar Rota-Stabelli
    Department of Genetics, Evolution and Environment, University College London, London, United Kingdom
    Genome Biol Evol 2:425-40. 2010
    ..The same analyses also recover monophyly of traditionally recognized arthropod lineages such as Arachnida and of the highly debated clade Mandibulata...
  96. pmc A novel method for interpretation of T-cell receptor gamma gene rearrangement assay by capillary gel electrophoresis based on normal distribution
    Frank C Kuo
    Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
    J Mol Diagn 9:12-9. 2007
    T-cell receptor gamma (TRG) gene rearrangement status is useful for the differential diagnosis of T-cell lesions...
  97. pmc Multichromosomal median and halving problems under different genomic distances
    Eric Tannier
    INRIA Rhone Alpes, Inovallée, Montbonnot, Saint Ismier Cedex, France
    BMC Bioinformatics 10:120. 2009
    ....
  98. ncbi Recurrent chromosomal rearrangements at bands 8q24 and 11q13 in gastric cancer as detected by multicolor spectral karyotyping
    Yasuhide Yamashita
    Department of Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kamigyo ku, Kyoto 602 8566, Japan
    World J Gastroenterol 11:5129-35. 2005
    ..To identify chromosomal translocations specific to gastric cancer (GC), spectral karyotyping (SKY) analysis was performed on established cell lines and cancerous ascitic fluids...
  99. ncbi Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome
    Etienne Rouleau
    Centre Rene Huguenin, Laboratoire d oncogénétique, Institut Nationale de la Santé et de la Recherche Médicale INSERM U735, Saint Cloud, France
    Hum Mutat 30:867-75. 2009
    ..In replicate, its reagent cost, sensitivity, and specificity are comparable to those of dHPLC+MLPA techniques. However, qPCR HRM outperformed the other techniques in terms of its rapidity and amount of data provided...
  100. ncbi Favorable response to crizotinib in three patients with echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase fusion-type oncogene-positive non-small cell lung cancer
    Takashi Kijima
    Department of Respiratory Medicine, Allergy and Rheumatic Diseases, Osaka University Graduate School of Medicine, Osaka, Japan
    Cancer Sci 102:1602-4. 2011
    ..In the present study, we report on three cases harboring EML4-ALK rearrangement who were enrolled in the trial (A8081001, NCT00585195). All three patients showed favorable responses to the ALK-specific tyrosine kinase inhibitor...
  101. ncbi The evolution of adaptive immune systems
    Max D Cooper
    Division of Developmental and Clinical Immunology, Departments of Medicine, Microbiology, Pediatrics, and Pathology, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Cell 124:815-22. 2006
    ..The convergent evolution of these remarkably different adaptive immune systems involved innovative genetic modification of innate-immune-system components...

Research Grants64

  1. Role of the developmental regulator Gon4-like in B lymphopoiesis
    JOHN D COLGAN; Fiscal Year: 2011
    ..several DNA-binding proteins is primarily responsible for regulating gene transcription and immunoglobulin gene rearrangement during B cell development...
  2. Pre-B cell receptor signaling in acute lymphoblastic leukemia
    MARKUS MUSCHEN; Fiscal Year: 2013
    ..proposal on 148 cases of pre-B cell-derived human ALL, we found that ALL cells carrying an E2A-PBX1- or MYC- gene rearrangement are -like normal pre-B cells- highly selected for the expression of a functional pre-B cell receptor...
  3. Mechanistic and Structure-Function Studies of Human DNA Polymerase Lambda
    Zucai Suo; Fiscal Year: 2011
    ..Very recently, Pol;has been found to affect immunoglobulin heavy chain gene rearrangement in Pol;-deficient mice, to protect mouse embryonic fibroblasts against oxidative damage, and to be recruited ..
  4. Transcriptional Functions and Targets of the MMSET Protein of t(4:14) Myeloma
    Jonathan Licht; Fiscal Year: 2013
    ..This gene rearrangement leads to the transcriptional activation and overexpression of the FGFR3 gene and the MMSET gene, however in ..
  5. Il-7 receptor signaling in lymphopoiesis
    Motonari Kondo; Fiscal Year: 2010
    ..proliferation, protection from apoptotic cell death, and the induction of lineage-specific events, such as gene rearrangement in antigen receptor loci...
  6. Immuno-pathophysiology of Lymphocytic Foci in Sjogren?s Syndrome
    Cuong Q Nguyen; Fiscal Year: 2013
    ..the labial salivary glands (LSG) of SjS patients, and 2) identifying the T cell receptor (TCR)-P gene rearrangement of Individual IL-22 secreting cells in LSG of SjS patients...
  7. Role Of Nuclear Organization In Protecting Genome Stability During Recombination
    JANE AMANDA SKOK; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Tight control of antigen-receptor gene rearrangement is required to preserve genome integrity and prevent the occurrence of damage and translocations that lead to leukemia and lymphoma...
  8. INTEGRATION OF DNA DAMAGE RESPONSES WITH IMMUNE DEVELOPMENT AND FUNCTION
    Jeffrey J Bednarski; Fiscal Year: 2013
    ..paradoxically activate survival pathways that are important to ensure adequate time for antigen receptor gene rearrangement. However, if DNA breaks cannot be repaired, the same DNA damage responses trigger cell death to prevent ..
  9. Mechanisms of B Cell Survival and Death
    Roberta Pelanda; Fiscal Year: 2011
    ..of a specific, effective and innocuous B cell repertoire also relies on the signals that stop further Ig gene rearrangement upon expression of non- autoreactive BCRs and mediate immunoglobulin allelic/isotypic exclusion...
  10. NORMAL AND MUTANT LYMPHOID V(D)J RECOMBINASE
    Michael R Lieber; Fiscal Year: 2011
    ..Children born with a defect at any step of this gene rearrangement process have severe combined immune deficiency (SCID)...
  11. FUNCTION OF THE SUBUNITS OF EUKARYOTIC CHROMOSOMES
    WILLIAM GARRARD; Fiscal Year: 2013
    ..A powerful enhancer (Ed) in the distal downstream region, which is always preserved after normal V? gene rearrangement. Importantly, we showed during the last funding cycle that this element is required for generating maximal ..
  12. Role of CTCF and Cohesin in V(D)J Rearrangement
    Ann J Feeney; Fiscal Year: 2013
    ..proteins (YY1, Pax5, Ezh2) which have been found to be essential for Vh locus contraction and for distal Vh gene rearrangement, as well as for SATB1, which is known to be involved in chromosomal looping via matrix binding...
  13. Regulation of MHC Dependence of gamma delta T cells
    David H Raulet; Fiscal Year: 2010
    ..In the case of gamma/deltaT cells, a strikingly coordinated process of programmed gene rearrangement and cellular selection acts between the early fetal and adult stages within the thymus, to generate the ..
  14. Developmental Control of Enhancer Function
    Michael L Atchison; Fiscal Year: 2013
    ..earliest epigenetic events that lead to large-scale Ig locus contraction, transcriptional activation, and Ig gene rearrangement during B cell development...
  15. GENETICS AND REGULATION OF AUTOANTIBODIES
    Martin G Weigert; Fiscal Year: 2011
    ..These clones diversify by somatic mutation and V gene rearrangement to develop B cells that secrete pathogenic autoantibodies...
  16. The role of E-proteins in B cell development
    Cornelis Murre; Fiscal Year: 2013
    ..In pre-B cells, the E2A proteins activate Ig: VJ gene rearrangement. In the immature-B cell compartment the E2A proteins induce receptor editing...
  17. PROGRAM PROJECT GRANT: Molecular Targets of Germinal Center B-Cell Lymphomas
    Margaret A Shipp; Fiscal Year: 2011
    ..in this competitive renewal application: 1) defects in DMA damage repair and deregulated immunoglobulin gene rearrangement predispose to oncogenic translocations and the development of lymphomas (F...
  18. Behavioral Genomics of the White-throated Sparrow
    ELAINA M contact TUTTLE; Fiscal Year: 2010
    ..In addition, our results will provide insight into other genetic traits (e.g. disease) associated with gene rearrangement.
  19. CLONAL DOMINANCE OF T-LYMPHOCYTES IN ARTHRITIS
    JAMES KURNICK; Fiscal Year: 1991
    ..in interleukin 2 to obtain sufficient numbers of cells to evaluate the phenotype and T cell receptor gene rearrangement of lymphocytes derived from the site of joint destruction...
  20. EPIDEMIOLOGY OF INFANT LEUKEMIA
    Julie Ross; Fiscal Year: 2007
    ..acute myeloid leukemia (AML) and 75% of infants with acute lymphoblastic leukemia (ALL) present with an MLL gene rearrangement in their leukemia cells. Molecular studies demonstrate that infant leukemia's arise in utero...
  21. EXPRESSION OF IMMUNOGLOBULIN GENES IN TRANSGENIC MICE
    Ursula Storb; Fiscal Year: 2000
    ..chain transgenes inhibit the development of B cells, because gamma2b causes strong feedback inhibition of H gene rearrangement, but cannot replace mu in nurturing preB cell maturation...
  22. DETECTION OF MINIMAL RESIDUAL DISEASE IN ACUTE LEUKEMIA
    Jerry Radich; Fiscal Year: 1993
    ..nucleotide sequences caused by immunoglobulin heavy chain (in B cells) or T cell receptor gamma (in T cells) gene rearrangement as a "fingerprint" of the malignant clone, in AML we will use the point mutation of the N-ras oncogene as ..
  23. Cell Sorting and Molecular Analysis for Minimal Disease Detection
    Barbara Zehentner; Fiscal Year: 2006
    ..be analyzed by standard molecular analysis protocols as indicated by the disease (Clonality profiling using gene rearrangement analysis for B-and T-cell leukemias and lymphomas; JAK2 point mutation for myeloproliferative disorders; ..
  24. TEL/AML1 FUSION IN PEDIATRIC ALL
    D Gilliland; Fiscal Year: 2000
    DESCRIPTION: (adapted verbatim from the investigator's abstract) TEL/AML1 is the most common gene rearrangement in pediatric acute lymphoblastic leukemia (ALL), accounting for approximately 25% of cases...
  25. E2A as a Tumor Suppressor
    Cornelis Murre; Fiscal Year: 2013
    ..E47 levels are high in T cell progenitors where they act to promote TCR[unreadable] gene rearrangement, induce the expression of genes involved in pre-TCR signaling and suppress proliferation...
  26. SIGNAL TRANSDUCTION BY TEL/TYROSINE KINASE FUSIONS
    David Sternberg; Fiscal Year: 2003
    ..cytogenetic abnormality in CMML is the t(5;12)(q33;pl3) chromosomal translocation, and the resulting gene rearrangement fuses the 5'- region of TEL to the gene encoding the protein-tyrosine kinase domain of the platelet-derived ..
  27. CONTROL OF IMMUNOGLOBULIN SYNTHESIS
    Ursula Storb; Fiscal Year: 2001
    ..2) Determination of the effect of target gene methylation in vitro on immunoglobulin gene rearrangement. 3) Investigation of a specific suppressor of immunoglobulin gene rearrangement...
  28. CONTROL OF IMMUNOGLOBULIN SYNTHESIS
    Ursula Storb; Fiscal Year: 1990
    ..2) Analysis of Ig gene rearrangement. Synthetic genes will be used to determine when Ig gene-like rearrangement has occurred after introduction ..
  29. BIOCHEMISTRY AND REGULATION OF V (D) J RECOMBINATION
    Mark Schlissel; Fiscal Year: 2004
    ..only in the B lineage and TCR genes only in the T lineage; b) within each lineage, antigen receptor gene rearrangement is highly ordered, with Ig mu and TCR beta rearrangement preceding Ig kappa and TCR alpha rearrangement for ..
  30. SOMATIC DNA RECOMBINATION IN ANTIBODY GENES
    Hitoshi Sakano; Fiscal Year: 1993
    ..have recently found that the 3'Ckappa region may contain a cis-acting DNA element(s) that restricts Ig kappa gene rearrangement to the pre-B stage of B cell development...
  31. FUNCTION OF MATRIX ATTACHMENT REGIONS IN THE IG LOCI
    ANN FEENEY; Fiscal Year: 2000
    ..studies suggest a role for the MARS in transcriptional enhancement, chromatin remodeling, demethylation, gene rearrangement and somatic hypermutation...
  32. ANTISENSE DRUG RESISTANT GENE THERAPY FOR CML
    Catherine Verfaillie; Fiscal Year: 2000
    ..Abstract) CML is malignant disease of the hematopoietic stem cell (HSC) characterized by the BCR/ABL gene rearrangement. The only curative treatment for most patients with CML is transplantation of HSC from an allogeneic donor...
  33. Mechanism of Facilitating Cell-Mediated Tx Tolerance
    Yolonda Colson; Fiscal Year: 2007
    ..Investigation into the dichotomy of CD3-TCR expression has revealed that TCR_3 gene rearrangement and expression does occur in the FC, but only in the context of a unique 33kD glycoprotein, named FCp33...
  34. BC1-2 REARRANGEMENTS IN CLL
    Louise Showe; Fiscal Year: 1992
    ..The bcl-2 gene rearrangement in CLL seems to be restricted to the 5' region of the bcl-2 gene which is in sharp contrast to the ..
  35. EARLY EVOLUTIONARY ORIGINS OF IMMUNOGLOBULIN GENES
    GARY LITMAN; Fiscal Year: 2003
    ..Relationships of gene transcription to gene rearrangement and precommitted germline-joining will be explored...
  36. Humoral immunodeficiency in cancer-prone SENCAR mice
    Andrea Bottaro; Fiscal Year: 2001
    ..be the direct effects of the same underlying mutation in one of the factors involved in antigen receptor gene rearrangement and DNA repair/cell cycle control, such as the cell cycle checkpoint regulator, atm (which is mutated in ..
  37. COMPUTATIONAL ANALYSIS OF HUMAN 'AT-RISK' DNA MOTIFS
    JUDITH STENGER; Fiscal Year: 2003
    ..The long term objective of this proposal is to gain insight into the genetic factors that mitigate gene rearrangement in hopes of predicting when the presence of a repetitive element truly constitutes a threat to the health of ..
  38. Biochemical/Molecular Changes Upon Naive T Cell Priming
    Thomas Gajewski; Fiscal Year: 2005
    ..model will utilize 2C TCR transgenic mice crossed to a Rag2 background, to extinguish endogenous TCR gene rearrangement and ensure a naive phenotype...
  39. CHROMATIN CHANGES DURING IMMUNOGLOBULIN GENE ACTIVATION
    Jesse Summers; Fiscal Year: 1990
    ..will allow discrimination between changes in chromatin structure and composition that occur prior to Ig gene rearrangement and transcription from those which occur as a result of transcription or rearrangement...
  40. MOLECULAR GENETICS OF HUMAN MULTIPLE MYELOMA
    MICHAEL WIILLIAMS; Fiscal Year: 1992
    ..A tumor producing only a light chain paraprotein, for example, may have non- functional heavy gene rearrangement as a result of protooncogene insertion at the heavy chain locus on chromosome 14, a genetic event well ..
  41. Receptor editing in development T cells
    KRISTIN HOGQUIST; Fiscal Year: 2007
    ..Here self-reactive clones undergo gene rearrangement at the TCR alpha locus to produce a new receptor chain that alters the specificity of the clone...
  42. Gene Therapy for Athabascan SCID
    R McIvor; Fiscal Year: 2009
    ..of humans resulting from absence of Artemis protein, required for nonhomologous end-joining in V(D)J gene rearrangement. Currently, the only effective therapy for SCIDA is allogeneic bone marrow transplant, for which there is a ..
  43. CONFERENCE ON SELF REACTIVITY AND ITS REGULATION
    Charles Fox; Fiscal Year: 1991
    ..the T cell receptor, molecules produced by the major histocompatibility complex, and detailed information on gene rearrangement, coupled with cellular/genetic analysis using flow cytometry and transgenic animals, have provided the tools ..
  44. B LINEAGE DEVELOPMENT OF HUMAN HEMATOPOIETIC PROGENITORS
    Daniel Ryan; Fiscal Year: 2000
    ..of normal and malignant cells, we will take advantage of an unequivocal differentiation endpoint, Ig gene rearrangement, and our ability to isolate unique populations containing clonogenic lymphoid progenitors which proliferate ..
  45. GENE REARRANGEMENT AND EXPRESSION IN T-CELL LEUKEMIA
    Rakesh Goorha; Fiscal Year: 2002
    ..We are now conducting a prospective study employing adequate number of patients to assess the use of this technique in predicting relapse, monitoring the efficacy of anti-leukemic therapy, and long-term survival. ..
  46. CONTROL OF GENE REARRANGEMENT IN DEVELOPING THYMOCYTES
    Steven Anderson; Fiscal Year: 1999
    ..These data will have profound implications for understanding how promoters and enhancers can act in concert to regulate large chromosomal regions in a tissue and stage specific manner. ..
  47. NF-KB-2 GENE REARRANGEMENT IN CUTANEOUS T-CELL LYMPHOMAS
    Arnold Rabson; Fiscal Year: 1999
    ..In HUT 78 cells, nfkb-2 gene rearrangement results in generation of a truncated p80 precursor protein (p80HT) as well as the mature p52 protein...
  48. MOLECULAR CYTOGENETIC OF DIFFUSE LARGE CELL LYMPHOMA
    Raju Chaganti; Fiscal Year: 2000
    ..A variety of cloning strategies including those based on IGH gene rearrangement, positional cloning, and identification of novel mRNA species fused 5' of mRNA of known rearranged genes by ..
  49. New models for RAG-mediated lymphomagenesis
    SANDRA SALUS; Fiscal Year: 2004
    ..There is evidence that aberrant V(D)J recombination, the process of antigen receptor gene rearrangement in lymphocytes, plays a role in the incidence of chromosome translocation events that lead to these cancers...
  50. COMPARATIVE ONTOGENETIC APPROACH TO VACCINE STRATEGY
    Max Cooper; Fiscal Year: 1999
    ..hypothesis that B cells can be generated by an alternative differentiation pathway, involving light chain gene rearrangement before the rearrangement of conventional heavy chain genes, will be tested...
  51. IMMUNIZATION WITH ANTIGENIZED VECTORS
    Swey Shen Chen; Fiscal Year: 2001
    ..IL-4 and CD40L mediate IgE gene rearrangement, and activation of IgE-committed B cells. IL-4 in turn sustains IgE production by skewing Th2 development...
  52. Molecular Interactions in B cell Development
    JAMES BALEJA; Fiscal Year: 2007
    ..b>Gene rearrangement and editing provide for antibody diversity, but can also result in improperly formed antibody chains...
  53. MOLECULAR STUDIES OF HUMAN GENETIC RECOMBINATION
    M Meyn; Fiscal Year: 1990
    ..Genetic recombination allows gene mapping and has been implicated in immunoglobulin gene rearrangement, DNA repair, gene amplification, the initial development of cancer, and the prevention of aneuploidy with ..
  54. T CELL ORIGIN AND FUNCTION
    CHEN LO CHEN; Fiscal Year: 2001
    ..the controversial issue of an extrathymic origin for T-cells in mucosal epithelium, a search for in situ TCR gene rearrangement will be conducted...
  55. REGULATION OF DNA REARRANGEMENT IN B LYMPHOCYTES
    David Weaver; Fiscal Year: 1992
    ..ii) to study the direct or indirect role of mu chains in allelic exclusion and activation of kappa gene rearrangement by characterizing specific protein interactions and intracellular localization of mu chains during the B ..
  56. Receptor editing, Autoimmunity and Free Light Chain Pro*
    Martin Weigert; Fiscal Year: 2005
    ..by receptor editing, a process that revises genes that code for autoreactive receptors by secondary V gene rearrangement. We think that once editing creates a receptor that does not bind a self-antigen, rearrangement stops...
  57. MOLECULAR ANALYSIS OF THE ANTIH INFLUENZAE RESPONSE
    ANN FEENEY; Fiscal Year: 2001
    ..We will also further analyze the diversity in the ani-hib response through the use of combinatorial libraries, correlating affinity with the Vh, Vk and CDR3's which are used. ..
  58. Receptor Editing in Autoimmune and Normal Mice
    ANN FEENEY; Fiscal Year: 2009
    ..The information gained in these aims should give insights into the response of the various Ig loci to receptor editing signals, and how these processes may potentially be misregulated in B cells of autoimmune mice. ..
  59. Identification of Tetrahymena DNA Rearrangement Genes
    DOUGLAS LEE CHALKER; Fiscal Year: 2010
    ..abstract_text> ..
  60. Control of Accessibility for V(D) J Recombination
    ANN FEENEY; Fiscal Year: 2006
    ..We will determine if other transcription factors such as Pax5 or Btk will induce rearrangement of other Ig loci, such as Vh or lambda. ..
  61. B CELL REPERTOIRE FORMATION
    ANN FEENEY; Fiscal Year: 2009
    ..Together, these studies should give insight into the epigenetic mechanisms and cis-elements which control VH gene rearrangement in fetal and adult pro-B cells.
  62. Molecular basis of the craniofacial anomalies in SMS
    JAMES LUPSKI; Fiscal Year: 2006
    ..Furthermore, our investigations will likely aid in the understanding of the genetic regulation of normal craniofacial development as well as the development of anomalies associated with SMS. ..
  63. Transcriptional Control of AICDA Expression
    Ferenc Livak; Fiscal Year: 2005
    ..abstract_text> ..
  64. CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
    JAMES LUPSKI; Fiscal Year: 2005
    ..abstract_text> ..