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Chromothripsis

Methods and Protocols

  • Book
  • © 2018

Overview

Editors:
  1. Franck Pellestor

    1. Unit of Chromosomal Genetics, Department of Medical Genetics, CHU Montpellier, Montpellier, France

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  • Includes cutting-edge methods and protocols for the study of chromothripsis
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

Part of the book series: Methods in Molecular Biology (MIMB, volume 1769)

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Table of contents (22 protocols)

  1. Front Matter

    Pages i-xi
    Download chapter PDF

  2. Genesis and Impact of Chromothripsis

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. The Genomic Characteristics and Origin of Chromothripsis

      • Alessio Marcozzi, Franck Pellestor, Wigard P. Kloosterman
      Pages 3-19

    3. Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events

      • Maki Fukami, Hiroki Kurahashi
      Pages 21-33

    4. Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo

      • Franck Pellestor, Vincent Gatinois
      Pages 35-41

    5. Chromothripsis and the Macroevolution Theory

      • Franck Pellestor
      Pages 43-49

  3. The Identification of Chromothripsis

    1. Front Matter

      Pages 51-51
      Download chapter PDF

    2. Analysis of Chromothripsis by Combined FISH and Microarray Analysis

      • Ruth N. MacKinnon
      Pages 53-77

    3. Chromothripsis Detectable in Small Supernumerary Marker Chromosomes (sSMC) Using Fluorescence In Situ Hybridization (FISH)

      • Thomas Liehr
      Pages 79-84

    4. Identification of Chromothripsis in Biopsy Using SNP-Based Microarray

      • Veronica Ortega, Christina Mendiola, Gopalrao V. N. Velagaleti
      Pages 85-117

    5. Detection of Chromothripsis in Plants

      • Isabelle M. Henry, Luca Comai, Ek Han Tan
      Pages 119-132

    6. RNA-Seq Analysis to Detect Abnormal Fusion Transcripts Linked to Chromothripsis

      • Anne-Laure Bougé, Florence Rufflé, Sébastien Riquier, Benoit Guibert, Jérôme Audoux, Thérèse Commes
      Pages 133-156

  4. The Causal Mechanisms of Chromothripsis

    1. Front Matter

      Pages 157-157
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    2. Experimental Determination of Checkpoint Adaptation by Mitotic Shake-Off and Microscopy

      • Lucy H. Swift, Roy M. Golsteyn
      Pages 159-168

    3. A Role for Retrotransposons in Chromothripsis

      • Dustin C. Hancks
      Pages 169-181

    4. Generation of Micronuclei and Detection of Chromosome Pulverization

      • Monique N. H. Luijten, Jeannie X. T. Lee, Sixun Chen, Karen C. Crasta
      Pages 183-195

    5. Detection of Impaired DNA Replication and Repair in Micronuclei as Indicators of Genomic Instability and Chromothripsis

      • Mariona Terradas, Marta Martín, Anna Genescà
      Pages 197-208

    6. Study of Telomere Dysfunction in TP53 Mutant LoVo Cell Lines as a Model for Genomic Instability

      • Oumar Samassekou, Nathalie Bastien, Ju Yan, Sabine Mai, Régen Drouin
      Pages 209-230

    7. Genes, Proteins, and Biological Pathways Preventing Chromothripsis

      • Martin Poot
      Pages 231-251

    8. Expression of Genes Associated with Telomere Homeostasis in TP53 Mutant LoVo Cell Lines as a Model for Genomic Instability

      • Oumar Samassekou, Nathalie Bastien, Ju Yan, Sabine Mai, Régen Drouin
      Pages 253-262
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Keywords

About this book

This detailed book presents an up-to-date view on methods and experimental approaches developed to identify and explore the chromothripsis phenomenon. Beginning with a section exploring the genesis and impact of chromothripsis, the collection continues by covering the identification of chromothripsis, the causal mechanisms of chromothripsis, the bioinformatics tools for chromothripsis analysis, and experimental systems recently developed for the in vitro investigation of chromothripsis. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. 

Authoritative and practical, Chromothripsis: Methods and Protocols serves as a vital resource for cell biologists, molecular biologists, cytogeneticists, and geneticists investigating chromothripsis, but also for students and researchers new to the field of chromothripsis and genomic instability.

Editors and Affiliations

  • Unit of Chromosomal Genetics, Department of Medical Genetics, CHU Montpellier, Montpellier, France

    Franck Pellestor

Bibliographic Information

  • Book Title: Chromothripsis

  • Book Subtitle: Methods and Protocols

  • Editors: Franck Pellestor

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-4939-7780-2

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC, part of Springer Nature 2018

  • Hardcover ISBN: 978-1-4939-7779-6Published: 21 March 2018

  • Softcover ISBN: 978-1-4939-9283-6Published: 10 December 2019

  • eBook ISBN: 978-1-4939-7780-2Published: 21 March 2018

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XI, 367

  • Number of Illustrations: 12 b/w illustrations, 73 illustrations in colour

  • Topics: Human Genetics

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