The Functional Nucleus

This book gives an in-depth overview on nuclear structure and function. It clearly shows that the epigenome and the three-dimensional organization of the nucleus are not independent properties. The intimate relationship between the location and the e

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Functional Nucleus

The Functional Nucleus

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David P. Bazett-Jones • Graham Dellaire Editors

The Functional Nucleus

Editors David P. Bazett-Jones Genetics and Genome Biology The Hospital for Sick Children Toronto, Ontario Canada

Graham Dellaire Dalhousie University Halifax, Nova Scotia Canada

ISBN 978-3-319-38880-9 ISBN 978-3-319-38882-3 DOI 10.1007/978-3-319-38882-3

(eBook)

Library of Congress Control Number: 2016951228 © Springer International Publishing Switzerland 2016 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG Switzerland

Contents

Part I

Nuclear Periphery

Human Diseases Related to Nuclear Envelope Proteins . . . . . . . . . . . . . Howard J. Worman Part II

3

Nuclear Bodies

The Nucleolus: Structure and Function . . . . . . . . . . . . . . . . . . . . . . . . . Marie-Line Dubois and Franc¸ois-Michel Boisvert

29

Pre-mRNA Splicing and Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Michael R. Ladomery and Sebastian Oltean

51

Acute Promyelocytic Leukaemia: Epigenetic Function of the PML-RARα Oncogene . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Julia P. Hofmann and Paolo Salomoni Part III

71

Chromosomes

Spatial Genome Organization and Disease . . . . . . . . . . . . . . . . . . . . . . . 101 Karen J. Meaburn, Bharat Burman, and Tom Misteli Telomeres and Chromosome Stability . . . . . . . . . . . . . . . . . . . . . . . . . . 127 Tsz Wai Chu and Chantal Autexier Part IV

Nuclear Domains and Development

Polycomb Bodies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 157 Vincenzo Pirrotta The Continuing Flight of Ikaros . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 175 Karen E. Brown

v

vi

Part V

Contents

Nuclear Domains and Cell Stress

Senescence Associated Heterochromatic Fo