Exon Skipping Methods and Protocols
“Next generation” sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be ach
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IN
MOLECULAR BIOLOGY™
Series Editor John M. Walker School of Life Sciences University of Hertfordshire Hatfield, Hertfordshire, AL10 9AB, UK
For further volumes: http://www.springer.com/series/7651
Exon Skipping Methods and Protocols Edited by
Annemieke Aartsma-Rus Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Editor Annemieke Aartsma-Rus Department of Human Genetics Leiden University Medical Center Leiden, The Netherlands
ISSN 1064-3745 e-ISSN 1940-6029 ISBN 978-1-61779-766-8 e-ISBN 978-1-61779-767-5 DOI 10.1007/978-1-61779-767-5 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2012933585 © Springer Science+Business Media, LLC 2012 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Humana Press, c/o Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. Printed on acid-free paper Humana Press is part of Springer Science+Business Media (www.springer.com)
Preface It was discovered back in 1977 that for most genes the genetic code is dispersed over the gene. Before the messenger RNA can be translated into protein noncoding intron fragments have to be removed from RNA transcripts during a process called splicing. This complex process is coordinated by the splicing machinery, which consists of hundreds of proteins, and sequence motifs in introns and exons are important for recognition by splicing factors and proper processing of pre-mRNA into mRNA. Some exons are not always included in the mRNA depending, e.g., on the developmental state of an organism or the type of tissue (alternative splicing). Soon after the discovery of splicing, it became apparent that genetic mutations affecting splicing motifs or introducing “false” splicing motifs can disrupt splicing and underlie many genetic diseases. In addition, the disruption of alternative splicing can give rise to or exacerbate genetic and acquired disease processes. Due to their larger size, introns are generally not included in standard diagnostic protocols. Nevertheless, for multiple diseases it has been shown that deep intronic mutations can activate false splice sites, leading to the aberrant inclusion of a piece of intron into the mRNA. Furthermore, previously silent mutations (or substitutions) within an exon were often thought to be polymorphic. Now, it is recognized that these mutations can also cause an exon to be no longer recognized by the splicing machinery, lea
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