Transcriptomics in Health and Disease
After sequencing the human genome a decade ago, researchers have continued their projects, but now to try to better understand how, and when, genes are expressed in health and disease. Efforts have been concentrated on the measurement of the expression of
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Geraldo A. Passos Editor
Transcriptomics in Health and Disease
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Editor Geraldo A. Passos Department of Genetics University of São Paulo Ribeirão Preto São Paulo Brazil
Videos to this book can be accessed at http://www.springerimages.com/ videos/978-3-319-11984-7 ISBN 978-3-319-11984-7 ISBN 978-3-319-11985-4 (eBook) DOI 10.1007/978-3-319-11985-4 Library of Congress Control Number: 2014957482 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2014 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 Springer is part of Springer Science+Business Media (www.springer.com)
This book is dedicated to the Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Brazil, which in 2015 celebrates its 50 years of research, teaching and clinical activities.
Preface
The completion of the human genome, with its more than 3 billion base pairs (bp) of sequenced DNA, has provided an unprecedented wealth of knowledge. With the additional investigation of single nucleotide polymorphisms (SNPs), we have also learned how little genetic variability there truly is in the human genome. Moreover, genome-wide association studies (GWAS) have revealed important genotypephenotype correlations. Nevertheless, our understanding of the functionality of the genome is still lacking. Dispersed among its 3 billion bp, the human genome features approximately 20–25,000 functional genes that encode various proteins and their isoforms. In recent years, however, scientists realized that the functionality of the genome is not restricted to only protein-encoding genes, which are transcribed into messenger RNAs, but also to the transcription of non-coding RNAs [e.g., microRNAs (miRNAs)], which play important roles in the posttranscriptional control of gene expression and, consequently, influence the resulting phenotypes. Broadly speaking, it is at this point—from studies investigating where the functions of the
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