Fanconi Anemia: A Paradigmatic Disease for the Understanding of Cancer and Aging (Monographs in Human Genetics)

243 Pages·2007·2.14 MB·English

by  D. Schindler

Fanconi Anemia
Monographs in Human Genetics
Vol. 15
Series Editor
Michael Schmid, Würzburg
Fanconi Anemia
A Paradigmatic Disease for the
Understanding of Cancer and Aging
Volume Editors
Detlev Schindler, Würzburg
Holger Hoehn, Würzburg
59 figures, 34 in color, and 14 tables, 2007
Basel·Freiburg·Paris·London·New York·
Bangalore·Bangkok·Singapore·Tokyo·Sydney
Holger Hoehn, M.D. Detlev Schindler, M.D.
Professor of Human Genetics Professor of Human Genetics
Department of Human Genetics Department of Human Genetics
University of Würzburg University of Würzburg
Am Hubland Am Hubland
D–97074 Würzburg D–97074 Würzburg
Library of Congress Cataloging-in-Publication Data
Fanconi anemia : a paradigmatic disease for the understanding of cancer and
aging / volume editors, Detlev Schindler, Holger Hoehn.
p. ; cm. – (Monographs in human genetics, ISSN 0077-0876 ; v. 15)
Includes bibliographical references and indexes.
ISBN-13: 978-3-8055-8277-3 (hard cover : alk. paper)
1. Fanconi’s anemia–Genetic aspects. I. Schindler, Detlev. II. Hoehn,
Holger. III. Series.
[DNLM: 1. Fanconi Anemia–genetics. W1 M0567P v. 15 2007 / WH 175 F1995
2007]
RC641.7.F36F34 2007
616.1(cid:1)52042–dc22
2007011109
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© Copyright 2007 by S. Karger AG, P.O. Box, CH–4009 Basel (Switzerland)
www.karger.com
Printed in Switzerland on acid-free paper by Reinhardt Druck, Basel
ISSN 0077–0876
ISBN 978–3–8055–8277–3
Dedicated to George M. Martin
Contents
IX Editorial
Schmid, M. (Würzburg)
XI Preface
Schindler, D.; Hoehn, H. (Würzburg)
Introductory Remarks
1 Why, What and How Can We Learn
from a Rare Disease Like Fanconi Anemia?
Schroeder-Kurth, T. (Würzburg)
9 Fanconi Anemia: A Disease with Many Faces
Dietrich, R. (Unna); Velleuer, E. (Düsseldorf)
23 Milestones in Fanconi Anemia Research
Digweed, M. (Berlin); Hoehn, H. (Würzburg); Sperling, K. (Berlin)
39 Fanconi Anemia Genes: Structure, Mutations, and
Genotype-Phenotype Correlations
Kalb, R.; Neveling, K.; Herterich, S.; Schindler, D. (Würzburg)
59 Cancer in Fanconi Anemia and Fanconi Anemia Genes in Cancer
Neveling, K.; Kalb, R.; Schindler, D. (Würzburg)
79 Clonal Chromosomal Aberrations in Bone Marrow Cells of
Fanconi Anemia Patients: Results and Implications
Neitzel, H.; Kühl, J.-S.; Gerlach, A.; Ebell, W.; Tönnies, H. (Berlin)
VI
95 Interphase FISH-Assay for the Detection of MDS- and
AML-Associated Chromosomal Imbalances in Native
Bone Marrow and Peripheral Blood Cells
Tönnies, H.; Huber, S.; Volarikova, E.; Gerlach, A.; Neitzel, H. (Berlin)
110 Applications of Cell Cycle Testing in Fanconi Anemia
Schindler, D.; Friedl, R.; Gavvovidis, I.; Kalb, R.; Neveling, K. (Würzburg);
Linka, Y.; Hanenberg, H. (Düsseldorf); Kubbies, M. (Penzberg);
Hoehn, H. (Würzburg)
131 Prenatal Diagnosis of Fanconi Anemia: Functional and
Molecular Testing
Bechtold, A.; Kalb, R.; Neveling, K.; Friedl, R.; Gottwald, B.; Herterich, S.
(Würzburg); Schmugge Liner, M. (Zürich); Heilmann, C. (Copenhagen);
Hanenberg, H. (Düsseldorf); Schindler, D. (Würzburg)
149 Revertant Mosaicism in Fanconi Anemia: Natural
Gene Therapy at Work
Hoehn, H.; Kalb, R.; Neveling, K.; Friedl, R.; Bechtold, A.;
Herterich, S. (Würzburg); Sun, Y. (Nanjing, P.R. China); Gruhn, B. (Jena);
Hanenberg, H. (Düsseldorf); Schindler, D. (Würzburg)
173 Stem Cell Transplantation in Fanconi Anemia – Recent
Advances with Alternative Donors
Eyrich, M.; Winkler, B.; Schlegel, P.G. (Würzburg)
183 Fanconi Anemia Genes in Vertebrates: Evolutionary Conservation,
Sex-Linkage, and Embryonic Expression of FANCCand FANCG
in Avian Cells
Nanda, I.; Buwe, A. (Würzburg); Wizenman, A. (Neuherberg/Munich);
Takata, M. (Hiroshima); Haaf, T. (Mainz); Schartl, M.; Schmid, M. (Würzburg)
200 Studying Homologous Recombination in Fanconi Anemia
Demuth, I.; Digweed, M. (Berlin)
211 Functional Knock-Down of Human RAD51for Testing the
Fanconi Anemia-BRCA Connection
Rio, P. (Düesseldorf, Madrid); Hanenberg, H. (Düsseldorf, Indianapolis, Ind.)
226 Author Index
227 Subject Index
Contents VII

Editorial
Fourteen volumes of Monographs in Human Genetics were published
between 1966 and 1992. Since then a plethora of experimental data obtained by
the new molecular techniques has led to paradigmatic changes in understanding
the mechanisms operating in human heredity. Currently human genetics pre-
sents as a highly diversified field covering an ever increasing number of topics,
ranging from basic research to medical practice. This calls for a specialized
forum where the rapid advances in human genetics are reviewed by experts of
different fields. In response to these developments, the traditional book series
Monographs in Human Genetics will be revived with two volumes per year,
focusing on important hereditary diseases, their molecular basis, their clinical
impact and their eventual treatment. With its concise but highly informative
reviews, Monographs in Human Genetics provides essential reading not only
for researchers but also for physicians and students interested in specific
genetic diseases. All articles published in this book series are reviewed accord-
ing to classical standards.
The present volume is devoted to ‘Fanconi Anemia’, a chromosome insta-
bility disorder whose molecular basis has been all but elucidated in recent
years. By their very nature, monograph-types of publications are more compre-
hensive and synthetic rather than hot-off-the-press reports. A case in point is the
topic ‘Fanconi anemia’where the pace of gene discovery has accelerated during
recent years. While this volume was in preparation three new disease causing
genes have been discovered, the most recent of which (FANCI) was too recent
to be included. Even though monographs may not cover the very last develop-
ments in a given field, their undisputed value arises from their unhurried and in
IX