Color Atlas of Genetics

474 Pages·2017·191.11 MB·English

by  Eberhard Passarge

Eberhard Passarge
basic sciences
I
Thieme

At a Glance
Introduction
Fundamentals
Prologue
Molecular Basis of Genetics
Analysis of DNA
Variability of DNA
Processing of DNA
Eukaryotic Cells
Formal Genetics
Chromosomes
Regulation of Gene Function
Epigenetic Modifications
Genetic Signal Pathways
Genes in Embryonic Development
Geno mies
Genetics in Medicine
Genetic Classification of Diseases 236
Imbalanced Homeostasis 260
Metabolic Disorders 276
Immune System 296
Origins of cancer 312
Impaired Cell and Tissue Structure 334
Hemoglobin Disorders 350
Sex Determination and Differentiation 362
Sensory Perception 370
Chromosomal Aberrations 382
A Brief Guide to Genetic Diagnosis 388
Morbid Anatomy of the Human Genome
Chromosomal Locations-Alphabetical List
Appendix
Glossary
Index
Bernhard Horsthemke
("Benno")
in appreciation of thirty years
of successful work together
Color Atlas of Genetics
Eberhard Passarge, MD
Professor of Human Genetics
Emeritus Director
Institute of Human Genetics
University Hospital Essen
Essen, Ciennany
Fifth edition, revised and updated
With 186 color plates prepared
by jQrgen Wirth
~Thieme
'®
Stuttgart· New York
IV
Iibrury of Con,grrss Camloging-in-Publialtion Important note: Medicine is an t!'Vl!r-changing
Data is available from the publisher. science undergoing continual developmenL
Research and dlnical experience are continu
Previous and foreign editions of this book: ally expanding our knowledge, in particular
1st German edition 1994 our knowledge of proper treatment and drug
1st English edition 1995 therapy. Insofar as this book mentions any dos
1st French edition 1995 age or application, readers may rest assured
1st Japanese edition 1996 that the authors, editors, and publishers have
1st Chinese edition 1998 made every effort to ensure that such referen
1st Italian edition 1999 ces are in accordance with the state of knowl
1st Turkish edition 2000 edge • tM tflllll of production of the boot.
2nd English edition 2001 Nevertheless. this does not involve, imply, or
2nd French edition 2003 express any guarantee or responsibility on the
1st Portuguese edition 2004
part of the publishers in respect to any dosage
1st Spanish edition 2004
instructions and forms of applications stat.ed
2nd German edition 2004
in the book. Ewry user Ts request.cl to U11mlne
1st Polish edition 2004 carefully the manufacturers' leaflets accompa
1st Greek edition 2005 nying each drug and to check. if necessary in
1st Arabic edition 2006 consultation with a physician or specialist,
3rd English edition 2007 whether the dosage schedules mentioned
4th English edition 2013 therein or the contraindications stated by the
3rd German edition 2008 manufilctum'S differ from the statements
3rd French edition 2008 made in the present book. Such examination is
2nd Turkish edition 2009 pmicu!arly important with drugs that are ei
2nd Japanese edition 2009 ther rarely used or have been newly released
2nd Spanish edition 2010 on the markeL Every dosage schedule or every
2nd Portuguese edition 2010 form of application used is entirely at the user's
3rd Turkish edition 2017 own risk and responsibility. The authors and
publishers request every user to report to the
Note: The English and the German editions
are written by the author and are not publishers arry discrepancies or inaccuracies no
ticed. If errors in this work are found after pub
translations.
lication, errata will be post.ed at www.thieme.
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Thieme Medical Publishers, Inc., 333 Seventh names even though specific reference to this
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Color plates prepared by J!lrgen Wirth, the public domain.
Professor of Visual Communication,
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protected by copyrighL Aey use, exploitation,
Cover design: Thieme Publishing Group or commercialization outside the narrow limits
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v
Preface
As its preceding editions of 1995, 2001, 2007, The Appendix provides tables with supple
illld 2013, this small book provides ilil over mentary genetic data. The extensive Glossary
view of the field of genetics, induding selected defines genetic terms. For young readers
aspects of genomics. It is based on a visual naturally interested in the future, whenever
approach using 186 color plates designed by possible and appropriate, I have induded a his
the author and graphically prepared for print torical perspective by referring to the first
by Jilrgen Wirth, a professor of Visual commu description of a discovery.
nication. Each plate corresponds to a small This fifth edition has been extensively rewri~n,
chapter illustrating a concept illld relati:d reorgilili.zed, and updati:d Nineteen plati:s are
facts. An explilililtory text accompanies each entirely new or have new parts. New topics,
plate on its opposite page. represented by new plates, indude overviews
The subjects of the plates have been chosen of human evolution, aging, the CRISPR-Cas prin
based on their importilllce as fundamentals ciple, genetic signaling pathw.iys, genomic dis
illld their role in the understanding the genetic orders and genome-wide association studies,
bases of inherited diseases. Owing to the lim cancer genomes, laminopathies, chromatin dis
ited space, individual diseases are not de orders, cohesinoptathies, and other emerging
scribed in detai~ but references are provided topics. About the same number of plates have
for further information. In addition, the corre also been deleti:d because they are no longer
sponding Online Mendelian Inheritance of needed. The fifth edition is slightly smaller
Man (OMIM) number is provided for each dis than the fourth edition of 2013.
ease mentioned. The OMIM is a catalog of This book is written for two kinds of readers:
human genes and phenotypes introduced by for students of biology or medicine, as an in
Victor A. McKusick in 1966. It is freely available troductory overview, and for their mentors, as
online as Online Mendelian Inheritance of a visual teaching aid. It will also help other
Man (OMIM: www.ncbi.nlm.nih.gov/omim). interested individuals obtain selected informa
It provides all genetically relevant information tion about current developments and achieve
about the known genetic diseases (see p. 392). ments in this rapidly evolving field. The reader
This book maintains the general structure should keep in mind that each plate and its
of the previous editions: Part I addresses Fun text represent an abstract rather than a trea
damentals; Part II, Genomics; and Part Ill, tise, with many related details necessarily
Genetics in Medicine. Part III illustrates the omitted. Therefore, this book is meant to be a
role of genetic and genomic principles under supplement to dassic textbooks rather than a
lying the causes of human diseases. From a substitute.
genetic point of view a disease can be dassified The term Atlas fur a book was introduced in
on the basis of its genetic causes (genotype) 1594 by Gerard de Kremer (1512-1594), a
rather than its manifestations (phenotype), as Flemish mathematician and cartographer also
is otherwise customary in medicine. known as Mercator. His book, with a collection
The book presents ancillary information in of 107 double pagl! geographic maps with the
the Introduction. Genetics and genomics as title Atlas sive Cosmographicae Meditationes de
viewed today are defined and some key devel Fribrica Mundi et Fabrica Figuru, was published
opments of the past are traced. The Chronol in 1595, a year after his death. With Africa,
ogy specifically lists important discoveries Asia, the "New World", and the northern
in the history of genetics and genomics. The polar region represented by only one map
historical perspectives are a reminder that each, it was the first world atlas. Mercator ex
the platform of knowledge today rests on pre plains in his introduction that he derived the
vious advances. rerm from the mythic king. Atlas ofMauretania
VI Preface
because of his outstanding knowledge of as makes sense except in the light of genetics."
tronomy. Earlier it was assumed th.at the term As a single-author book, this book represents
atli!s referred to the titan, Atli!s, of Greek myth a personal view th.at hi!s developed over a
ology. When MerCiltor's atli!S appeared, many period of more than fifty years of active par
geographic regions were not yet known and ticipation in the field.
hild remained unmapped in his collection. Es I am deeply indebted to Professor JOrgen
tablishing genetic maps is an activity not un Wirth, Professor of Visual COmmuniCiltion at
like mapping new, unknown territories 500 the Universities of Applied Sciences, Darmstadt
years ago. Genetic maps are a leitmotif in ge and schwabisch GmDnd, Germany (during the
netics and a rerurrent theme in this book. period 1978 to 2005) fur his most skillful work,
Throughout the book I have emphasized the which is a fundamental part of this book.
role of the evolution of genes, genomes, and I thi!nk my wife, Mary Fetter Passarge, M.D.,
organisms in understanding genetics. As fur her helpful suggestions. At Thieme Publish
noted by the great geneticist Theodosius Dobz ers, Stuttgart, I was guided and supported
hilnsky, "Nothing in biology makes sense ex by Stephan Konnry, Andrei!S Schabert, Nidhi
cept in the light of evolution.• Indeed, genetics Chopra, Apoorva Goel, and others.
and the science of evolution are dosely related.
Today one could say, "Nothing in evolution
VII
Acknowledgments
In preparing this fifth edition, I was supported Durham, North Carolina, United States); James
by several colleagues who provided photo R. Lupski (Houston, United States); Maximilian
graphs and/or advice with information and Muenke (Medical Genetics Branch, National
text review. I am highly indebted to Gabriele Human Genome Research Institute, National
Gillessen-Kaesbach and Frank Kaiser, LObeck; Institutes of Health, Bethesda, Maryland,
Bernhard Horsthemke, Essen; Wolfram Kress, United States); Arne Pfeuffer (Helmholtz-Zen
WOrzburg; Stefan Mundlos, Berlin; Gesa trum. Munich, Germany); and Friedrich Stock
Schwanitz, Bonn; Anne-Cluistin Teichmann, (Leipzig, Germany). A token of appreciation
Sieglinde Siegert. and Andreas Scheduikat, goes to the following colleagues fur providing
Leipzig; and DagmarWieczorek, Diisseldorf. photographs or drafts for illustrations received
For the previous editions, I would sincerely like previously fur earlier editions, which are also
to thank Mohammad Reza Ahmadian (Institute used in the fourth edition: Alireza Baradaran
of Biochemistry and Molecular Biology ll, (Mashhad, Iran, now Vancouver, Canada); Dirk
University Hospital Diisseldorf, Germany); Bootsma (Rotterdam, Netherlands); Laura Car
Beate Albrecht, Tea Berulava, and Bernhard rel (Hershey, Pennsylvania, United States); Ara
Horsthemke (Institute for Human Genetics, vinda Chakravarti and Richard I. Kelley (Balti
Essen, Germany); Thomas Langmann (Pro Ret more, United States); Thomas Cremer (Munich,
ina Professorship, Institute of Human Genetics, Germany}; Robin Edison (National Institutes of
University of Regensburg, Germany); Maximi Health, Bethesda, Maryland, United States);
lian Muenke (Medical Genetics Branch, Nation Evan E. Eichler (Seattle, United States); Wolf
al Human Genome Research Institute, National gang Engel (GOttingen, Germany); Reiner jo
Institutes of Health, Bethesda, Maryland, hannisson (Liibeck, Germany); Nikolaus Kon
United States); Heike Olbrich and Heymut jetzko, Alma Kiichler, Dietmar Lohmann, Axel
Omran (Department of Pediatrics, University Schneider, and Dagmar Wieczorek (Essen, Ger
of Miinster, Germany); and Martin Zenker many); Nicole McNeil and Thomas Ried (Na
(Institute of Human Genetics, University of tional Institutes of Health, Bethesda, Maryland,
Magdeburg, Germany). Their contributions are United States); Clemens Milller-Reible {Wtirz
also acknowledged in the text accompanying burg, Germany); Stefan Mundlos (Berlin, Ger
the relevant plates. many); Helga Rehder (Marburg, Germany/
Last but not least, the following colleagues de Vienna, Austria); David L Rimoin {Los Angeles,
serve a mention for their generous contribution United States); Evelin Schrilck (Dresden, Ger
of valuable advice and additional information: many); Peter Steinbach (Ulm, Germany); Hans
Karin Buiting, Stephanie Gkalympoudis, Deniz Hilger Ropers (Berlin, Germany); Sabine Uhrig
K.anber, Dietinar Lohmann, Hermann-Josef and Michael Speicher (Graz. Austria); Michael
Liidecke, and Nicholas Wagner (Essen, Ger Weis (Oeveland, Ohio, United States); and
many); Nicholas Katsanis (Duke University, Eberhard Zrenner (Tiibingen, Germany).
VIII
About the Author
Center. Ohio. United~ (1~1966) with
JosefWarlwiy and in human genetiG from the
Cornell Medical CeDU:r. New York. Ullitr:d States
(1966-1968) with James Cennan. After com
pleting his training, he established a new divi
sion ofC ytogenetiG and Clinical. CeDetiG at the
Department of Hwnan Genetics, UnlYerslty of
~ Gennaey In 1968 and. directed It
until 1976, when he became the Professor of
Human Genetics and the Founding Chairman
of the lnstitllll! of Human Genetics. UnMersity
of E~n. Germany. when! he snved. until his
redrement In 2001. He has remained acti..e In
the field ofh uman genetia. From 2010 to 2014,
be was the Interim Chairman at the lnstilllll! of
Human Genetics at the University of Leipzig.
Germany. Among his main 5Cimtific intER'Sts
arc the investigation of hereditary and congeII.·
ital diseases and their application in genetic
diagnosis and counseling:. He is the authm or
mautilm: of more thm 250 scientific: articles in
intl!mational. peer-reviewed joumals; the au
thor of d!aptws in several intl!l.':llatiollill. text
books; and the aulitor of three books on
human and medical genetics. His experience In
teaching hum.an genetics Is reflected In the
COior Adas of GentUa. He has seived on the
H'berltan1 P~ MD, ls a German humm. ge edlmrial board ol several in1ematiollill. human
neticist at the University Institute of Human ~ joumals.. He has been the Secret!ry
Genetics at Esen. Germany. He graduated. GeneRI of the European Society of Human
from the UllM!rsity of ~ Camany in Cenl!tia {1989-1991} and the President of the
1960 with an MD degree and mzived gener.il Gmnm Society of Human Gmdil:s (199~
medical training at the General Hospitll 1996). ofw hich he beame an honorary IIll!ltlbs
Hamburg-Harburg, Gemwly (1961-1962) and in Marth 2011. He is a IIll!ltlbs ofthe AmtriJ:an
at the Worcester Memorial Hospital. WogstEr, Society of Human Cenetics. a a1m:sponding
Mamchusetts. United States (1962-1963) with member ol the American College of Medical
a stipend from the Ventnor FoWldation. His Cenetics, a ftnmdina member of the European
pmqraduate education wa.s iD pediatrics from Sodety of Human Cenet!a and the Ter.ttology
the Cincinnati Children's Hmpita) Medical Society, and sewral. CJther scientific socilties.