genetics EDITORIAL BOARD Editor in Chief Richard Robinson [email protected] Tucson, Arizona Associate Editors Ralph R. Meyer, University Distinguished Teaching Professor and Professor of Biological Sciences, University of Cincinnati David A. Micklos, Executive Director, DNA Learning Center, Cold Spring Harbor Laboratories Margaret A. Pericak-Vance, James B. Duke Professor of Medicine, Director, Center for Human Genetics, Duke University Medical Center Students from the following school participated as consultants: Medford Area Middle School, Medford, Wisconsin Jeanine Staab, Teacher EDITORIAL AND PRODUCTION STAFF Linda Hubbard, Editorial Director Kate Millson, Editor Ray Abruzzi, Mark Mikula, Nicole Watkins, Contributing Editors Matthew Nowinski, Angela Pilchak, Editorial Interns Marc Borbély, Nancy E. Gratton, Copyeditors Marc Borbély, Amy L. 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Volume ISBN Numbers Or you can visit our Internet site at 27500 Drake Rd. 0-02-865607-5 (Volume 1) http://www.gale.com Farmington Hills, MI 48331-3535 0-02-865608-3 (Volume 2) Permissions Hotline: ALL RIGHTS RESERVED 0-02-865609-1 (Volume 3) 248-699-8006 or 800-877-4253 ext. 8006 No part of this work covered by the 0-02-865610-5 (Volume 4) Fax: 248-699-8074 or 800-762-4058 copyright hereon may be reproduced or used in any form or by any means—graphic, While every effort has been made to ensure electronic, or mechanical, including the reliability of the information presented in LIBRARY OF CONGRESS CATALOGING- IN-PUBLICATION DATA Genetics / Richard Robinson, editor in chief. p. ; cm. Includes bibliographical references and index. ISBN 0-02-865606-7 (set : hd.) 1. Genetics—Encyclopedias. [DNLM: 1. Genetics—Encyclopedias—English. 2. Genetic Diseases, Inborn—Encyclopedias—English. 3. Genetic Techniques—Encyclopedias—English. 4. Molecular Biology—Encyclopedias—English. QH 427 G328 2003] I. Robinson, Richard, 1956– QH427 .G46 2003 576’.03—dc21 2002003560 Printed in Canada 10 9 8 7 6 5 4 3 2 1 For Your Reference The following section provides a group of diagrams and illustrations applic- able to many entries in this encyclopedia. The molecular structures of DNA and RNA are provided in detail in several different formats, to help the stu- dent understand the structures and visualize how these molecules combine and interact. The full set of human chromosomes are presented diagram- matically, each of which is shown with a representative few of the hundreds or thousands of genes it carries. NUCLEOTIDE STRUCTURE Sample naming conventions for each structure: Phosphate C5' Nitrogenous base Adenine 4' Sugar 1' 3' 2' Base Nucleoside Adenosine Nucleotide Adenosine monophosphate DNA VS. RNA P C5' O base P C5' O base 4' 1' 4' 1' H H H H H 3' 2' H H 3' 2' H HO H HO OH deoxyribose ribose O O HC C H H C H 3 C N C N C C C C H N O H N O H H Thymine Uracil v For Your Reference NUCLEOTIDE STRUCTURES CANONICAL B-DNA DOUBLE HELIX Ribbon model Ball-and-stick Space-filling model model vi For Your Reference DNA NUCLEOTIDES PAIR UP ACROSS THE DOUBLE HELIX; THE TWO STRANDS RUN ANTI-PARALLEL vii For Your Reference SELECTED LANDMARKS OF THE HUMAN GENOME Cataracts Tremor, familial essential Opioid receptor Prostate cancer Ovarian cancer Serotonin receptors Deafness, autosomal Deafness, autosomal recessive Micropenis Moyamoya disease dominant Holoprosencephaly Muscular dystrophy, limb-girdle, type IC Obesity, severe Lung cancer, small-cell Retinitis pigmentosa Colon cancer Lissencephaly Diabetes mellitus, non-insulin- BRCA1 associated dependent protein (breast cancer) Spinocerebellar ataxia Limb-girdle muscular Liver cancer oncogene Epilepsy dystrophy, autosomal Long QT syndrome dominant Cardiomyopathy, familial hypertrophic Myotonic dystrophy Emery-Dreifuss muscular Thyrotropin-releasing dystrophy Fish-odor syndrome hormone deficiency Dopamine receptor Metastasis suppressor Ataxia telangiectasia Cardiomyopathy, dilated Alzheimer's disease Programmed cell death Ovarian cancer 1 2 3 263 million bases 255 million bases 214 million bases Hyperlipoproteinemia Albinism, brown and rufous Alopecia Deafness, autosomal dominant universalis Colorectal cancer Cyclin-dependent kinase Myeloid leukemia inhibitor Hand-foot-uterus Cerebral cavernous Galactosemia syndrome malformations Polydactyly Retinitis pigmentosa Friedreich ataxia ACTH deficiency Choreoacanthocytosis Colon cancer Achromatopsia Pseudohermaphroditism, male, with gynecomastia Brachydactyly, type B1 Aldosteronism Muscular dystrophy, Fukuyama congenital Esophageal cancer Osteogenesis imperfecta Cystic fibrosis Dystonia, torsion, Colorblindness, blue cone Burkitt lymphoma autosomal dominant pigment Tuberous sclerosis Taste receptors Nail-patella syndrome 7 8 9 171 million bases 155 million bases 145 million bases viii For Your Reference Achondroplasia Cri-du-chat syndrome, Huntington disease mental retardation Leigh syndrome Taste receptor Hirschsprung disease Severe combined immunodeficiency Phenylketonuria Parkinson's disease, Dopamine receptor Dwarfism Coagulation factor XIII familial Anemia, megaloblastic Maple syrup urine Muscular dystrophy, disease, type Ib limb-girdle, type 2E Hemochromatosis Mast cell leukemia Diphtheria toxin receptor Tumor necrosis Germ cell tumors Colorectal cancer factor (cachectin) Retinitis pigmentosa Polycystic kidney disease, adult, type II Severe combined immunodeficiency Macular dystrophy Startle disease, autosomal Gluten-sensitive dominant and recessive enteropathy Hair color, red (celiac disease) Coagulation factor XI Diabetes mellitus, insulin-dependent Coagulation factor XII (Hageman factor) Pancreatitis, hereditary Estrogen receptor Parkinson disease, juvenile, type 2 4 5 6 203 million bases 194 million bases 183 million bases Lambert-Eaton syndrome Sickle cell anemia Cyclin-dependent Thalassemias, beta Severe combined kinase inhibitor immunodeficiency Deafness, autosomal disease, Athabascan Taste receptors recessive Moebius syndrome Osteoporosis Deafness, autosomal Colorectal cancer recessive Adrenoleukodystrophy Rickets, vitamin D-resistant Spastic paraplegia McArdle disease Split hand/foot Multiple myeloma malformation, type 3 Alcohol intolerance, Diabetes mellitus, acute insulin-dependent Glaucoma Phenylketonuria 10 11 12 144 million bases 144 million bases 143 million bases ix For Your Reference Chorea, hereditary Prader-Willi/Angelman syndrome Pancreatic agenesis benign E(pyaet ecronloarll,y b irmopwrninted) Albinism, oculocutaneous, type II and ocular X-ray sensitivity Oligodontia Hair color, brown Spinocerebellar ataxia Meniere disease Osteosarcoma Muscular dystrophy, Bladder cancer DNA mismatch repair limb-girdle, type 2A Glycogen storage disease Wilson disease gene MLH3 Dyslexia Diabetes mellitus, Alzheimer's disease insulin-dependent Machado-Joseph disease Marfan syndrome Tay-Sachs disease Hypercholesterolemia, familial, autosomal recessive 13 14 15 114 million bases 109 million bases 106 million bases Hirschsprung disease Insomnia, Eye color, green/blue fatal familial Alzheimer's disease, APP-related Low density lipoprotein Gigantism Amytrophic Down syndrome Alzheimer disease, receptor lateral sclerosis (critical region) late onset Severe combined Colon cancer immunodeficiency disease Breast cancer Maple syrup urine DNA ligase I deficiency Prion protein disease, type Ia Hair color, brown 19 20 21 67 million bases 72 million bases 50 million bases x