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II 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 Borbely, Nancy E. Gratton, Copyeditors Marc Borbely, Amy L. 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Potter, Director, New Product Development VOLUME 3K-P Richard Robinson MACMILLAN REFERENCE USA T M THC>IVISC>N G AL* E New York • Detroit • San Diego • San Fran cisco • Cleve land • New Haven, Con n. • Wat ervi lle, Maine • London • Munich THC>MSC>N ltc TM GALE Genetics Richard Robinson © 2003 by Macmillan Reference USA. photocopying, recording, taping, Web this publication, The Gale Group, Inc. does Macmillan Reference USA is an imprint of distribution, or information storage retrieval not guarantee the accuracy of the data The Gale Group, Inc., a division of systems-without the written permission of contained herein. The Gale Group, Inc. 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Ml 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 I 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 sm dent understand the structures and visualize ho'v 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) cs· Nitrogenous base Adenine Base Nucleoside Adenosine Nucleotide Adenosine mono phosphate DNA VS. RNA ®-cs· 0 base 0 base HO deoxyribose ribose For Your Reference NUCLEOTIDE STRUCTURES Purine-containing DNA nucleotldes PyrimidlntH:ontalning DNA nucleotides Adenine Thymine o- o- 1 1 -o-P-0-CH O -o-P-0-CH O II 2 II 2 0 0 OH H OH H Guanine Cytosine o- 1 -o-P-0-CH 0 II 2 0 OH H OH H CANONICAL 8-DNA DOUBLE HELIX --T - G C Ribbon model Ball-and-stick Space-filling model model For Your Reference DNA NUCLEOTIDES PAIR UP ACROSS THE DOUBLE HELIX; THE TWO STRANDS RUN ANTI-PARALLEL - 5' end Thymine (T) Adenine (A) 0 o- ~ / -o/P"-o 3' end / H / "5'CH 2 0 Cytosine (C) H Guanine (G) HyYN-H---0H \ N=rH 5' 3' N l H-N \ N H y >=N ..... 0 ---------H-N \ H 0 Adenine (A) H Thymine (T) )=N \ CH3 NIYN-H---O~HH NYN ----H NYN --· H 0 0 3' Guanine (G) 5' H Cytosine (C) )=N I H Nl'IO-H---N~H H NyN--H------NYN --· N H--------- 0 / / / H 0 3' end 5 ' H2C "-o o- "-. / /p~ -o 0 .__~~---~~~II l~I~~-----5-'_en_d~ I Sugar-phosphate backbone Nitrogenous bases of the two DNA Sugar-phosphate backbone of of one DNA strand strands connected by hydrogen bonds complementary DNA strand For Your Reference SELECTED LANDMARKS OF THE HUMAN GENOME Cataracts Tremor, familial essential Opioid receptor Prostate cancer Ovarian cancer Serotonin receptors Deafness. autosomal recessive Deafness, autosomal Micropenis Moyamoya disease dominant Holoprosencephaly · .. Muscu lar dystrophy, 1 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 I 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 inhibit or Hand-foot-uterus ' Cerebral cavernous Galactosemia syndrome malformations Polydactyly Retinitis pigmentosa Friedreich ataxia ACTH deficiency Choreoacanthocytosis Achromatopsia Pseudoherm aphroditism, male, with gynecomastia Brachydactyly, type 81 Aldosteronism Muscular dystrophy, Fukuyama congenital Esophageal cancer Osteogenesis imperfecta Cystic fibrosis Dystonia, torsion, I Colorblindness, blue cone Burkitt lymphoma autosomal dominant pigment Tu berous sclerosis Taste receptors Nail-patella syndrome 7 8 9 171 million bases 155 million bases 145 million bases For Your Reference Achondroplasia Cri-du-chat syndrome, Huntington disease mental retardation Leigh syndrome Taste receptor Hirschsprung disease Severe combined immunodeficiency Phenylketonuria Dwarfism Parkinson's disease. I Dopamine receptor Coagulation factor XI II familial Anemia, megaloblastic Maple syrup urine Muscular dystrophy, disease, type lb 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) 1 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 Cycl in-dependent Thalassemias, beta Severe combined kinase inhibitor immunodeficiency . disease, Athabascan Deafness. autosomal Taste receptors recessive Moebius syndrome Osteoporosis Deafness, autosomal Colorectal cancer recessive Adrenoleu kodystrophy Rickets, vitamin D-resistant Spastic paraplegia McArdle disease Split hand/foot Multiple myeloma malformation, type 3 Alcohol intolerance. Diabetes mellitus, insulin-dependent acute . Glaucoma Phenylketonuria ~ 10 11 12 144 million bases 144 million bases 143 million bases For Your Reference Prader-Willi/Angel man syndrome 0 Chorea, hereditary O benign _ (paternally imprinted) n- Pancreatic agenesis Eye color, brown 0-=- - Albinism, oculocutaneous, type II and ocular X-ray sensitivity Oligodontia I Hair color, brown Spinocerebellar ataxia Meniere disease Osteosarcoma Muscular dystrophy, Bladder cancer 1 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