Table Of Content

Page i Genetics: Principles and Analysis Fourth Edition Daniel L. Hartl Harvard University Elizabeth W. Jones Carnegie Mellon University Page ii TO THE BEST TEACHERS WE EVER HAD—OUR PARENTS AND OUR STUDENTS ABOUT THE AUTHORS Daniel L. Hartlis a Professor of Biology at Harvard University. He received his B.S. degree and Ph.D. from the University of Wisconsin. His research interests include molecular genetics, molecular evolution, and population genetics. Elizabeth W. Jones is a Professor of Biological Sciences at Carnegie Mellon University. She received her B.S. degree and Ph.D. from the University of Washington in Seattle. Her research interests include gene regulation and the genetic control of cellular form. Currently she is studying the function and assembly of organelles in the yeast Saccharomyces. ABOUT THE COVER A human chromosome. ABOUT THE PUBLISHER World Headquarters Jones and Bartlett Publishers 40 Tall Pine Drive Sudbury, MA 01776 978-443-5000 [email protected] http://www.jbpub.com Jones and Bartlett Publishers Canada P.O. Box 19020 Toronto, ON M5S 1X1 CANADA Jones and Bartlett Publishers International Barb House, Barb Mews London W6 7PA UK ABOUT THE BOOK Chief Executive Officer:Clayton Jones Chief Operating Officer:Don Jones, Jr. Publisher: Tom Walker V.P., Sales and Marketing:Rob McCarry Senior Managing Editor:Judith H. Hauck Marketing Director:Rich Pirozzi Production Manager: Anne Spencer Manufacturing Director:Jane Bromback Executive Editor:Brian L. McKean Project Editor:Kathryn Twombly Senior Production Editor: Mary Hill Web Site Design:Andrea Wasik * * * Development Editor:Richard Morel Book and Cover Design:J/B Woolsey Associates Art Development and Rendering:J/B Woolsey Associates Composition and Book Layout: Thompson Steele, Inc. Prepress:Westwords, Inc. Cover Manufacture:Coral Graphic Services, Inc. Book Manufacture:World Color Book Services Library of Congress Cataloging-in-Publication Data Hartl, Daniel L. Genetics: Principles and analysis / Daniel L. Hartl, Elizabeth W. Jones.—4th ed. p. cm. Includes bibliographical references (p.). ISBN 0-7637-0489-X 1. Genetics. I. Jones, Elizabeth W. II. Title. QH430.H3733 1998 576.5—dc21 97-40566 CIP COPYRIGHT ª 1998 BY JONES AND BARTLETT PUBLISHERS, INC. All rights reserved. No part of the material protected by this copyright notice may be reproduced or utilized in any form, electronic or mechanical, including photocopying, recording, or by any information storage and retrieval system, without written permission from the copyright owner. Printed in the United States 03 02 01 00 99 98 9 8 7 6 5 4 3 2 Page iii Brief Contents Chapter 1 1 The Molecular Basis of Heredity and Variation Chapter 2 30 Principles of Genetic Transmission Chapter 3 80 Genes and Chromosomes Chapter 4 122 Genetic Linkage and Chromosome Mapping Chapter 5 172 The Molecular Structure and Replication of the Genetic Material Chapter 6 220 The Molecular Organization of Chromosomes Chapter 7 258 Variation in Chromosome Number and Structure Chapter 8 306 The Genetics of Bacteria and Viruses Chapter 9 358 Genetic Engineering and Genome Analysis Chapter 10 410 Gene Expression Chapter 11 458 Regulation of Gene Activity Chapter 12 510 The Genetic Control of Development Chapter 13 554 Mutation, DNA Repair, and Recombination Chapter 14 598 Extranuclear Inheritance Chapter 15 626 Population Genetics and Evolution Chapter 16 668 Quantitative Genetics and Multifactorial Inheritance Chapter 17 702 Genetics of Biorhythms and Behavior Page iv Contents Preface xv Introduction: For the Student xxi Chapter 1 1 The Molecular Basis of Heredity and Variation 1-1 DNA: The Genetic Material 2 Experimental Proof of the Genetic Function of DNA 3 Genetic Role of DNA in Bacteriophage 6 1-2 DNA Structure: The Double Helix 9 1-3 An Overview of DNA Replication 10 1-4 Genes and Proteins 12 Transcription of DNA Makes RNA 12 Translation of RNA Makes Protein 14 1-5 Mutation 15 1-6 How Genes Determine Traits 16 Pleiotropy: One Gene Can Affect More Than One Trait 17 Epistasis: One Trait Can Be Affected by More Than One Gene 19 Effects of the Environment 20 1-7 Evolution 22 The Molecular Continuity of Life 22 Adaptation and Diversity 23 The Role of Chance in Evolution 24 Chapter End Material Chapter Summary 24 Key Terms 25 Review the Basics 26 Guide to Problem Solving 26 Analysis and Applications 28 Further Reading 29 Special Features Connection: It's the DNA! 4 Oswald T. Avery, Colin M. MacLeod, and Maclyn McCarty 1944 Studies on the chemical nature of the substance inducing transformation of pneumococcal types Connection: Shear Madness 8 Alfred D. Hershey and Martha Chase 1952 Independent functions of viral protein and nucleic acid in growth of bacteriophage GeNETics on the Web 27 Chapter 2 30 Principles of Genetic Transmission 2-1 The Monohybrid Crosses 32 Traits Present in the Progeny of the Hybrids 35 Mendel's Genetic Hypothesis and Its Experimental Tests 36 The Principle of Segregation 40 Important Genetic Terminology 40 Verification of Mendelian Segregation by the Testcross 41 2-2 Segregation of Two or More Genes 42 The Principle of Independent Assortment 42 Dihybrid Testcrosses 45 The Big Experiment 45 2-3 Mendelian Inheritance and Probability 48 Mutually Exclusive Events: The Addition Rule 48 Independent Events: The Multiplication Rule 49 2-4 Segregation in Human Pedigrees 51 2-5 Genetic Analysis 54 The Complementation Test in Gene Identification 54 Why Does the Complementation Test Work? 58 Multiple Alleles 60 2-6 Modified Dihybrid Ratios Caused by Epistasis 61 2-7 Complications in the Concept of Dominance 64 Amorphs, Hypomorphs, and Other Types of Mutations 66 Incomplete Dominance 67 Codominance and the Human ABO Blood Groups 68 Incomplete Penetrance and Variable Expressivity 70 Chapter End Material Chapter Summary 72 Key Terms 73 Review the Basics 73 Guide to Problem Solving 73 Analysis and Applications 76 Challenge Problems 78 Further Reading 79 Special Features Connection: What Did Gregor Mendel Think He Discovered 38 Gregor Mendel 1866 Experiments on plant hybrids Connection: This Land Is Your Land, This Land Is My Land 53 The Huntington's Disease Collaborative Research Group 1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome GeNETics on the Web 74