Hartl, Jones - Genetics. Principlers and analysis - 1998

Page iGenetics:Principles and AnalysisFourth EditionDaniel L. HartlHarvard UniversityElizabeth W. JonesCarnegie Mellon UniversityPage iiTO THE BEST TEACHERS WE EVER HAD—OUR PARENTS AND OUR STUDENTSABOUT THE AUTHORSDaniel L. Hartl is a Professor of Biology at Harvard University. He received his B.S. degree andPh.D. from the University of Wisconsin. His research interests include molecular genetics,molecular evolution, and population genetics. Elizabeth W. Jones is a Professor of BiologicalSciences at Carnegie Mellon University.

She received her B.S. degree and Ph.D. from theUniversity of Washington in Seattle. Her research interests include gene regulation and the geneticcontrol of cellular form. Currently she is studying the function and assembly of organelles in theyeast Saccharomyces.ABOUT THE COVERA human chromosome.ABOUT THE PUBLISHERWorld HeadquartersJones and Bartlett Publishers40 Tall Pine DriveSudbury, MA 01776978-443-5000info@jbpub.comhttp://www.jbpub.comJones and Bartlett Publishers CanadaP.O. Box 19020Toronto, ON M5S 1X1CANADAJones and Bartlett Publishers InternationalBarb House, Barb MewsLondon W6 7PAUKABOUT THE BOOKChief Executive Officer: Clayton JonesChief Operating Officer: Don Jones, Jr.Publisher: Tom WalkerV.P., Sales and Marketing: Rob McCarrySenior Managing Editor: Judith H.

HauckMarketing Director: Rich PirozziProduction Manager: Anne SpencerManufacturing Director: Jane BrombackExecutive Editor: Brian L. McKeanProject Editor: Kathryn TwomblySenior Production Editor: Mary HillWeb Site Design: Andrea Wasik***Development Editor: Richard MorelBook and Cover Design: J/B Woolsey AssociatesArt Development and Rendering: J/B Woolsey AssociatesComposition and Book Layout: Thompson Steele, Inc.Prepress: Westwords, Inc.Cover Manufacture: Coral Graphic Services, Inc.Book Manufacture: World Color Book ServicesLibrary of Congress Cataloging-in-Publication DataHartl, Daniel L.Genetics: Principles and analysis / Daniel L. Hartl, Elizabeth W. Jones.—4th ed.p. cm.Includes bibliographical references (p.).ISBN 0-7637-0489-X1.

Genetics. I. Jones, Elizabeth W. II. Title.QH430.H3733 1998576.5—dc2197-40566CIPCOPYRIGHT 1998 BY JONES AND BARTLETT PUBLISHERS, INC.All rights reserved. No part of the material protected by this copyright notice may be reproduced orutilized in any form, electronic or mechanical, including photocopying, recording, or by anyinformation storage and retrieval system, without written permission from the copyright owner.Printed in the United States03 02 01 00 99 9898765432Page iiiBrief ContentsChapter 1The Molecular Basis of Heredity and Variation1Chapter 2Principles of Genetic Transmission30Chapter 3Genes and Chromosomes80Chapter 4Genetic Linkage and Chromosome Mapping122Chapter 5The Molecular Structure and Replication of the Genetic Material172Chapter 6The Molecular Organization of Chromosomes220Chapter 7Variation in Chromosome Number and Structure258Chapter 8The Genetics of Bacteria and Viruses306Chapter 9Genetic Engineering and Genome Analysis358Chapter 10Gene Expression410Chapter 11Regulation of Gene Activity458Chapter 12The Genetic Control of Development510Chapter 13Mutation, DNA Repair, and Recombination554Chapter 14Extranuclear Inheritance598Chapter 15Population Genetics and Evolution626Chapter 16Quantitative Genetics and Multifactorial Inheritance668Chapter 17Genetics of Biorhythms and Behavior702Page ivContentsPrefacexvIntroduction: For the StudentxxiChapter 1The Molecular Basis of Heredity and Variation1-1 DNA: The Genetic Material12Experimental Proof of the Genetic Function of DNA3Genetic Role of DNA in Bacteriophage61-2 DNA Structure: The Double Helix91-3 An Overview of DNA Replication101-4 Genes and Proteins12Transcription of DNA Makes RNA12Translation of RNA Makes Protein141-5 Mutation151-6 How Genes Determine Traits16Pleiotropy: One Gene Can Affect More Than One Trait17Epistasis: One Trait Can Be Affected by More Than One Gene19Effects of the Environment201-7 Evolution22The Molecular Continuity of Life22Adaptation and Diversity23The Role of Chance in Evolution24Chapter End MaterialChapter Summary24Key Terms25Review the Basics26Guide to Problem Solving26Analysis and Applications28Further Reading29Special FeaturesConnection: It's the DNA!Oswald T.

Avery, Colin M. MacLeod,and Maclyn McCarty 1944Studies on the chemical nature of the substance inducingtransformation of pneumococcal types4Connection: Shear MadnessAlfred D. Hershey and Martha Chase 1952Independent functions of viral protein and nucleic acid ingrowth of bacteriophage8GeNETics on the WebChapter 2Principles of Genetic Transmission2-1 The Monohybrid Crosses273032Traits Present in the Progeny of the Hybrids35Mendel's Genetic Hypothesis and Its Experimental Tests36The Principle of Segregation40Important Genetic Terminology40Verification of Mendelian Segregation by the Testcross412-2 Segregation of Two or More Genes42The Principle of Independent Assortment42Dihybrid Testcrosses45The Big Experiment452-3 Mendelian Inheritance and Probability48Mutually Exclusive Events: The Addition Rule48Independent Events: The Multiplication Rule492-4 Segregation in Human Pedigrees512-5 Genetic Analysis54The Complementation Test in Gene Identification54Why Does the Complementation Test Work?58Multiple Alleles602-6 Modified Dihybrid Ratios Caused by Epistasis612-7 Complications in the Concept of Dominance64Amorphs, Hypomorphs, and Other Types of Mutations66Incomplete Dominance67Codominance and the Human ABO Blood Groups68Incomplete Penetrance and Variable Expressivity70Chapter End MaterialChapter Summary72Key Terms73Review the Basics73Guide to Problem Solving73Analysis and Applications76Challenge Problems78Further Reading79Special FeaturesConnection: What Did Gregor Mendel Think He DiscoveredGregor Mendel 1866Experiments on plant hybrids38Connection: This Land Is Your Land, This Land Is My LandThe Huntington's Disease Collaborative Research Group 1993A novel gene containing a trinucleotide repeat that is expandedand unstable on Huntington's disease chromosome53GeNETics on the Web74Page vChapter 3Genes and Chromosomes803-1 The Stability of Chromosome Complements823-2 Mitosis833-3 Meiosis87The First Meiotic Division: Reduction89The Second Meiotic Division: Equation943-4 Chromosomes and Heredity96Chromosomal Determination of Sex97X-linked Inheritance97Nondisjunction As Proof of the Chromosome Theory of Heredity103Sex Determination in Drosophila1043-5 Probability in Prediction and Analysis of Genetic Data106Using the Binomial Distribution in Genetics106Evaluating the Fit of Observed Results to Theoretical Expectations109The Chi-Square Method1093-6 Are Mendel's Data Too Good to Be True?114Chapter End MaterialChapter Summary115Key Terms116Review the Basics117Guide to Problem Solving117Analysis and Applications119Challenge Problems121Further Reading121Special FeaturesConnection: Grasshopper, GrasshopperE.

Eleanor Carothers 1913The Mendelian ratio in relation to certain Orthopteranchromosomes96Connection: The White-Eyed MaleThomas Hunt Morgan 1910Sex limited inheritance in Drosophila101Connection: The Case Against Mendel's GardenerRonald Aylmer Fisher 1936Has Mendel's work been rediscovered?112GeNETics on the Web118Chapter 4Genetic Linkage and Chromosome Mapping1224-1 Linkage and Recombination of Genes in a Chromosome1244-2 Genetic Mapping127Crossing-over132Crossing-over Takes Place at the Four-Strand Stage of Meiosis134The Molecular Basis of Crossing-over137Multiple Crossing-over1384-3 Gene Mapping from Three-Point Testcrosses141Chromosome Interference in Double Crossing-over143Genetic Mapping Functions144Genetic Distance and Physical Distance1454-4 Genetic Mapping in Human Pedigrees1464-5 Mapping by Tetrad Analysis150The Analysis of Unordered Tetrads151The Analysis of Ordered Tetrads1544-6 Mitotic Recombination1584-7 Recombination Within Genes1604-8 A Closer Look at Complementation161Chapter End MaterialChapter Summary162Key Terms163Review the Basics164Guide to Problem Solving164Analysis and Applications167Challenge Problems170Further Reading171Special FeaturesConnection: Genes All in a RowAlfred H.

Sturtevant 1913The linear arrangement of six sex-linked factors in Drosophila,as shown by their mode of association131Connection: Dos XXLilian V. Morgan 1922Non-crisscross inheritance in Drosophila Melanogaster137GeNETics on the Web164Page viChapter 5The Molecular Structure and Replication of the Genetic Material1725-1 The Chemical Composition of DNA1745-2 The Physical Structure of the Double Helix1775-3 What a Genetic Material Needs That DNA Supplies1815-4 The Replication of DNA182The Basic Rule for the Replication of Nucleic Acids182The Geometry of DNA Replication1835-5 DNA Synthesis1915-6 Discontinuous Replication194Fragments in the Replication Fork194Initiation by an RNA Primer195The Joining of Precursor Fragments196Other Proteins Needed for DNA Replication1965-7 The Isolation and Characterization of Particular DNA Fragments199Denaturation and Renaturation199Nucleic Acid Hybridization200Restriction Enzymes and Site-Specific DNA Cleavage202Gel Electrophoresis205The Southern Blot2065-8 The Polymerase Chain Reaction2075-9 Determination of the Sequence of Bases in DNA210The Sequencing Procedure212Clinical Use of Dideoxynucleoside Analogs213Chapter End MaterialChapter Summary214Key Terms214Review the Basics215Guide to Problems Solving215Analysis and Applications216Challenge Problems218Further Reading219Special FeaturesConnection: The Double HelixJames D.

Watson and Francis H. C. Crick 1953A structure for deoxyribose nucleic acid180Connection: Replication by HalvesMatthew Meselson and Franklin W. Stahl 1958The replication of DNA in Escherichia coli184GeNETics on the Web217Chapter 6The Molecular Organization of Chromosomes2206-1 Genome Size and Evolutionary Complexity2226-2 The Supercoiling of DNA224Topoisomerase Enzymes2256-3 The Structure of the Bacterial Chromosome2256-4 The Structure of Eukaryotic Chromosomes228The Nucleosome Is the Basic Structural Unit of Chromatin228Nucleosome Core Particles229The Arrangement of Chromatin Fibers in a Chromosome2306-5 Polytene Chromosomes2346-6 Repetitive Nucleotide Sequences in Eukaryotic Genomes235Kinetics of DNA Renaturation236Analysis of Genome Size and Repetitive Sequences byRenaturation2386-7 Nucleotide Sequence Composition of Eukaryotic Genomes239Unique Sequences240Highly Repetitive Sequences240Middle-Repetitive Sequences2416-8 Transposable Elements2426-9 Centromere and Telomere Structure246Molecular Structure of the Centromere246Molecular Structure of the Telomere247Chapter End MaterialChapter Summary253Key Terms253Review the Basics254Guide to Problem Solving254Analysis and Applications255Challenge Problem256Further Reading257Special FeaturesConnection: Her Feeling for the OrganismBarbara McClintock 1950The origin and behavior of mutable loci in maize245Connection: Telomeres: The Beginning of the EndCarol W.

Greider and Elizabeth H. Blackburn 1987The telomere terminal transferase of Tetrahymena is aribonucleoprotein enzyme with two kinds of primer specificity249GeNETics on the Web256Page viiChapter 7Variation in Chromosome Number and Structure2587-1 Centromeres and the Genetic Stability of Chromosomes2607-2 Polyploidy2617-3 Monoploid Organisms2667-4 Extra or Missing Chromosomes2677-5 Human Chromosomes269Trisomy in Human Beings274Dosage Compensation274The Calico Cat As Evidence for X-Chromosome Inactivation277Sex-Chromosome Abnormalities278The Fragile-X Syndrome279Chromosome Abnormalities in Spontaneous Abortion2807-6 Abnormalities in Chromosome Structure281Deletions281Duplications282Unequal Crossing-Over in Human Red-Green Color Blindness283Inversions286Reciprocal Translocations288Robertsonian Translocations2937-7 Position Effects on Gene Expression2967-8 Chromosome Abnormalities and Cancer297Retinoblastoma and Tumor-Suppressor Genes298Chapter End MaterialChapter Summary300Key Terms300Review the Basics301Guide to Problem Solving301Analysis and Applications302Challenge Problems305Further Reading305Special FeaturesConnection: The First Human Chromosomal DisorderJerome Lejeune, Marthe Gautier, and Raymond Turpin 1959Study of the somatic chromosomes of nine Down syndromechildren271Connection: Lyonization of an X ChromosomeMary F.