Concepts of Genetics PDF
Preview Concepts of Genetics
This page intentionally left blank C O N C E P T S O F C O N C E P T S O F T E N T H E D I T I O N William S. Klug T H E C O L L E G E O F N E W J E R S E Y Michael R. Cummings I L L I N O I S I N S T I T U T E O F T E C H N O L O G Y Charlotte A. Spencer U N I V E R S I T Y O F A L B E R T A Michael A. Palladino M O N M O U T H U N I V E R S I T Y Boston Columbus Indianapolis New York San Francisco Upper Saddle River Amsterdam Cape Town Dubai London Madrid Milan Munich Paris Montréal Toronto Delhi Mexico City São Paulo Sydney Hong Kong Seoul Singapore Taipei Tokyo Credits and acknowledgments borrowed from other sources and Editor-in-Chief: Beth Wilbur reproduced, with permission, in this textbook appear on p. C-1. 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Library of Congress Cataloging-in-Publication Data Concepts of genetics / William S. Klug ... [et al.].—10th ed. p. ; cm. Includes bibliographical references and index. ISBN-13: 978-0-321-72412-0 (student ed.) ISBN-10: 0-321-72412-7 (student ed.) ISBN-13: 978-0-321-75435-6 (a la carte) ISBN-10: 0-321-75435-2 (a la carte) I. Klug, William S. [DNLM: 1. Genetic Phenomena. QU 500] LC classifcation not assigned 576.5—dc23 2011034277 1 2 3 4 5 6 7 8 9 10—CRK—15 14 13 12 11 www.pearsonhighered.com ISBN 10: 0-321-72412-7; ISBN 13: 978-0-321-72412-0 (Student edition) ISBN 10: 0-321-75435-2; ISBN 13: 978-0-321-75435-6 (A La Carte) ISBN 10: 0-321-81251-4; ISBN 13: 978-0-321-81251-3 (Exam Copy) About the Authors William S. Klug is Professor of Biology at Te College of Charlotte A. Spencer is a retired Associate Professor from New Jersey (formerly Trenton State College) in Ewing, New the Department of Oncology at the University of Alberta in Jersey, where he served as Chair of the Biology Department Edmonton, Alberta, Canada. She has also served as a faculty for 17 years. He received his B.A. degree in Biology from member in the Department of Biochemistry at the Univer- Wabash College in Crawfordsville, Indiana, and his Ph.D. sity of Alberta. She received her B.Sc. in Microbiology from from Northwestern University in Evanston, Illinois. Prior the University of British Columbia and her Ph.D. in Genet- to coming to Te College of New Jersey, he was on the fac- ics from the University of Alberta, followed by postdoctoral ulty of Wabash College as an Assistant Professor, where he training at the Fred Hutchinson Cancer Research Center frst taught genetics, as well as general biology and electron in Seattle, Washington. Her research interests involve the microscopy. His research interests have involved ultrastruc- regulation of RNA polymerase II transcription in cancer tural and molecular genetic studies of development, utilizing cells, cells infected with DNA viruses, and cells traversing oogenesis in Drosophila as a model system. He has taught the mitotic phase of the cell cycle. She has taught courses the genetics course as well as the senior capstone seminar in biochemistry, genetics, molecular biology, and oncology, course in Human and Molecular Genetics to undergraduate at both undergraduate and graduate levels. In addition, she biology majors for over four decades. He was the recipient in has written booklets in the Prentice Hall Exploring Biology 2001 of the frst annual teaching award given at Te College series, which are aimed at the undergraduate nonmajor of New Jersey, granted to the faculty member who “most level. challenges students to achieve high standards.” He also re- ceived the 2004 Outstanding Professor Award from Sigma Michael A. Palladino is Dean of the School of Science Pi International, and in the same year, he was nominated as and Associate Professor in the Department of Biology at the Educator of the Year, an award given by the Research and Monmouth University in West Long Branch, New Jer- Development Council of New Jersey. sey. He received his B.S. degree in Biology from Trenton State College (now known as The College of New Jersey) Michael R. Cummings is Research Professor in the De- and his Ph.D. in Anatomy and Cell Biology from the partment of Biological, Chemical, and Physical Sciences at University of Virginia. He directs an active laboratory of Illinois Institute of Technology, Chicago, Illinois. For more undergraduate student researchers studying molecular than 25 years, he was a faculty member in the Depart- mechanisms involved in innate immunity of mamma- ment of Biological Sciences and in the Department of Mo- lian male reproductive organs and genes involved in lecular Genetics at the University of Illinois at Chicago. He oxygen homeostasis and ischemic injury of the testis. He has also served on the faculties of Northwestern University has taught a wide range of courses for both majors and and Florida State University. He received his B.A. from nonmajors and currently teaches genetics, biotechnol- St. Mary’s College in Winona, Minnesota, and his M.S. and ogy, endocrinology, and laboratory in cell and molecular Ph.D. from Northwestern University in Evanston, Illinois. In biology. He has received several awards for research and addition to this text and its companion volumes, he has also teaching, including the New Investigator Award of the written textbooks in human genetics and general biology for American Society of Andrology, the 2005 Distinguished nonmajors. His research interests center on the molecular Teacher Award from Monmouth University, and the organization and physical mapping of the heterochromatic 2005 Caring Heart Award from the New Jersey Asso- regions of human acrocentric chromosomes. At the under- ciation for Biomedical Research. He is co-author of the graduate level, he teaches courses in Mendelian and molecular undergraduate textbook Introduction to Biotechnology, genetics, human genetics, and general biology, and has re- Series Editor for the Benjamin Cummings Special Topics ceived numerous awards for teaching excellence given by uni- in Biology booklet series, and author of the first booklet versity faculty, student organizations, and graduating seniors. in the series, Understanding the Human Genome Project. This page intentionally left blank Brief Contents P A R T O N E S P E C I A L T O P I C S G E N E S , C H R O M O S O M E S , I N M O D E R N G E N E T I C S A N D H E R E D I T Y I DNA Forensics 493 1 Introduction to Genetics 1 II Genomics and Personalized Medicine 504 2 Mitosis and Meiosis 18 III Epigenetics 517 3 Mendelian Genetics 42 IV Stem Cells 529 4 Extensions of Mendelian Genetics 71 5 Chromosome Mapping in Eukaryotes 105 P A R T F O U R 6 Genetic Analysis and Mapping in Bacteria and Bacteriophages 143 G E N O M I C S 7 Sex Determination and Sex Chromosomes 174 20 Recombinant DNA Technology 545 8 Chromosome Mutations: Variation in Number and Arrangement 197 21 Genomics, Bioinformatics, and Proteomics 574 9 Extranuclear Inheritance 221 22 Applications and Ethics of Genetic Engineering and Biotechnology 621 P A R T T W O D N A : S T R U C T U R E , P A R T F I V E R E P L I C A T I O N , A N D V A R I A T I O N G E N E T I C S O F O R G A N I S M S 10 DNA Structure and Analysis 238 A N D P O P U L A T I O N S 11 DNA Replication and Recombination 269 23 Q uantitative Genetics and Multifactorial 12 DNA Organization in Chromosomes 294 Traits 659 24 Genetics of Behavior 680 P A R T T H R E E 25 Population and Evolutionary G ENE EXPRESS ION, Genetics 697 R EGULATION, AND 26 Conservation Genetics 725 D EVELOPMENT 13 The Genetic Code and Transcription 315 Appendix A Selected Readings A-1 14 Translation and Proteins 344 Appendix B Answers A-13 15 Gene Mutation, DNA Repair, Glossary G-1 and Transposition 374 Credits C-1 16 Regulation of Gene Expression Index I-1 in Prokaryotes 403 17 Regulation of Gene Expression in Eukaryotes 426 18 Developmental Genetics 451 19 Cancer and Regulation of the Cell Cycle 473 vii Conceptual Understanding The book’s conceptual focus emphasizes the fundamental ideas of genetics, helping students Transmission electron micrograph of conjugating comprehend and remember the E. coli. key ideas. 6 CHA P T E R C O N C E P T S ■ Bacterial genomes are most often contained in a single circular chromosome. Genetic Analysis ■ Bacteria have developed numerous ways of exchanging and recombining genetic information between individual cells, and Mapping including conjugation, transformation, and transduction. ■ The ability to undergo conjugation and to transfer the bacterial in Bacteria and icnhfroormoastioomn ec ofrnotmai noende icne tllh teo D aNnoAt hoef ra i s“ fgeortvielirtny,e”d o bry F g, efancetoicr . Bacteriophages ■ Tcyhteo pF lfaascmto ar sc a np leaxsismt iadu, toorn iot mcaonu isnlyt eignr tahte ibnatcot ethriea lb acte- rial chromosome, where it facilitates the transfer of the host chromosome to the recipient cell, leading to genetic recombination. ■ Bacteriophages are viruses that have bacteria as their hosts. Key Concepts are listed within chapter Viral DNA is injected into the host cell, where it replicates and directs the reproduction of the bacteriophage and the openers to help students focus on the core lysis of the bacterium. ■ During bacteriophage infection, replication of the phage ideas of each chapter. DNA may be followed by its recombination, which may serve as the basis for intergenic and intragenic mapping. ■ Rarely, following infection, bacteriophage DNA integrates into the host chromosome, becoming a prophage, where it is replicated along with the bacterial DNA. The key concepts are revisited in greater detail in the end of Summary Points Ftoor tahcet isvtuitdieys ,a arenaim aat twiownws,. manadst reerviniegwge qnuetiziczse.sc,o gmo chapter Summary Points. 1. cGoennjeutgica trioecno, mtrabninsfaotiromna tiino nb,a acntedr itar atnaskdeus cptiloacne. in three ways: 7. rBeapcrtoerdiuocpeh, aagneds tchaenn b ley sley tiitc, , omr einan cionngt rthasety, tihnefeyc ct atnh el yhsosgte nceizlle, 2. Conjugation may be initiated by a bacterium housing a plasmid the host cell, where they infect it and integrate their DNA into called the F factor in its cytoplasm, making it a donor cell. Fol- the host chromosome, but do not reproduce. floacwtoinrg a ncodn ijsu cgoantivoenr,t etdh et or ethciep Fie+nts tcaetulls r.eceives a copy of the F 8. WTrahnesnd au clytisoong eisn ivzierdu sb-macetedriiautmed sbuabcsterqiuael nDtNly Ar ereenctoemrsb tihnea tliyotnic. 3. When the F factor is integrated from the cytoplasm into the cycle, the new bacteriophages serve as vehicles for the transfer chromosome, the cell remains as a donor and is referred to as of host (bacterial) DNA. an Hfr cell. Upon mating, the donor chromosome moves uni- 9. Various mutant phenotypes, including mutations in plaque directionally into the recipient, initiating recombination and morphology and host range, have been studied in bacterio- providing the basis for time mapping of the bacterial chromo- phages and have served as the basis for mapping in these vi- some. ruses. 4. Plasmids, such as the F factor, are autonomously replicating 10. Transduction is also used for bacterial linkage and mapping DNA molecules found in the bacterial cytoplasm, sometimes studies. containing unique genes conferring antibiotic resistance as 11. Various mutant phenotypes, including mutations in plaque well as the genes necessary for plasmid transfer during conju- morphology and host range, have been studied in bacterio- gation. phages. These have served as the basis for investigating genetic 5. Transformation in bacteria, which does not require cell-to-cell exchange and mapping in these viruses. contact, involves exogenous DNA that enters a recipient bac- 12. Genetic analysis of the rII locus in bacteriophage T4 allowed terium and recombines with the host’s chromosome. Linkage Seymour Benzer to study intragenic recombination. By isolat- mapping of closely aligned genes is possible during the analysis ing rII mutants and performing complementation analysis, re- of transformation. combinational studies, and deletion mapping, Benzer was able 6. Bacteriophages, viruses that infect bacteria, demonstrate a well- to locate and map more than 300 distinct sites within the two defined life cycle where they reproduce within the host cell and cistrons of the rII locus. can be studied using the plaque assay. viii
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