Introduction
Very few events in human history can be said, in retrospect, to divide time. September 11, 2001, is one such date.
I was revising this edition on that bright and clear Tuesday morning, looking forward to penning an upbeat preface celebrating the human genome annotation proceeding in various laboratories. It was not to be. Now as I write this, the largest such lab is instead applying the high-throughput DNA sequencing that it used to sequence the human genome to analyzing thousands of bits of teeth and bones that arrive daily in evidence bags. Somber lab workers are extracting the mitochondrial DNA that persists after the genetic material of softer tissues is obliterated by fire and crushing pressure. Earlier, closer to that date that divided time, DNA fingerprinters at another biotech company probed softer samples shipped from the wreckage, along with cheekbrush samples bearing DNA from relatives, and bits of skin and hair left clinging to toothbrushes and hairbrushes and clothing on a day that everyone thought would be like any other. It was an astonishing and horrifying contrast to the depiction of DNA fingerprinting in the first chapter of the fourth edition of this book - tracing the ancestry of wine grapes.
Times have changed.
With DNA sequencing subverted to a purpose that no one could have predicted, revising a textbook didn't, at first, seem very important anymore. But in the weeks that followed September 11, as the belated recognition and response to bioterrorism exposed a frighteningly pervasive lack of knowledge of basic biology among our leaders, the importance of the average citizen's understanding of what genes are and what they do emerged. At the same time, new questions arose. Should researchers continue to publish new genome sequences? Suddenly, those wondrous reports of unexpected gene discoveries mined from microbial genomes held the seeds of potential weaponry.
Times have changed.
Before September 11, politicians hotly debated stem cells, renegade scientists touted their human cloning efforts, and environmentalists donned butterfly suits and destroyed crops to protest the perceived threat of corn genetically altered to escape the jaws of caterpillars. Gene therapy struggled to regain its footing in the wake of a tragic death in 1999, while a spectacularly successful new cancer drug, based on genetic research, hit the market. With time, interest in these areas will return, and maybe we will even begin to care again about the ancestry of wine grapes. Human Genetics: Concepts and Applications, fifth edition will guide the reader in understanding genetics and genomics and applying it to daily life. That has not changed.What's New and Exciting About This EditionFocus on Genomics - Of SNPs, Chips, and More
While Mendel's laws, the DNA double helix, protein synthesis and population dynamics will always form the foundation of genetics, the gradual shift to a genomic view opens many new research doors, and introduces new ways of thinking about ourselves. Completion of the human genome draft sequence has catapulted human genetics from the one-gene-at-a-time approach of the last half of the last century to a more multifactorial view. Genes and the environment interact to mold who we are. It is a little like jumping from listening to individual instruments to experiencing a symphony created by an entire orchestra.
The fourth edition of Human Genetics: Concepts and Applications introduced genomics; in the fifth edition, the impact of this new view of genes is so pervasive that it is integrated into many chapters, rather than saved for a final chapter. Rather than bludgeon the reader with details, acronyms and jargon, the approach to genomics is in context - association studies in chapter 7, human genome annotation in chapter 10, filling in chromosome details in chapter 12, and glimpses into human evolution in chapter 15. Immunity is presented in chapter 16 from the point of view of the pathogen, courtesy of genomes. Because of the integration of the genomic view throughout the text, the final chapter is free to tell the story of how this view came to be - and where it will go. New Chapter on Behavior
The evolution of genetic thought, from a Mendelian paradigm to a much broader consideration of genes against a backdrop of environmental influences, is perhaps nowhere more evident than in the study of human behavior. With each edition, coverage of behavior has expanded until, like a cell accumulating cytoplasm, a division was in order. The resulting binary fission of the fourth edition's chapter 7 - Multifactorial and Behavioral Traits - naturally yielded a chapter on methods and basic concepts, and another on specific interesting behaviors.
Chapter 7 in this fifth edition, Multifactorial Traits, retains the classical adoption/twin/empiric risk approaches, and introduces association studies, which are critical in analyzing the traits and disorders described in depth in chapter 8, The Genetics of Behavior.
The topics for chapter 8 came from two general sources - my curiosity, and information from several human genome conferences held since 2000. The chapter opens with a focus on new types of evidence about the role of genes in behavior, then applies these new tools to dissect the genetic underpinnings of:
Eating disorders
Sleep
Intelligence
Drug addiction
Mood disorders (depression and bipolar disorder)
Schizophrenia
The chapter is entirely new, with many compelling examples from the biomedical literature and interviews with researchers.Fabulous New Art
Long-time users of Human Genetics: Concepts and Applications will note at a glance that all of the art is new. Vibrant new colors and closer attention to clarity of concepts ease the learning experience and make studying this complex subject less intimidating. Some of the figures are also available as Active Art, which enables the learner to manipulate portions of the illustration to review the steps to a process. Entirely new illustrations include:
7.11 Association studies are correlations of SNP profiles
8.6 How alcohol alters gene expression in the brain
16.19 M cells set up immunity in the digestive tract
19.1,2,3 Three gene therapies
20.9 The global GM foods picture
22.4 Two routes to the human genome sequence
22.9 Genome sequencing, from start to finish
22.10 Comparative genomics
Several new photos put faces on genetic diseases.Tables Tell the Tale
A student reviewing for an impending exam should be able to get the gist of a chapter in 10 minutes by examining the tables - if the tables are appropriately chosen and presented, as they are in this book. Table 8.5, for example, reviews every behavioral trait or disorder discussed in this new chapter, in the order of the subsections.
Most tables summarize and organize facts, easing studying. A few tables add information (table 12.1 Five Autosomes, table 14.1 Founder Populations; table 16.8 Sequenced Genomes of Human Pathogens), and some provide perspective (table 1.1 Effects of Genes on Health). Chapter 10, Gene Action and Expression, a top candidate for "toughest chapter," illustrates how the tables tell the tale:
Table 10.1 How RNA and DNA Differ
Table 10.2 Major Types of RNA
Table 10.3 Deciphering RNA Codons and the Amino Acids They Specify
Table 10.4 The Genetic Code
Table 10.5 The Non-protein Encoding Parts of the Genome
The final table in chapter 10 is new, a summary of answers to the question, certain to be posed by students and instructors alike, "If less than 2 percent of the genome encodes protein, what does the rest of it do?" This is a table that will obviously evolve with each edition as we learn more.New "In Their Own Words"
and Bioethics Boxes
"In Their Own Words" essays are written by individuals who experience inherited disease, as patients, family members, or researchers. New essays in the fifth edition introduce:
Patricia Wright, who only recently discovered that she has had signs and symptoms of alkaptonuria all her life. (chapter 5)
Francis Barany, a microbiologist who nearly burned his leg off searching for heat-loving bacteria with useful enzymes in a Yellowstone Park hot springs. (chapter 9)
Toby Rodman, an immunologist and octogenarian who discovered a new source of antibodies that may protect against HIV infection. (chapter 16)
They join from past editions Don Miller, the first recipient of gene therapy for hemophilia; Stefan Schwartz, who has Klinefelter disease, and Kathy Naylor, whose little girl died of cri-du-chat syndrome.
Bioethics: Choices for the Future essays continue their look at controversies that arise from genetic technology. These essays explore population databases (chapter 1), cloning and stem cell research (chapter 3), sex reassignment (chapter 6), xenotransplants (chapter 16), Canavan disease as a test of fair use of genetic tests (chapter 19) and GM foods (chapter 20). Bioethical issues weave throughout the narrative as well. New section 21.4, for example, examines the dilemma of what to do with in vitro fertilized "spares." Significant Changes
in Content
The two obvious changes in content are the addition of a chapter devoted to behavior, and a substantial new section in chapter 10, "The Human Genome Sequence Reveals Unexpected Complexity." This section is essentially a summary of the mid-February 2001 issues of Science and Nature, which covered the annotation of the draft human genome sequence, aka "the golden path." The rest of the chapter has been rewritten to embrace the new genome information as well.
Favorite examples and stories have been retained, and new ones added, many gleaned from my articles in The Scientist. They include:
A breast cancer DNA "chip" that predicts which drugs will work on which women (chapter 1)
Greatly expanded coverage of stem cells (chapters 2 and 3)
Relationship between Mendel's second law and DNA microarrays (chapter 4)
Clearer coverage of mitochondrial genes (chapter 5)
Moved and expanded coverage of DNA repair (chapter 11)
Updates on chromosome structure with new coverage of centromeres and subtelomeres (chapter 12)
Applications of DNA fingerprinting to events of 9-11-01 (chapter 13)
New coverage of genetic basis of resistance to AIDS drugs (chapter 14)
New section on genome distinctions between humans and chimps
(chapter 15)
Genome information applied to immunity, with new sections on crowd diseases, bioweapons, and pathogen genomes (chapter 16)
Genetic modification of pig excrement to reduce pollution (chapter 18)
Gene therapy for Canavan disease (chapter 19)
Impact of genomics on agricultural biotechnology (chapter 20)
History of the human genome project (chapter 22)
Supplements
As a full service publisher of quality educational products, McGraw-Hill does much more than just sell textbooks to your students. We create and publish an extensive array of print, video, and digital supplements to support instruction on your campus. Orders of new (versus used) textbooks help us to defray the cost of developing such supplements, which is substantial. Please consult your local McGraw-Hill representative to learn about the availability of the supplements that accompany Human Genetics: Concepts and Applications. For the Student
Online Learning Center: Get online at www.mhhe.com/lewisgenetics5.
Explore this dynamic site designed to help you get ahead and stay ahead in your study of human genetics. Some of the activities you will find on the website include:
- Self-quizzes to help you master material in each chapter
- Flash cards to ease learning of new vocabulary
- Case Studies to practice application of your knowledge of human genetics
- Links to resource articles, popular press coverage, and support groups
Genetics: From Genes to Genomes CD-ROM: This easy-to-use CD covers the most challenging concepts in the course and makes them more understandable through presentation of full-color animations and interactive exercises. Icons in the text indicate related topics on the CD.
Case Workbook in Human Genetics, third edition by Ricki Lewis, ISBN 0-07-246274-4: This workbook is specifically designed to support the concepts presented in Human Genetics through real cases adapted from recent scientific and medical journals, with citations included. With cases now specifically related to each chapter in the book, the workbook provides practice for constructing and interpreting pedigrees; applying Mendel's laws; reviewing the relationships of DNA, RNA, and proteins; analyzing the effects of mutations; evaluating phenomena that distort Mendelian ratios; designing gene therapies; and applying new genomic approaches to understanding inherited disease. An Answer Key is available for the instructor.
For the Instructor
Online Learning Center: Find complete teaching materials online at www.mhhe.com/lewisgenetics5/ including:
- A complete Instructor's Manual, prepared by Cran Lucas of Louisiana State University, is available online. Download the complete document or use it as a chapter resource as you prepare lectures or exams. Features of the manual include:
- Chapter outlines and overviews
- Chapter-by-chapter resource guide to use of visual supplements
- Answers to questions in the text
- Additional questions and answers for each chapter
- Internet resources and activities
- Downloadable Art is provided for each chapter in jpeg format for use in class presentations or handouts. In this edition, every piece of art from the text is provided as well as every table, and a number of photographs.
- Instructors will also find a link to Pageout: The Course Website Development Center to create your own course website. Pageout's powerful features help create a customized, professionally designed website, yet it is incredibly easy to use. There is no need to know any coding. Save time and valuable resources by typing your course information into the easy-to-follow templates.
Test Item File: Multiple choice questions and answers that may be used in testing are provided for each chapter. Prepared by Cran Lucas of Louisiana State University, this resource covers the important concepts in each chapter and provides a variety of levels of testing. The file is available through PageOut and is also available on a cross-platform CD to adopters of the text.
Overhead Transparencies: A set of 100 full-color transparencies showing key illustrations from the text is available for adopters. Additional images are available for downloading from the text website.
Digital Content Manager: New to this edition is an instructor's CD containing a powerful visual package for preparing your lectures in human genetics. On this CD, you will find:
- All Text Art in a format compatible with presentation or word processing software
- Powerpoint Presentations covering each chapter of the text
- New Active Art! Build images from simple to complex to suit your lecture style.
Acknowledgments
Many heartfelt thanks to Deborah Allen for guiding yet another edition of this, my favorite book, and to Joyce Berendes and Carol Kromminga and the superb artists at Precision Graphics for making this book possible. Many thanks also to my wonderful family, cats, guinea pigs, and Speedy the relocated tortoise.Reviewers
Many improvements in this edition are a direct result of the suggestions from reviewers and diarists who provided feedback for this edition and previous editions of Human Genetics: Concepts and Applications. To each of them, a sincere thanks. We also thank the students in Ruth Sporer's Human Genetics class at the University of Pennsylvania for their review of the fourth edition, Ivan E. Leigh of West Chester, Pennsylvania for his careful review of the manuscript from the perspective of a mature student, and Clifton Poodry, Director of Minority Opportunities in Research Division of NIH, for his advice about handling issues of diversity and difference with sensitivity throughout the book.Reviewers for This Edition
Michael Appleman, University of Southern California
Ruth Chesnut, Eastern Illinois University
Meredith Hamilton, Oklahoma State University
Martha Haviland, Rutgers University
Trace Jordan, New York University
A. Jake Lusis, University of California at Los Angeles
Charlotte K. Omoto, Washington State University
Bernard Possidente, Skidmore College
Ruth Sporer, University of Pennsylvania
John Sternick, Mansfield University
Dan Wells, University of HoustonWe also thank these instructors for their thoughtful feedback on the Fourth Edition.
Sidney L. Beck, DePaul University
Hugo Boschmann, Hesston College
Hessel Bouma III, Calvin College
David Fan, University of Minnesota
Russ Feirer, St. Norbert College
Rosemary Ford, Washington College
Gail E. Gasparich, Towson University
Werner Heim, The Colorado College
Tasneem F. Khaleel, Montana State University–Billings
Marion Klaus, Sheridan College–Wyoming
Ann Hofmann, Madisonville Community College
Thomas P. Lehman, Morgan Community College
Tyre J. Proffer, Kent State University
Shyamal K. Majumdar, Lafayette College
James J. McGivern, Gannon University
Philip Meneely, Haverford College
Karen E. Messley, Rock Valley College
Nawin C. Mishra, University of South Carolina
Grant G. Mitman, Montana Tech of The University of Montana
Venkata Moorthy, Northwestern Oklahoma State University
Tim Otter, Albertson College of Idaho
Oluwatoyin O. Osunsanya, Muskingum College
Joan M. Redd, Walla Walla College
Dorothy Resh, University of St. Francis
Nick Roster, Eastern Wyoming College
Lisa M. Sardinia, Pacific University
Brian W. Schwartz, Columbus State University
Jeanine Seguin, Keuka College
Keith L. Sternes, Sul Ross State University
Edwin M. Wong, Western Connecticut State UniversityReviewers for Previous Editions
Michael Abruzzo, California State University at Chico
Mary K. Bacon, Ferris State University
Susan Bard, Howard Community College
Sandra Bobick, Community College of Allegheny County
Robert E. Braun, University of Washington
James A. Brenneman, University of Evansville
Virginia Carson, Chapman University
Mary Curtis, M.D., University of Arkansas at Little Rock
Mary Beth Curtis, Tulane University
Ann Marie DiLorenzo, Montclair State College
Frank C. Dukepoo, Northern Arizona University
Robert Ebert, Palomar College
Larry Eckroat, Pennsylvania State University at Erie
Jack Fabian, Keene State College
David Fromson, California State University–Fullerton
Elizabeth Gardner, Pine Manor College
Michael A. Gates, Cleveland State University
Donald C. Giersch, Triton College
Miriam Golomb, University of Missouri–Columbia
Meredith Hamilton, Oklahoma State University
Greg Hampikian, Clayton College and State University
George A. Hudock, Indiana University
Neil Jensen, Weber State College
William J. Keppler, Florida International University
Valerie Kish, University of Richmond
Arthur L. Koch, Indiana University
Richard Landesman, University of Vermont
Mira Lessick, Rush University
Cran Lucas, Louisiana State University at Shreveport
Jay R. Marston, Lane Community College
Joshua Marvit, Penn State University
James J. McGivern, Gannon University
Denise McKenney, University of Texas of the Permian Basin
Wendell H. McKenzie, North Carolina State University
Mary Rengo Murnik, Ferris State University
Michael E. Myszewski, Drake University
Donald J. Nash, Colorado State University
Charlotte K. Omoto, Washington State University
David L. Parker, Northern Virginia Community College—Alexandria Campus
Jack Parker, Southern Illinois University at Carbondale
Michael James Patrick, Seton Hill College
Bernard Possidente, Skidmore College
Albert Robinson, SUNY at Potsdam
Peter A. Rosenbaum, SUNY–Oswego
Peter Russel, Chaffey College
Polly Schulz, Portland Community College
Georgia Floyd Smith, Arizona State University
Jolynn Smith, Southern Illinois University at Carbondale
Anthea Stavroulakis, Kingsborough Community College
Margaret R. Wallace, University of Florida
Robert Wiggers, Stephen F. Austin State University
Roberta B. Williams, University of Nevada–Las Vegas
H. Glenn Wolfe, University of Kansas
Virginia Wolfenberger, Texas Chiropractic College
Janet C. Woodward, St. Cloud State University
Connie Zilles, West Valley College
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2003 McGraw-Hill Higher Education