Chapter 5 Genome Sequences and Evolution
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CHAPTER 5 © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC NOT FOR SALE OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC NOT FOR SALE OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC NOT FOR SALE OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC NOT FOR SALE OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION Genome Sequences © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC and ENOTvolu FOR SALEtion OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION CHAPTER OUTLINE © Jones & Bartlett Learning, LLC © Jones & Bartlett Learning, LLC 5.1 Introduction 5.13 A Constant Rate of Sequence Divergence Is NOT FOR SALE OR DISTRIBUTION NOT FOR SALE OR DISTRIBUTION 5.2 Prokaryotic Gene Numbers Range Over an a Molecular Clock Order of Magnitude 5.14 The Rate of Neutral Substitution Can Be 5.3 Total Gene Number Is Known for Several Measured from Divergence of Repeated Eukaryotes Sequences © Jones &5.4 Bartlett How Many Learning, Different LLC Types of Genes Are © Jones5.15 &How Bartlett Did Interrupted Learning, Genes LLC Evolve? NOT FOR SALEThere? OR DISTRIBUTION NOT 5.16FOR Why SALE Are OR Some DISTRIBUTION Genomes So Large? 5.5 The Human Genome Has Fewer Genes Than 5.17 Morphological Complexity Evolves by Originally Expected Adding New Gene Functions 5.6 How Are Genes and Other Sequences 5.18 Gene Duplication Contributes to Genome Distributed in ©the Jones Genome? & Bartlett Learning, LLC Evolution © Jones & Bartlett Learning, LLC 5.7 The Y ChromosomeNOT HasFOR Several SALE OR DISTRIBUTION5.19 Globin Clusters AriseNOT by DuplicationFOR SALE and OR DISTRIBUTION Male-Specific Genes Divergence 5.8 How Many Genes Are Essential? 5.20 Pseudogenes Have Lost Their Original 5.9 About 10,000 Genes Are Expressed at Functions ©Widely Jones Differing & Bartlett Levels Learning, in a Eukaryotic LLC Cell 5.21 Genome© Jones Duplication & Bartlett Has PlaLearning,yed a Role LLC in 5.10 NOTExpressed FOR SALEGene Number OR DISTRIBUTION Can Be Measured PlantNOT and FOR Vertebrate SALE Evolution OR DISTRIBUTION En Masse 5.22 What Is The Role of Transposable Elements 5.11 DNA Sequences Evolve by Mutation and a in Genome Evolution? Sorting Mechanism 5.23 There May Be Biases in Mutation, Gene © Jones &5.12 Bartlett Selection Learning, Can Be DetectLLC ed by Measuring © Jones &Conversion, Bartlett Learning, and Codon LLCUsage NOT FOR SALESequence OR DISTRIBUTION Variation NOT FOR SALE OR DISTRIBUTION Top texture: © Laguna Design / Science Source; Chapter Opener: Image courtesy of U.S. Department of Energy. Used with permission of Lisa J. Stubbs, University of Illinois at Urbana-Champaign. 101 9781284104646_CH05_101_142.indd 101 01/02/17 5:03 PM © Jones & Bartlett Learning LLC, an Ascend Learning Company. NOT FOR SALE OR DISTRIBUTION. 5.1 Introduction 500 genes © Jones Since& Bartlett the first completeLearning, organismal LLC genomes were sequenced© Jones & BartlettIntracellular Learning,(parasitic) LLC NOT FORin SALE 1995, both OR the DISTRIBUTION speed and range of sequencing have greatlyNOT FOR SALEbacterium OR DISTRIBUTION improved. The first genomes to be sequenced were small bacterial genomes of less than 2 megabase (Mb) in size. By 2002, the human genome of about 3,200 Mb had been sequenced. Genomes have now been sequenced from a wide 1,500 genes range of organisms, including© Jones bacteria, & archaeans,Bartlett yeasts,Learning, and LLC Free-living bacterium © Jones & Bartlett Learning, LLC other unicellular eukaryotes,NOT plants,FOR andSALE animals, OR including DISTRIBUTION NOT FOR SALE OR DISTRIBUTION worms, flies, and mammals. Perhaps the single most important piece of information provided by a genome sequence is the number of genes. (See 5,000 genes the chapter titled The Content of the Genome for a discussion Unicellular eukaryote about© the Jones difficulties & Bartlett of defining Learning, a gene; for ourLLC purposes, © Jones & Bartlett Learning, LLC the termNOT gene FOR refers SALE to a DNA OR sequenceDISTRIBUTION transcribed to a NOT FOR SALE OR DISTRIBUTION functional RNA molecule.) Mycoplasma genitalium, a free- living parasitic bacterium, has the smallest known genome 13,000 genes of any organism, with about only 470 genes. The genomes of Multicellular eukaryote free-living bacteria have from 1,700 to 7,500 genes. Archaean © Jones &genomes Bartlett have Learning, a smaller range LLC of 1,500 to 2,700 genes.© Jones & Bartlett Learning, LLC NOT FORThe SALE smallest OR unicellular DISTRIBUTION eukaryotic genomes have aboutNOT FOR SALE OR DISTRIBUTION 5,300 genes. Nematode worms and fruit flies have roughly 21,700 and 17,000 genes, respectively. Surprisingly, the num- 25,000 genes ber rises only to 20,000 to 25,000 for mammalian genomes. Higher plants FIGURE 5.1 summarizes the minimum number of genes found in six groups of organisms.© Jones A cell& Bartlett requires a minimumLearning, LLC © Jones & Bartlett Learning, LLC of about 500 genes, a free-livingNOT FOR cell SALE requires OR about DISTRIBUTION 1,500 NOT FOR SALE OR DISTRIBUTION genes, a eukaryotic cell requires more than 5,000 genes, a 25,000 genes multicellular organism requires more than 10,000 genes, Mammals and an organism with a nervous system requires more than 13,000 genes. Many species have more than the minimum number© Jonesof genes required,& Bartlett so the Learning, number of genes LLC can vary FIGURE 5.1 ©The Jones minimum & gene Bartlett number Learning,required for any LLC type of organism increases with its complexity. widely,NOT even FORamong SALE closely related OR DISTRIBUTION species. NOT FOR SALE OR DISTRIBUTION (a) Photo of intracellular bacterium courtesy of Gregory P. Henderson and Grant J. Jensen, California Institute of Within prokaryotes and unicellular eukaryotes, most Technology. genes are unique. Within multicellular eukaryotic genomes, (b) Courtesy of Rocky Mountain Laboratories, NIAID, NIH. (c) Courtesy of Eishi Noguchi, Drexel University College of Medicine. however, some genes are arranged into families of related (d) Courtesy of Carolyn B. Marks and David H. Hall, Albert Einstein College of Medicine, Bronx, NY. members. Of course, some genes are unique (meaning the (e) Courtesy of Keith Weller/USDA. © Jones &family Bartlett has only Learning, one member), LLC but many belong to families© Jones(f) © Photodisc. & Bartlett Learning, LLC NOT FORwith SALE 10 or ORmore DISTRIBUTION members. The number of different familiesNOT FOR SALE OR DISTRIBUTION may be a better indication of the overall complexity of the The availability of the genome sequences of genetic organism than the number of genes. “model organisms” (e.g., Escherichia coli, yeast, Drosophila, Some of the most insightful information comes from Arabidopsis, and humans) in the late 1990s and early 2000s comparing genome sequences. The growing number of com- allowed comparisons between major taxonomic groups such plete genome sequences© has Jones provided & Bartlettvaluable opportuni Learning,- LLCas prokaryote versus eukaryote,© animalJones versus & Bartlett plant, or verLearning,- LLC ties to study genome structureNOT FORand organization. SALE OR As DISTRIBUTIONgenome tebrate versus invertebrate. MoreNOT recently, FOR data SALE from multiple OR DISTRIBUTION sequences of related species become available, there are oppor- genomes within lower-level taxonomic groups (classes down tunities to compare not only individual gene differences but to genera) have allowed closer examination of genome evo- also large-scale genomic differences in aspects such as gene lution. Such comparisons have the advantage of highlighting distribution, the proportions of nonrepetitive and repetitive changes that have occurred much more recently and are less DNA© and Jones their functional & Bartlett potentials, Learning, and the number LLC of cop- obscured by© additional Jones &changes, Bartlett such Learning,as multiple mutations LLC ies ofNOT repetitive FOR sequences. SALE By OR making DISTRIBUTION these comparisons, we at the sameNOT site. In FOR addition, SALE evolutionary OR DISTRIBUTION events specific to can gain insight into the historical genetic events that have a taxonomic group can be explored. For example, human– shaped the genomes of individual species and of the adaptive chimpanzee comparisons can provide information about and nonadaptive forces at work following these events. For primate-specific genome evolution, particularly when com- example, with the sequences now available for both the human pared with an outgroup (a species that is less closely related, © Jones &and Bartlett chimpanzee Learning, genomes, it LLC is possible to begin to address© Jonesbut close & Bartlett enough to Learning,show substantial LLC similarity) such as the NOT FORsome SALE of the OR questions DISTRIBUTION about what makes humans unique. NOT mouse.FOR SALEOne recent OR milestone DISTRIBUTION in this field of comparative 102 Chapter 5 Genome Sequences and Evolution 9781284104646_CH05_101_142.indd 102 01/02/17 5:03 PM © Jones & Bartlett Learning LLC, an Ascend Learning Company. NOT FOR SALE OR DISTRIBUTION. genomics is the completion of genome sequences of nearly with metabolic functions (which are largely provided by the 30 species of the genus Drosophila. These types of fine-scale host cell) and with regulation of gene expression.