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Spann, James, Meteorologist has reference to this Academic Journal, PHwiki organized this Journal Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Genetics: The study of biological in as long as mation 1.1 DNA: The Fundamental In as long as mation Molecule of Life 1.2 Proteins: The Functional Molecules of Life Processes 1.3 Complex Systems in addition to Molecular Interactions 1.4 Molecular Similarities of all Life-Forms 1.5 The Modular Construction of Genomes 1.6 Modern Genetic Techniques 1.7 Human Genetics CHAPTER OUTLINE CHAPTER Introduction to Genetics in the Twenty-First Century CHAPTER Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Three levels of biological in as long as mation DNA Macromolecule made of nucleic acids Repository of the genetic code Proteins Macromolecules made of amino acids Amino acid sequence determined by DNA sequence Biological systems Network of interactions between molecules or groups of cells Accomplish coordinated functions

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Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 The biological in as long as mation in DNA generates an enormous diversity of living organisms Fig. 1.1 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Complementary base pairs are a key feature of the DNA molecule G – C in addition to A – T hydrogen bonds between each str in addition to of the double helix The two str in addition to s of the double helix are in opposite orientation DNA is comprised of four nitrogenous bases [guanine (G), adenine (A), cytosine (C), in addition to thymine (T)], a deoxyribose, in addition to a phosphate Fig. 1.2 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 The in as long as mation in DNA is one-dimensional in addition to is digital DNA sequence can be h in addition to led by computers Automated DNA sequencers can sequence about 106 base pairs/day New technologies can sequence even more DNA per day Fig. 1.3 Biological in as long as mation is encoded in the nucleotide sequence of DNA in addition to each unit of in as long as mation is discrete

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Organization of genetic in as long as mation in cells Genes are sequences of DNA that encode proteins Chromosomes are organelles that package in addition to manage the storage, duplication, expression, in addition to evolution of DNA Genomes are the entire collection of chromosomes in each cell of an organism The human genome: 24 kinds of chromosomes 3 x 109 base pairs Encodes 20,000 – 30,000 genes Figure 1.4 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Proteins are polymers of hundreds to thous in addition to s of amino acids There are 20 different amino acids In as long as mation in DNA of a gene dictates the sequence of amino acids as long as the protein The order of amino acids determines the type of protein in addition to its three dimensional structure Diversity of three-dimensional structure of protein generates an extraordinary diversity of protein function Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 The amino acid sequence determines the three-dimensional shape of the protein Chemical as long as mulas as long as two amino acids Three-dimensional shapes of two proteins Figure 1.5a Figure 1.5c

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Conversion of biological in as long as mation from a one- to a four-dimensional state Fig. 1.6 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Evolution of biological in as long as mation on earth RNA may have been the first in as long as mation-processing molecule Has ability to store, replicate, mutate, express in as long as mation, in addition to fold in 3-dimensions RNA is unstable so other stable macromolecules evolved DNA took over the linear in as long as mation in addition to replication functions Proteins took over the 3-dimensional folding functions All organisms alive now descended from the first organisms that adopted this molecular specialization Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 RNA evolved into an intermediary in conversion of DNA in as long as mation into protein RNA is comprised of four nitrogenous bases [guanine (G), adenine (A), cytosine (C), in addition to uracil (U)], a ribose, in addition to a phosphate Bases are read as triplets to encode amino acid subunits of protein Fig 1.7a

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 All living organisms use essentially the same genetic code Specific triplets of RNA bases encode the 20 amino acids Figure 1.7b Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Many genes have similar functions in different organisms Comparison of gene products in different organisms can reveal identical in addition to similar amino acid sequences e.g. cytochrome C protein from six species Figure 1.8 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 A gene from one organism can functionally replace a gene in another organism Example: Pax6 gene is required as long as eye development in insects, mice, in addition to humans Expression of human Pax6 gene in Drosophila can induce eye development Figure 1.9

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Fossil evidence as long as some of the major stages in the evolution of life Duplication in addition to divergence of genetic in as long as mation is evident in the evolutionary history of life Table 1.1 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 The modular construction of genomes Hierarchical organization of in as long as mation in chromosomes In eukaryotes, exons are arranged into genes Exons from different genes can be rearranged to create new combinations Genes can duplicate in addition to diverge to create multi-gene families Multi-gene families can rapidly exp in addition to to create super-families Regulatory networks that control gene expression can change rapidly Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Evolution of gene families by duplication of ancestral genes Gene duplication followed by sequence divergence underlies the evolution of new genes with new functions Figure 1.10

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Example of the effects of changes to a key regulatory network Two-winged flies evolved from four-winged flies This evolutionary change was also accomplished in the lab Mutation of a regulatory network converts a normal two-winged fly into a four-winged fly Figure 1.11 Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Modern genetic techniques Genetic dissection of model organisms Inactivate a gene in addition to observe the consequences Genome sequencing Human Genome Project Model organisms in addition to other organisms Underst in addition to ing higher-order processes that arise from interacting biological networks Genomics can rapidly analyze thous in addition to s of genes High-throughput DNA sequencing in addition to genotyping Large-scale DNA arrays (chips) Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Genomes of five model organisms were sequenced as part of the Human Genome Project Figure 1.12

Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 New global tools of genomics can analyze thous in addition to s of genes rapidly Figure 1.13a Schematic drawing of the components of a DNA chip Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Hybridization of cDNAs made from cellular mRNAs to a DNA chip Figure 1.13b Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Computerized analysis of chip hybridizations can be used to compare mRNA expression in two types of cells Figure 1.13c Thous in addition to s of genes can be simultaneously analyzed In this example, genes whose expression was altered by treatment with an experimental cancer drug were identified using a DNA chip

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Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 The focus of this book is on human genetics Genetics has powerful tools as long as underst in addition to ing human biology Paradigm shift from studying one gene or protein at a time to studying interacting networks of many genes in addition to proteins Molecular studies can lead to predictive in addition to preventive medicine DNA diagnostics can be used to generate a genetic profile of an individual Design of therapeutic drugs to prevent or minimize symptoms of gene-based diseases Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Important implications of genetics to social issues Entire genetic profiles of individuals will become available This genetic in as long as mation can be used to help people Make predictions about future possibilities in addition to risks Or, genetic in as long as mation could also be used to to restrict people’s lives Genetic In as long as mation Nondiscrimination Act was passed by the federal government in 2008 Prohibits discrimination on the basis of genetic tests by insurance companies in addition to employers Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 1 Important implications of genetics to social issues (continued) Proper interpretation of genetic in as long as mation in addition to underst in addition to ing of statistical concepts is essential Regulation in addition to control of new technology Transgenic technology (genetic engineering) is routine in many animals Should genetic engineering of human embryos be allowed Guidelines must be established to prevent misuse of new knowledge in human genetics

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