J ohn Wiley & Sons, Inc. Chapter Outline An Invitation Three Great Milestones in Genetics DNA as the Genetic Material Genetics and Evolution Levels of Genetic Analysis Genetics in the World: Applications of Genetics to Human endeavours J ohn Wiley & Sons, Inc. Three Great Milestones in Genetics Gregor Mendel: Genes and the rules of inheritance James Watson and Francis Crick: the structure of DNA The Human Genome Project: sequencing DNA and cataloguing genes J ohn Wiley & Sons, Inc. Mendel: Genes and the Rules of Inheritance (1866) Geneshereditary factors responsible for traits Allelesdifferent forms of genes Rules of Inheritance Alleles of the same gene separate during gamete formation Alleles of different genes are inherited independently What is a Gene? Genes are made of nucleic acids Nucleic acids are made of building blocks called nucleotides Nucleotides have three components Sugar molecule (ribose or deoxyribose) Phosphate molecule Nitrogen-containing molecule (adenine, guanine, cytosine, thymine, uracil) RNA is ribonucleic acid DNA is deoxyribonucleic acid Watson and Crick: The Structure of DNA (1953) Nucleotides are linked in a chain through sugar- phosphate interactions DNA molecules are made of two chains of nucleotides wound around each other in a helix Base pairs hold the chains together A pairs with T G pairs with C J ohn Wiley & Sons, Inc. The Human Genome Project: Sequencing DNA and Cataloguing Genes Genomethe collection of DNA molecules that is characteristic of an organism Genomics is the analysis of DNA sequences that make up a genome Genomics involves DNA sequencing technology, robotics, and computer science The Human Genome Project determined the sequence of nucleotides in the DNA of the human genome J ohn Wiley & Sons, Inc. Key Points Gregor Mendel postulated the existence of particular factorsnow called genesto explain how traits are inherited. Alleles, the alternate forms of genes, account for heritable differences among individuals. J ames Watson and Francis Crick elucidated the structure of DNA, a macromolecule composed of two complementary chains of nucleotides. J ohn Wiley & Sons, Inc. Key Points DNA is the hereditary material of all life forms except some types of viruses, in which RNA is the hereditary material. The Human Genome Project determined the sequence of nucleotides in the DNA of the human genome. Sequencing the DNA of a genome provides the data to identify and catalogue all the genes of an organism. J ohn Wiley & Sons, Inc. DNA as the Genetic Material Information flows Central dogma from DNA to RNA to protein. In all cellular organisms, the genetic material is DNA. The genetic material Must be able to replicate Must contain information Must be able to change J ohn Wiley & Sons, Inc. DNA Replication J ohn Wiley & Sons, Inc. DNA Replication Based on the complementary nature of the two strands of duplex DNA molecules. When the two parental strands are separated, the separated strands can serve as template for the synthesis of new strands. New strands are assembled by incorporating nucleotides according to base-pairing rules. At the end of replication, each template strand is paired with a newly synthesized partner strand. DNA replication is catalyzed by enzymes. J ohn Wiley & Sons, Inc. Gene Expression: Using Genetic Information J ohn Wiley & Sons, Inc. Gene Expression During transcription, an RNA molecule is synthesized from a DNA template. This messenger RNA (mRNA) molecules contains the information needed to synthesize a polypeptide. During translation, the triplet codons in the RNA specify the incorporation of particular amino acids into a polypeptide chain. J ohn Wiley & Sons, Inc. The Proteome Proteomethe collection of all the different proteins in an organism. Humans have between 20,000 and 25,000 genes in the genome and hundreds of thousands of proteins in the proteome. Proteomicsthe study of all the proteins in cells. J ohn Wiley & Sons, Inc. The Central Dogma of Molecular Biology The flow of information is DNA RNAprotein. Some viruses can use RNA as a template for the synthesis of DNA in reverse transcription. Many genes do not encode polypeptides; their end- products are RNA molecules. J ohn Wiley & Sons, Inc. Mutation: Changing Genetic Information J ohn Wiley & Sons, Inc. Key Points When DNA replicates, each strand of a duplex molecule serves as the template for the synthesis of a complementary strand. When genetic information is expressed, one strand of a genes DNA duplex is used as a template for the synthesis of a complementary strand of DNA. For most genes, RNA synthesis (transcription) generates a molecule (the RNA transcript) that becomes a messenger RNA (mRNA). J ohn Wiley & Sons, Inc. Key Points Coded information in an mRNA is translated into a sequence of amino acids in a polypeptide. Mutations can alter the DNA sequence of a gene. The genetic variability created by mutation is the basis for biological evolution. J ohn Wiley & Sons, Inc. Genetics and Evolution Variation in the DNA sequence makes it possible for species to evolve over time. Organisms with similar DNA sequences are descended from a common ancestor. J ohn Wiley & Sons, Inc. A phylogenetic tree A phylogenetic tree, or phylogeny, represents the historical relationships among organisms. J ohn Wiley & Sons, Inc. Key Points Evolution depends on the occurrence, transmission, and spread of mutant genes in groups of organisms. DNA sequence data provide a way of studying the historical process of evolution. J ohn Wiley & Sons, Inc. Levels of Genetic Analysis J ohn Wiley & Sons, Inc. Geneticists approach their science from different points of viewfrom that of a gene, a DNA molecule, or a population of organisms. Classical Genetics Based on analysis of the outcomes of crosses between different strains of organisms. Can be coordinated with studies of the structure and behaviour of chromosomes. Encompasses transmission genetics and studies of the nature of the genetic material J ohn Wiley & Sons, Inc. Molecular Genetics Studies the replication, expression, and mutation of genes at the molecular level. Rooted in the study of DNA sequences and the manipulation of DNA molecules. J ohn Wiley & Sons, Inc. Population Genetics Individuals within a population may carry different alleles of genes. Population genetics is based on analyzing allele frequencies in a population and determining whether these frequencies changes over time. Population genetics includes evolution and the inheritance of complex traits. J ohn Wiley & Sons, Inc. Key Points In classical genetic analysis, genes are studied by following the inheritance of traits in crosses between different strains of an organism. In molecular genetic analysis, genes are studied by isolating, sequencing, and manipulating DNA and by examining the products of gene expression. In population genetic analysis, genes are studied by assessing the variability among individuals in a group of organisms. J ohn Wiley & Sons, Inc. Genetics in the World: Applications of Genetics to Human Endeavors J ohn Wiley & Sons, Inc. Genetics is relevant in many venues outside the research laboratory. Genetics in Agriculture: Selective Breeding J ohn Wiley & Sons, Inc. Genetics in Agriculture: Genetically Modified Organisms Genetically Modified Organisms (GMOs) are have been altered by the introduction of foreign genes. J ohn Wiley & Sons, Inc. Genetics in Medicine Inborn Errors of Metabolism are metabolic abnormalities caused to mutant alleles. Genetic Counselors advise people about inheritance of genetic diseases. Molecular genetics new ways to detect mutant alleles. new ways to treat diseases. J ohn Wiley & Sons, Inc. Genetics in Society Economic impactbiotechnology industry, pharmaceutical industry. Legal impactpaternity testing, forensics, identification Philosophical impact J ohn Wiley & Sons, Inc. Key Points Discoveries in genetics are changing procedures and practices in agriculture and medicine. Advances in genetics are raising ethical, legal, political, social, and philosophical questions. 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Tesis doctoral de Bryan Keith Holland - “Discovery of mature microRNA sequences within the protein-coding regions of global HIV-1 genomes - Predictions of novel mechanisms for viral infection and pathogenicity”