The Human Genome Project and Genomics

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1 Genomic Sequencing is an Extension of Genetic Mapping The Human Genome Project and Genomics Chapter 15! Mutant genes are the basis of genetic disorders! Mapping helps identify genes that cause disease The first step in developing diagnostic tests and treatments for these disorders! Linkage Two or more genes located on the same chromosome that tend to be inherited together Linkage Between Nail-Patella Syndrome and ABO Blood Type Crossing-Over Between Homologous Chromosomes in Meiosis

2 Linked Genes on the Same Chromosome! Crossover frequencies are used to construct genetic maps, giving the order and distance between genes on the chromosome Recombinant DNA Technology Changes Gene-Mapping! Positional cloning mapping and cloning genes with no prior information about the gene product or its function Inheritance of molecular markers is used to follow the inheritance of genetic disorders in pedigrees Some Genes Identified by Positional Cloning Genetic Map of Human Chromosome 1

3 Organisms Included in the Human Genome Project History of the Human Genome Project New Scientific Fields Goals of Genomics! Genomics The study of the organization, function, and evolution of genomes! Bioinformatics The use of software, computational tools, and databases to acquire, store, analyze, and visualize the information from genomics

4 Methods of Sequencing DNA Methods of Sequencing DNA! To sequence a small amount of DNA, DNA bases (A, T, C, G) are tagged with a radioisotope and combined with DNA fragments, which are then separated by size onto a gel with four lanes! To sequence an entire genome, the process is automated; each base is labeled with a different fluorescent dye which can be read in a single lane by a scanner linked to a computer Bioinformatics: Storing and Accessing Genetic Information Genomics: Sequencing, Identifying, and Mapping Genes! Genomes are stored in databases; the human genome contains over 3 billion nucleotides! Geneticists developed two strategies for genome sequencing The government s genome project used the clone-by-clone method The privately-funded Celera genome project used the shotgun method

5 The Clone-by-Clone Method Shotgun Cloning! Clone-by-clone method A method of genome sequencing that begins with genetic and physical maps Uses clones from a genomic library that have been arranged to cover an entire chromosome After the order of clones is known, they are sequenced! Shotgun sequencing A method of genome sequencing that selects clones at random from a genomic library After the clones are sequenced, assembly software organizes them into the genomic sequence Clone-by-Clone and Shotgun Sequencing Completing the Genome! The bacterium Haemophilus influenzae was the first organism to have its genome sequenced! Drafts of the human genome were published in 2001and 2003; neither project sequenced the 15% of the genome in heterochromatic regions Government s Approach Celera s Approach

6 Annotation is Used to Find Where Genes Are! Annotation Analysis of genomic nucleotide sequence data to identify protein-coding genes, non-protein-coding genes, their regulatory sequences and functions Only 5% of human DNA encodes genes How are Genes Identified in a DNA Sequence?! If a DNA sequence encodes a protein, its nucleotide sequence is an open reading frame! Open reading frame (ORF) Codons in a gene that encode the amino acids of the gene product Control sequences (CAAT, CCAAT) at the beginning of genes - promoter; splice sites between exons and introns; terminator sequences Genetic Sequence from Hemoglobin! Splice junctions between introns and exons (blue); site where transcription begins (green) Geneticists Discover Gene Functions and Products! After a gene has been identified by annotation, its amino acid sequence is derived and compared with sequences already in protein databases! So far, functions have been assigned to about 60% of known genes

7 Functional Assignments for the Human Genome What Have We Learned So Far About the Human Genome?! Only about 5% of our 3 billion nucleotides of DNA encode genetic information! Genes are distributed unequally on chromosomes Clusters are separated by gene-poor bands! Humans have 20,000 to 25,000 genes Far fewer than the predicted 80,000 to 100,000 What Have We Learned So Far about the Human Genome? Comparison of Selected Genomes! There are more proteins in the body than genes mrnas are processed in many ways so 20,000 to 25,000 genes can produce 300,000 proteins! Genomes of humans and other higher organisms are similar We share half our genes with the fruit fly and more than 90% with mice

8 Using Genomics and Bioinformatics to Study a Human Genetic Disorder! Where is the gene located?! What is the normal function of the protein encoded by this gene?! How does the mutant gene or protein produce the disease phenotype? Mapping Genes and Gene Function! The cystic fibrosis gene was easy to map, convert to amino-acid sequence, and determine its function, but more than half of identified genes have no known function Proteomics is an Extension of Genomics Role of Proteomics! Proteomics is the study of the structure and function of proteins, which is important in development of new diagnostic tests and drugs! Proteomics Study of expressed proteins in a cell at a specific time under a particular set of circumstances! Understanding gene function and its changing role in development and aging! Identifying proteins that are biomarkers for diseases; used to develop diagnostic tests! Finding proteins for development of drugs to treat diseases and genetic disorders

9 Proteins Expressed in a Cell! Separated by size and electric charge and displayed on a gel Ethical Concerns about Human Genomics! To deal with the impact of genomic information on society, the HGP set up the ELSI (Ethical, Legal, and Social Implications) program to ensure that genetic information would be safeguarded, not used in discriminatory ways! ELSI works to develop policy guidelines for the use of genomic information New Developments Needed in Genomics Genetics in Society: Who Owns Your Genome?! When John Moore had his spleen removed due to a rare form of cancer, his doctor patented a cell line and products derived from the spleen! When Moore sued to share in the profits, the court ruled that patients had no property rights over tissues removed from their bodies

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