Chapter 24 introduce to genomics, proteomics, and bioinformatics. We will begin this chapter with an examination of functional genomics. Then we will consider a quest that is even more complex than genomics: proteomics, the study of an organism’s proteome-the properties and activities of all the proteins an organism makes in its lifetime. Finally, we will introduce bioinformatics, the discipline concerned with managing and using the vast stores of data that come from genomic, proteomic, and other massive biological studies. | Molecular Biology Fourth Edition Chapter 24 Genomics, Proteomics, and Bioinformatics Lecture PowerPoint to accompany Robert F. Weaver Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Positional Cloning Positional cloning is a method for discovery of genes involved in genetic traits Positional cloning was very difficult in the absence of genomic information Begins with mapping studies to pin down the location of the gene of interest to a relatively small region of DNA 24- Classical Tools of Positional Cloning Mapping depends on a set of landmarks to which gene position can be related Restriction Fragment Length Polymorphisms (RFLP) are landmarks with lengths of restriction fragments given by a specific enzyme vary from one individual to another Exon Traps use a special vector to help clone exons only CpG Islands are DNA regions containing unmethylated CpG sequences 24- Detecting RFLPs 24- Exon Trapping 24- Identifying the | Molecular Biology Fourth Edition Chapter 24 Genomics, Proteomics, and Bioinformatics Lecture PowerPoint to accompany Robert F. Weaver Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Positional Cloning Positional cloning is a method for discovery of genes involved in genetic traits Positional cloning was very difficult in the absence of genomic information Begins with mapping studies to pin down the location of the gene of interest to a relatively small region of DNA 24- Classical Tools of Positional Cloning Mapping depends on a set of landmarks to which gene position can be related Restriction Fragment Length Polymorphisms (RFLP) are landmarks with lengths of restriction fragments given by a specific enzyme vary from one individual to another Exon Traps use a special vector to help clone exons only CpG Islands are DNA regions containing unmethylated CpG sequences 24- Detecting RFLPs 24- Exon Trapping 24- Identifying the Gene Mutated in a Human Disease Using RFLps, geneticists mapped the Huntington disease gene (HD) to a region near the end of chromosome 4 Used an exon trap to identify the gene itself Mutation causing the disease is an expansion of a CAG repeat from the normal range of 11-34 copies to abnormal range of at least 38 copies Extra repeats cause extra Glu inserted into huntingtin, product of the HD gene 24- Sequencing Genomes What information can be gleaned from genome sequence? Location of exact coding regions for all the genes Spatial relationships among all the genes and exact distances between them How is coding region recognized? Contains an ORF long enough to code for a phage protein ORF must Start with ATG triplet End with stop codon Phage or bacterial ORF is the same as a gene’s coding region 24- Phage X174 Genome First genome sequenced was a very simple one, phage X174 Completed by Sanger in 1977 5375-nt complete Note that some of these phage genes overlap 24- .
