Richard, Rochelle, Zohal, Angie The Age of Genomics Richard, Rochelle, Zohal, Angie

Genomics Geneticist H. Winkler created the term genome by mixing the words gene and chromosome It is a term that describes the complete set of chromosomes and all the genes Genomics is the study of genomes. It came about in 1986, credited to T.H. Roderick

Positional Cloning Technique using a single gene Examine a particular trait Compare with genes of affected relatives Restriction Fragment Length Polymorphisms (RFLPs) or sequence variations are compared Sequencing went from one trait to the entire genome

Human Genome Project Main Goals Identify all the genes in human DNA Determine the sequences of the chemical base pairs that make up the human DNA

History of the Human Genome Project Proposed in 1985 After many debates it finally starts in 1990 Completed in 2003 Human Genome Project updates

Huntington’s Disease Discovered through HGP HD Gene was found on Chromosome 4 Death comes in 10-15 years of diagnosis

Deriving a DNA Sequence

Two Routes to the Human Genome Sequence

DNA Sequencing Sequencing: Shotgunned into smaller fragments using restriction enzymes Assembly: Alignment of DNA fragments is accomplished through recognizing sequence overlaps. Annotation: Computer software searches evidence to locate a particular protein encoding gene; Other databases helps to search for similarities for the current analyzed DNA to identify its gene functions Gene expression profiles and proteomics: End result, the DNA microarrays creates expression profiles

DNA Sequencing Separating the Sequencing Products: Electrophoresis is a sequencing process in which DNA can be separated The sequencing machine creates an electric field; then DNA moves through gel that acts like a sieve. Smaller DNA goes through the porous gel faster than larger DNA Reading the Sequencing Products: As DNA fragments drops through the ends of the test tube, laser reads through the fluorescent dye Computer will store and record each drops of fluorescent dye into its database.

Comparative Genetics Comparative Genetics is the framework to explain biodiversity and the evolutionary events that underlie it. The first genomes that were sequenced were microbial then they were followed by mice, rats, and chimps, but the most importantly sequenced genomes were the ones which were at evolutionary crossroads. Meaning those that introduced a new trait or were the last to have an old one.

Pictogram Comparing the DNA nucleotide base sequences of genomes and their regions help us to better understand their evolution. A pictogram indicates management of sequences. When using a pictogram genomes from different species can be compared with one another. The large letters mean that all four species have the same base at that site and if four letters appear on the same column then the species are different.

Comparative Genomics Overall, comparative genomics is understanding species and their connection with evolution. Each species is compared to another and its evolutionary status, which then researchers can obtain more information and maybe find conclusions about the species. The main goal is to obtain a genetic barcode for all species so they can be easily identified and understood. Examples of genomes which are organized according to increasing evolutionary closeness to humans.

Into the Future The future of genetics is a broad and eclectic field. The study of the human genome is giving rise to many different aspects of our lives. Developing new medicines that work with individuals Finding and possibly curing diseases Tracing history and populations to find our roots Developing better agriculture products The sky is the limit Some applications of human genome information

The Future of Genomics Zymogenetics Seattle Genetics Seattle has 2 genetic research labs working on DNA sequencing to help with the development of therapeutic drugs among other projects. Zymogenetics Seattle Genetics

Resources OMIM, Online Mendelian Inheritance in Man Retrieved March 3, 2008 from http://www.ncbi.nlm.nih.gov/Omim/mimstats.html Online Education Kit: Understanding the Human Genome Project National Human Genome Research Institute retrieved March 3, 2008 from http://www.genome.gov/25019885 About the Human Genome Project Human Genome Project Information Retrieved March 3, 2008 from http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml Zymogenetics Retrieved March 4, 2008 from http://www.zymogenetics.com