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What is functional genomics? What is comparative genomics? How does it relate to functional genomics?
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Why is model organism research important? Why do we care what diseases mice get? How closely related are mice and humans? How many genes are the same? What are knockout mice? Why are mice used in this research? What genomes have been sequenced completely? What are the comparative genome sizes of humans and other organisms being studied? More Information

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What is functional genomics?

Understanding the function of genes and other parts of the Ethical, Legal, genome is known as functional genomics. The Human Social Issues Genome Project was just the first step in understanding Home Privacy Legislation humans at the molecular level. Though the project is Gene Testing complete, many questions still remain unanswered, Patenting including the function of most of the estimated 30,000 Forensics
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Researchers have learned a great deal about the function of human genes by examining their counterparts in simpler model organisms such as the mouse. One of the most widely used is BLAST. proteins. yeast Saccharomyces cerevisiae. and laboratory . an online guide for learning about genes. Model organisms offer a costeffective way to follow the inheritance of genes (that are very similar to human genes) through many generations in a relatively short time. the length and number of coding regions (called exons) within genes. roundworm Caenorhabditis elegans. BLAST is a set of programs designed to perform similarity searches on all available sequence data. gene location.or the role of noncoding regions and repeats in the genome. Some model organisms studied in the HGP were the bacterium Escherichia coli. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes and noncoding regions of the genome. Comparative genomics involves the use of computer programs that can line up multiple genomes and look for regions of similarity among them. see the tutorial Sequence similarity searching using NCBI BLAST available through Gene Gateway. and genetic disorders. fruit fly Drosophila melanogaster. Research Home Sequencing Instrumentation Mapping Bioinformatics Functional Genomics ELSI Research Recent Abstracts US. Some of these sequencesimilarity tools are accessible to the public over the Internet. the amount of noncoding DNA in each genome. Education Teachers Careers Students Webcasts Audio/Video Images Videos Chromosome Poster Presentations Genetics 101 Genética Websites en Español What is comparative genomics? How does it relate to functional genomics? Comparative genomics is the analysis and comparison of genomes from different species. For instructions on how to use BLAST. Genetics Genetics in Courtroom human genes. Genome researchers look at many different features when comparing genomes: sequence similarity.Food Behavioral Genetics Minorities. Your Choices List of All Publications Search This Site Why is model organism research important? Why do we care what diseases mice get? Contact Us Privacy Statement Site Stats and Credits Functional genomics research is conducted using model organisms such as mice. and highly conserved regions maintained in organisms as simple as bacteria and as complex as humans. Research Sites Funding Publications Human Genome News Chromosome Poster Primer Molecular Genetics To Know Ourselves Your Genes. Race. which is available from the National Center for Biotechnology Information.Intl. Researchers also don't know the role of single nucleotide polymorphisms (SNPs) --single DNA base changes within the genome-.

I know of only a few cases in which no mouse counterpart can be found for a particular human gene. Mice and humans (indeed. monkeys. How closely related are mice and humans? How many genes are the same? Answer provided by Lisa Stubbs of Lawrence Livermore National Laboratory.mouse. For more information see HGN 11 (1-2) "Public. HGN 8 (1) "Third Branch of Life Confirmed". most or all mammals including dogs. these novel genes may play an important role in determining species-specific traits and functions. What really matters is that subtle changes accumulated in each of . mice may have active duplicates that humans do not possess. many duplicated genes remain active and over time may change enough to perform a new function. Private Sectors Join in Mouse Consortium". and HGN 7 (3-4) "Microbial Genomes Sequenced". Livermore. sometimes the duplicated copies degenerate to the point where they no longer are capable of encoding a protein. we are very similar to mice. and for the most part we see essentially a one-to-one correspondence between genes in the two species. and vice versa. However. Gene duplication occurs frequently in complex genomes. Since gene duplication is an ongoing process. won't be significantly larger than 1% of the total.about 3 billion base pairs. and apes) have roughly the same number of nucleotides in their genomes -. However. The exceptions generally appear to be of a particular type --genes that arise when an existing sequence is duplicated. Nevertheless. rabbits. I believe the number of human genes without a clear mouse counterpart. HGP spinoffs have led to genetic analysis of other environmentally and industrially important organisms in the United States and abroad. These appear to make up a small percentage of the total genes. California. Additionally. and indeed our work and the work of many others have provided evidence to confirm that notion. the most significant differences between mice and humans are not in the number of genes each carries but in the structure of genes and the activities of their protein products. cats. and vice versa. This comparable DNA content implies that all mammals contain more or less the same number of genes. Gene for gene.

these events do not always occur in an identical way in the two species. A single nucleotide difference can alter protein function in such a way that it causes a terrible tissue malfunction. Single nucleotide changes have been linked to hereditary differences in height. would introduce changes that could substantially alter what the protein does. cystic fibrosis. Put these alterations in the context of known inherited human diseases: a single nucleotide change can lead to inheritance of sickle cell disease. brain development. and a mouse's tail can disappear completely. Some nucleotide changes are “neutral” and do not yield a significantly altered protein. Evolutionary changes are the same as these sequence differences that are linked to person-toperson variation: many of the average 15% nucleotide . quite a few genes probably are not common to humans and apes. In addition. gorillas. subtle distinctions are multiplied by the more than 30. Single-nucleotide changes in the same genes but in different positions in the coding sequence might do nothing harmful at all. Thus.000 estimated genes. Others. A gene can produce more or less protein in different cells at various times in response to developmental or environmental cues. (Just as in the mouse. due to single nucleotide changes. genes and proteins interact in complex ways that multiply the functions of each. and orangutans) actually should be put another way. there is more than 95% to 98% similarity between related genes in humans and apes in general. but probably only a relatively small percentage. a gene can produce more than one protein product through alternative splicing or post-translational modification.000 genes add together to make quite different organisms. facial structure. Further. while others are nearly unrecognizable as close relatives). pigmentation. and many proteins can express disparate functions in various biological contexts. and these may influence uniquely human or ape traits. The often-quoted statement that we share over 98% of our genes with apes (chimpanzees.. or breast cancer. That is. hands can develop structures that look like toes instead of fingers.g.the approximately 30.) Similarities between mouse and human genes range from about 70% to 90%. with an average of 85% similarity but a lot of variation from gene to gene (e. some mouse and human gene products are almost identical. and many other striking morphological differences.

Subsequent offspring will inherit not only the instructions coded by their original mouse genome. When researchers isolate human genes with unknown functions. some lead to subtle changes. but also the traits coded for by the inserted human DNA. the . are inexpensive and easy to handle. morphological. the bacterium Escherichia coli. Add them all together. and can be genetically manipulated at the molecular level. and they can make quite an impact. numerous other genomes have been sequenced. the worm Caenorhabditis elegans. researchers are able to reproduce and express actual human genes and their corresponding proteins in mice. These include the mouse Mus musculus. Why are mice used in this research? Mice are genetically very similar to humans. What genomes have been sequenced completely? In addition to the human genome. This helps researchers understand health and disease by observing how genes work in cells. They also reproduce rapidly. have short life spans. Using this technology. they can create knockout mice with these genes and observe the results. These mice are then bred --creating a population of offspring with the trait. and behavioral differences we see among organisms. the fruitfly Drosophila melanogaster. Knockout mice have many benefits. Instead of creating merely the mouse equivalent of the human gene. whereas others are associated with dramatic differences. What are knockout mice? How will they help us determine human gene function? Knockout mice are transgenic mice whose genetic code has been altered by the insertion of foreign genetic material into their DNA. researchers target specific genes --causing them to be expressed or inactivated. but they also aid scientists in testing new drugs and devising novel therapies.changes that distinguish humans and mouse genes are neutral. They not only allow researchers to determine gene function and understand diseases at the molecular level. as evidenced by the huge range of metabolic.

and several microbes. the plant Arabidopsis thaliana.yeast Saccharomyces cerevisiae. Entrez Genome -.A tool that allows the researcher to access all of the bacterial genome sequences completed to date.Genomes Online Database provides comprehensive access to information regarding complete and ongoing genome projects around the world. Comprehensive Microbial Resource -. From The Institute for Genomic Research (TIGR). For a complete listing see A Quick Guide to Sequenced Genomes from the Genome News Network. Other resources for information on sequenced genomes: • GOLD -. • • What are the comparative genome sizes of humans and other organisms being studied? .A resource from the National Center for Biotechnology Information (NCBI) for accessing information about completed and in-progress genomes.

500 10 Caenorhabdit 97 million is elegans bases (roundworm) Saccharomyc 12 million es cerevisiae bases (yeast) Escherichia coli (bacteria) H. Genome size does not correlate with evolutionary status.organism estimate averag chromosom estimate d e gene e d size gene density number number 2900 million bases 2.000 bases 13.000 100.000 1 gene per 100.600 1 gene per 9.7 million bases 1. influenzae (bacteria) 4.000 42 1 gene per ~30.100 12 6300 32 3200 1 1700 1 *Information extracted from genome publication papers below.750 million bases 2500 million bases 180 million bases 125 million bases ~30. .000 bases 46 Homo sapiens (human) Rattus norvegicus (rat) Mus musculus (mouse) Drosophila melanogaster (fruit fly) Arabidopsis thaliana (plant) ~30.000 bases 1 gene per 100.000 bases 1 gene per 4000 bases 1 gene per 5000 bases 1 gene per 2000 bases 1 gene per 1400 bases 1 gene per 1000 bases 40 8 25.8 million bases 19.

H. (25 October 1996) 274: 546. elegans Sequencing Consortium.Genome sequence of the nematode C. (11 December 1998) 282: 2012-8. et al. (14 December 2000) Roundworm . Goffeau. 409: 860-921. Nature. Yeast A. Nature 408: 796-815. coli F. et al. Genome Sequence of the Brown Norway Rat Yields Insights into Mammalian Evolution.First Plant Sequenced The Arabidopsis Genome Initiative. Bacteria . (5 December 2002) [Full Text] Fruit Fly M. D. R. 428: 493-521. Adams. (24 March 2000) 287: 2185-95. influenzae . (1 April 2004) [Full Text Mouse Mouse Genome Sequencing Consortium. Science.First Mutlicellular Eukaryote Sequenced The C.nor is the number of genes proportionate with genome size. Genome Publication Papers Human International Human Genome Sequencing Consortium. (15 February 2001) [ Full Text] Rat Rat Genome Sequencing Project Consortium. Initial sequencing and comparative analysis of the mouse genome. Arabidopsis . Science. Nature. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana. 277: 1453-1474. Blattner. The genome sequence of Drosophila melanogaster. Science. elegans: A platform for investigating biology. et al. Initial sequencing and analysis of the human genome. 420: 520 -562. The complete genome sequence of Escherichia coli K-12.E. Nature.First Free-living Organism . Life with 6000 genes. (5 September 1997) Bacteria . Science. 563-7.

Department of Energy researchers developing and exploiting new technologies as a means for discovering and characterizing the basic principles and relationships underlying living systems. Science.Links to genetic and genomic information organized by organism. Microbial Genome Program . • • • • • • Homo sapiens Genome View (human) Mus musculus Genome View (mouse) Drosophila melanogaster Genome View (fruit fly) Arabidopsis thaliana Genome View (plant) Caenorhabditis elegans Genome View (roundworm) Saccharomyces cerevisiae Genome View (baker's yeast) More Information Related Web Sites • Functional and Comparative Genomics Research .More technical information Of mice and men (36k GIF) on HGP involvement with comparative and functional genomics.S.to be Sequenced R. (28 July 1995) 269: 496-512. et al. DOE Joint Genome Institute . Virtual Library of Genetics . Department of Energy program to study the genetic material of microbes that may be useful in helping DOE fulfill its missions.S. Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. For a step-by-step tutorial on how to use NCBI MapViwer to view the human genome see Finding a gene on a chromosome map. • • • . NCBI Entrez Genomes Browse the genomes of model organisms with MapViewer and other genome resources from the National Center for Biotechnology Information (NCBI).U. D. Fleischmann.Consortium of U.

Learn about mouse genetics and the statistics behind the inheritance of red eyes • . Interactive Mouse Genetics from Explore Learning . • • • • • • Other Resources • Genomics: The Human Genome and Beyond . From the Genome News Network.Illustrated index of organisms that have had their genomes sequenced. Model Organisms for Biomedical Research Information on model organisms from the National Institutes of Health. Functional Genomics Articles from Human Genome News Functional Genomics: Technological Challenges and Opportunities .Gateway to functional genomics sources from Science. Monitors. • • • • Articles • Comparative Genomics: The Mouse That Roared Article from the December 5. Functional Genomics . Ecce homology: A primer on comparative genomics From Modern Drug Discovery.Article from the ORNL Review (1999). issue of Nature. and Medicine . Why You Can Read This — And Why the Chimp Can't-from USA Today (April 14. Of Mice. 2002).Article from the ORNL Review (1999). 2002. 1999). a publication of the American Chemical Society. The Mighty Mouse . Mysteries of Life: From Molecules to Mice .Narrative from To Know Ourselves (1996). Mouse Genome Resources .Gateway to mouse resources in and beyond National Center for Biotechnology Information (NCBI) resources.Article from the Physiological Genomics (July 15.Poster available from the DOE Joint Genome Institute.• A Quick Guide to Sequenced Genomes .

Proteomics. Discovering Genomics. Graphic . From the HGP Image Gallery.gov/hgmis Site sponsored by the U. Human Genome Program . November 18.S.Researcher and mouse. and Bioinformatics by A. 252 pp. Last modified: Friday. Office of Biological and Environmental Research.M. Department of Energy Office of Science.ornl.and black fur. • Graphic . Graphic . Campbell and L. Requires free Shockwave plug-in. Heyer.J. download the free Acrobat Reader software. Cold Spring Harbor Laboratory Press (2003).Mouse-human homology. 2005 Home * Contacts * Disclaimer Base URL: www. Send the url of this page to a friend • • • To read pdf files.Using Mice to Understand Human Gene Function.

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