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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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Food Behavioral Genetics Minorities. Some of these sequencesimilarity tools are accessible to the public over the Internet. the length and number of coding regions (called exons) within genes. roundworm Caenorhabditis elegans. Genome researchers look at many different features when comparing genomes: sequence similarity. Some model organisms studied in the HGP were the bacterium Escherichia coli. and laboratory . One of the most widely used is BLAST. 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. fruit fly Drosophila melanogaster. Comparative genomics involves the use of computer programs that can line up multiple genomes and look for regions of similarity among them. BLAST is a set of programs designed to perform similarity searches on all available sequence data. Genetics Genetics in Courtroom human genes. the amount of noncoding DNA in each genome. yeast Saccharomyces cerevisiae. Researchers have learned a great deal about the function of human genes by examining their counterparts in simpler model organisms such as the mouse. and highly conserved regions maintained in organisms as simple as bacteria and as complex as humans. 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. which is available from the National Center for Biotechnology Information. an online guide for learning about genes. Research Sites Funding Publications Human Genome News Chromosome Poster Primer Molecular Genetics To Know Ourselves Your Genes. Race.Intl. gene location. For instructions on how to use BLAST.or the role of noncoding regions and repeats in the genome. 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. and genetic disorders. proteins. see the tutorial Sequence similarity searching using NCBI BLAST available through Gene Gateway. Research Home Sequencing Instrumentation Mapping Bioinformatics Functional Genomics ELSI Research Recent Abstracts US. 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. Researchers also don't know the role of single nucleotide polymorphisms (SNPs) --single DNA base changes within the genome-.

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

hands can develop structures that look like toes instead of fingers. and many other striking morphological differences. Further. Single-nucleotide changes in the same genes but in different positions in the coding sequence might do nothing harmful at all. Others. would introduce changes that could substantially alter what the protein does. these events do not always occur in an identical way in the two species. Evolutionary changes are the same as these sequence differences that are linked to person-toperson variation: many of the average 15% nucleotide . Thus. A gene can produce more or less protein in different cells at various times in response to developmental or environmental cues. quite a few genes probably are not common to humans and apes. brain development. due to single nucleotide changes. some mouse and human gene products are almost identical.the approximately 30. gorillas. cystic fibrosis. but probably only a relatively small percentage. Some nucleotide changes are “neutral” and do not yield a significantly altered protein. (Just as in the mouse.. A single nucleotide difference can alter protein function in such a way that it causes a terrible tissue malfunction. or breast cancer. with an average of 85% similarity but a lot of variation from gene to gene (e.g.) Similarities between mouse and human genes range from about 70% to 90%. pigmentation.000 genes add together to make quite different organisms. there is more than 95% to 98% similarity between related genes in humans and apes in general. a gene can produce more than one protein product through alternative splicing or post-translational modification. In addition. and these may influence uniquely human or ape traits. while others are nearly unrecognizable as close relatives). genes and proteins interact in complex ways that multiply the functions of each. and a mouse's tail can disappear completely. facial structure. subtle distinctions are multiplied by the more than 30.000 estimated genes. and many proteins can express disparate functions in various biological contexts. and orangutans) actually should be put another way. Single nucleotide changes have been linked to hereditary differences in height. That is. Put these alterations in the context of known inherited human diseases: a single nucleotide change can lead to inheritance of sickle cell disease. The often-quoted statement that we share over 98% of our genes with apes (chimpanzees.

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

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

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.100 12 6300 32 3200 1 1700 1 *Information extracted from genome publication papers below.000 bases 1 gene per 100.000 1 gene per 100.000 100.7 million bases 1.organism estimate averag chromosom estimate d e gene e d size gene density number number 2900 million bases 2.000 bases 46 Homo sapiens (human) Rattus norvegicus (rat) Mus musculus (mouse) Drosophila melanogaster (fruit fly) Arabidopsis thaliana (plant) ~30.000 bases 1 gene per 4000 bases 1 gene per 5000 bases 1 gene per 2000 bases 1 gene per 1400 bases 1 gene per 1000 bases 40 8 25.600 1 gene per 9. .8 million bases 19.000 bases 13. influenzae (bacteria) 4.000 42 1 gene per ~30.750 million bases 2500 million bases 180 million bases 125 million bases ~30.

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

DOE Joint Genome Institute . (28 July 1995) 269: 496-512. D.More technical information Of mice and men (36k GIF) on HGP involvement with comparative and functional genomics. Virtual Library of Genetics .Consortium of U. Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. • • • • • • 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 . NCBI Entrez Genomes Browse the genomes of model organisms with MapViewer and other genome resources from the National Center for Biotechnology Information (NCBI). • • • . Department of Energy researchers developing and exploiting new technologies as a means for discovering and characterizing the basic principles and relationships underlying living systems. et al.to be Sequenced R. Microbial Genome Program . Department of Energy program to study the genetic material of microbes that may be useful in helping DOE fulfill its missions. 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.Links to genetic and genomic information organized by organism.U.S. Science. Fleischmann.S.

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

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

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