Comparative Genomics Fact Sheet

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Comparative Genomics

What is comparative genomics?

Comparative genomics is an exciting new field of biological research in which the genome sequences of different species - human, mouse and a wide variety of other organisms from yeast to chimpanzees - are compared.

By comparing the finished reference sequence of the human genome with genomes of other organisms, researchers can identify regions of similarity and difference. This information can help scientists better understand the structure and function of human genes and thereby develop new strategies to combat human disease. Comparative genomics also provides a powerful tool for studying evolutionary changes among organisms, helping to identify genes that are conserved among species, as well as genes that give each organism its unique characteristics.

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What are the benefits of comparative genomics?

Using computer-based analysis to zero in on the genomic features that have been preserved in multiple organisms over millions of years, researchers will be able to pinpoint the signals that control gene function, which in turn should translate into innovative approaches for treating human disease and improving human health.

In addition to its implications for human health and well-being, comparative genomics may benefit the animal world as well. As sequencing technology grows easier and less expensive, it will likely find wide applications in agriculture, biotechnology and zoology as a tool to tease apart the often-subtle differences among animal species. Such efforts might also possibly lead to the rearrangement of our understanding of some branches on the evolutionary tree, as well as point to new strategies for conserving rare and endangered species.

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What is a genome made of?

Although living creatures look and behave in many different ways, all of their genomes consist of DNA, the chemical chain that makes up the genes that code for thousands of different kinds of proteins. Precisely which protein is produced by a given gene is determined by the sequence in which four chemical building blocks - adenine (A), thymine (T), cytosine (C) and guanine (G) - are laid out along DNA's double-helix structure.

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Why is there an increased interest in genomics?

In order for researchers to use an organism's genome most efficiently in comparative studies, data about its DNA must be in large, contiguous segments, anchored to chromosomes and, ideally, fully sequenced. Furthermore, the data needs to be organized to allow easy access for researchers using sophisticated computer software to conduct high-speed analyses.

The successful completion of the Human Genome Project in April 2003 has demonstrated that large-scale sequencing projects can generate high-quality data at a reasonable cost. As a result, the interest in sequencing the genomes of many other organisms has risen dramatically.

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What other genomes have been sequenced?

In addition to sequencing the 3 billion letters in the human genetic instruction book, researchers involved in the Human Genome Project have already sequenced the genomes of a number of important model organisms that are commonly used as surrogates in studying human biology. These are the chimpanzee, the mouse, the rat, two puffer fish, two fruit flies, two sea squirts, two roundworms, baker's yeast and the bacterium Escherichia coli. Currently, sequencing centers supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) are close to completing working drafts of the chicken, the dog, the honey bee, the sea urchin and a set of four fungi. In the summer of 2003, the centers also began sequencing the genome of the rhesus macaque monkey, and many other organisms are in the sequencing pipeline.

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Has the field of comparative genomics yielded any results?

The rapidly emerging field of comparative genomics has already yielded dramatic results. For example, a March 2000 study comparing the fruit fly genome with the human genome discovered that about 60 percent of genes are conserved between fly and human. Or, to put it simply, the two organisms appear to share a core set of genes.

Researchers have found that two-thirds of human genes known to be involved in cancer have counterparts in the fruit fly. Even more surprisingly, when scientists inserted a human gene associated with early-onset Parkinson's disease into fruit flies, they displayed symptoms similar to those seen in humans with the disorder, raising the possibility the tiny insects could serve as a new model for testing therapies aimed at Parkinson's.

More recently, a comparative genomic analysis of six species of yeast prompted scientists to significantly revise their initial catalog of yeast genes and to predict a new set of functional elements thought to play a role in regulating genome activity.

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How is the National Human Genome Research Institute (NHGRI) involved in the growth of this new field of research?

To produce a more comprehensive plan for selecting sequencing targets, NHGRI recently instituted a new process for choosing animals for comparative sequencing. Rather than placing the entire responsibility for advocating for the sequencing of various organisms upon individual researchers, NHGRI has established three working groups comprised of experts from across the research community.

Each working group will develop a plan for sequencing organisms that advances knowledge in one of three scientific areas: understanding the human genome, understanding the genomes of major biomedical model systems and evolutionary biology of genomes. Direct requests from researchers will also continue to be accepted. For more on NHGRI's process for selecting sequencing targets, see The NHGRI Genome Sequencing Program (GSP).

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Last Updated: October 13, 2011