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Gene-rich human Chromosome 19 sequence completed

Walnut Creek, CA--The United States Department of Energy (DOE) Joint Genome Institute (JGI) and Stanford University report today the completion of the sequencing of human chromosome 19, the most gene-rich of all the human chromosomes. This achievement is described in the April 1, 2004 edition of the journal Nature.

Culminating 18 years of research, this partnership exemplifies DOEs commitment to advancing our understanding of the complex interplay between our human health and the environment, said Energy Secretary Spencer Abraham, whose agency funded the work through its Office of Science.

Embedded in this sequence information are critical regulatory networks of genes tasked with controlling such functions as repairing DNA damage caused by exposure to radiation and to other environmental pollutants. Studies of DNA-repair genes, initiated at the DOE National Laboratories, are yielding insights into the development of certain cancers, many of which appear to be caused by defects in DNA-repair pathways. Also, new insights are being gleaned about other gene families implicated in detoxifying and excreting chemicals foreign to the body.

With this high-quality sequence now made freely available to the scientific community, more light will be shed on individual responses to medicines, Abraham said. This will enable the development of more sensitive diagnostics for susceptibility to a wide array of important diseases. In time, with this information in hand, physicians will be able to tailor more effective individualized therapeutic strategies.

Chromosome 19, at 55.8 million bases or letters of genetic code, although representing only about 2% of the human genome, features nearly 1,500 genes. They include genes that code for such diseases as insulin-dependent diabetes, myotonic dystrophy, migraines, and familial hypercholesterolemia (an inherited form of elevated blood cholesterol), which increases the risk of cardiovascular disease. Beyond the sig
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Contact: David Gilbert
gilbert21@llnl.gov
925-296-5643
DOE/Joint Genome Institute
31-Mar-2004


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