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Our laboratory maps and sequences eukaryotic genomes and develops approaches that use the resulting data to study biological problems. During the past decade, our efforts focused on human chromosome 7, a ~170-Mb chromosome that contains ~5 percent of the human genome. We constructed two physical maps of chromosome 7, the first with larger yeast artificial chromosome (YAC) clones, the second with smaller, bacterial artificial chromosome (BAC) clones. The Genome Sequencing Centers at Washington University [genome.wustl.edu] and the University of Washington [genome.washington.edu] then sequenced the mapped BACs to produce a complete sequence of human chromosome 7. We are currently mapping and sequencing genomic regions orthologous to human chromosome 7 in mouse and multiple other vertebrate species in close collaboration with the NIH Intramural Sequencing Center (NISC) [nisc.nih.gov]. Comparative mapping and sequencing data will provide a more detailed understanding of gene function and regulation as well as insight into genome organization and evolution.
We are also interested in identifying and characterizing genes associated with human disease, especially those residing on human chromosome 7. To date, we have identified or are working towards the identification of genes associated with hereditary deafness (Pendred syndrome), cancer, neurological disease, mental disorders and vascular disease. With further study, including the generation of mouse models of these disorders, we hope to elucidate the function of the proteins these genes encode and define the pathological mechanisms of the causative mutations. We find that the availability of genome mapping and sequencing data accelerates the process of elucidating the genetic basis of human disease.
Last Reviewed: October 2004
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Other Genome Technology Branch Investigators
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Andy Baxevanis, Ph.D.
Robert W. Blakesley, Ph.D.
Gerard Bouffard, Ph.D.<
Lawrence C. Brody, Ph.D.
Shawn Burgess, Ph.D.
Settara C. Chandrasekharappa, Ph.D.
Francis S. Collins, M.D., Ph.D.
James C. Mullikin, Ph.D.
Tyra Wolfsberg, Ph.D.
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