Human Chromosome 7

Background

Since the onset of the Human Genome Project, our laboratory has focused on establishing the 'genetic blueprint' of human chromosome 7, a ~170-Mb segment of DNA that corresponds to an estimated 5% of the human genome. This work was initiated in the Human Genome Mapping Center at Washington University School of Medicine (St. Louis) and then transferred to the Intramural Program of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) in 1994.

As with the study of other human chromosomes, this work is being performed in two consecutive phases: comprehensive physical mapping followed by complete genomic sequencing. The shear size and complexity of human chromosomes has necessitated the development and implementation of new approaches for constructing long-range physical maps. In 1991, we proposed a strategy whereby large segments of human DNA could be mapped using yeast artificial chromosomes (YACs) as the source of cloned DNA and sequence-tagged sites (STSs) as the landmarks on which the maps are based. We have employed this approach, called 'YAC-based STS-content mapping,' to construct a highly integrated and annotated physical map of human chromosome 7. Specifically, our goals included the mapping of an STS, on average, every 100 kb (or less) across the chromosome (a programmatic goal of the U.S. Human Genome Project) and the extensive integration of our YAC-based physical map with the cytogenetic, Genethon genetic, radiation hybrid (RH) maps of the chromosome. In addition, we sought to construct a map that virtually covered the entire chromosome, that established a unique order for most of the mapped STSs, and that provided large, contiguous stretches of redundant clone coverage. These goals were largely completed by the end of 1996.

More recently, we have extended our efforts to include the construction of higher resolution clone maps that will be used for sequencing the chromosome. Our collaborators at the Washington University Genome Sequencing Center and the University of Washington Genome Center are actively establishing the sequence of human chromosome 7.

Contained within this Web site are various summaries of the mapping and sequencing of human chromosome 7 being performed by investigators at NHGRI and our collaborators. This information includes details about:

Comments, suggestions and problems to bioinformatics@nhgri.nih.gov

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