Poster Abstracts | Published:

Physical mapping and functional annotation of 60,000 human genes

The recent release of the first draft of the human genome provides an unprecedented opportunity to integrate all human genes and their functions within a complete positional context. However, at least four significant technical hurdles remain: to create a complete and nonredundant human transcript index, to assemble the still-fragmented human genome draft, to place the individual transcript indices accurately on the human genome and to annotate all human genes functionally. We report the extension of the UniGene database through the assembly of its sequence clusters into nonredundant sequence contigs. The resulting consensus was aligned to the draft genome. We determined a unique location for each transcript within the human genome by the integration of the restriction fingerprint, assembled genomic contig and radiation hybrid maps. We mapped a total of 59,557 UniGene clusters on the basis of at least two independent criteria, compared with the 30,000 human genes mapped in Genemap '99. The extension of the human transcript consensus in this study enabled a grater number of putative functional assignments than the 12,700 annotated entries in UniGene. This study reports a first attempt at mapping and annotating a majority of the human transcript into the human genome draft. This information can be immediately applied to the discovery of new genes and the identification of candidate genes that either directly cause or increase our susceptibility to neoplastic diseases.

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