Navigating the human transcriptome

The potential coding capacity of the human genome is currently a topic of great interest. The number of genes predicted from the recent human-genome analysis was at the lower end of previous estimates, which had ranged between about 30,000 and 120,000 (1, 2). Whereas estimates of gene number are likely to increase based on additional experimental evidence and improved gene-finding algorithms, it is clear that gene number is only one mechanism for creating the genetic diversity required to encode the full complement of human proteins. The scientific literature richly describes the presence and functional significance of alternatively processed forms of human transcripts that are derived from different transcription initiation sites, alternative exon splicing, and multiple polyadenylation sites (3–5). Determining the various transcript forms and investigating the purpose of these complex mixtures of instructions will be the next great endeavor toward understanding human biology.

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