Human Genes: How Many?

Counting human genes ought to be straightforward. Tracking telltale signs--motifs for promoters, translation start sites, splice sites, CpG islands--gene counters must by now be mopping up, finalizing chromosomal locations of every human gene already known, and predicting whereabouts of all the rest. Insert one human genome sequence, turn the bioinformatics crank, and genes gush out like a slot machine jackpot, right? "No, no, no," says Bo Yuan, of Ohio State University, having a laugh over th

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"No, no, no," says Bo Yuan, of Ohio State University, having a laugh over the idea that computation is all you need to tally genes. To the contrary, states the director of the bioinformatics group in the division of Human Cancer Genetics at Ohio State, trawling for genes is so labor-intensive that several years may pass before researchers possess a highly accurate count.

Many were surprised earlier this year when published drafts of the human genome chopped tens of thousands of genes off the long-held notion that making a human might require about 100,000 genes. The International Human Genome Sequencing Consortium found evidence for 29,691 human transcripts.1 The commercial genome project of Celera Genomics, of Rockville, Md., found 39,114 genes.2 Now, just months later, those estimates have been revised, effectively doubled: Yuan and his colleagues suggest humans possess between 65,000 and 75,000 genes.3 Graphic Courtesy of Graham Tyrrell, University of ...

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