What's in a Gene Name?

If you thought the hard work of sequencing the human genome was complete, think again.

Carol Reeves(creeves@the-scientist.com)
Feb 27, 2005
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Joelle Bolt

If you thought the hard work of sequencing the human genome was complete, think again. Just ask Human Genome Organization nomenclature committee (HGNC) chair Sue Povey, of London's Galton Institute Laboratory. "The major effort of our group is now an attempt to make the human genome data more human-friendly!" exclaims Povey on her Web site.1

Take, for example, the Down syndrome critical region (DSCR) genes in a region on chromosome 21 that has long been assumed to be critical for that disease's phenotype. A recent study by Roger Reeves and colleagues at the Johns Hopkins School of Medicine demonstrated that some of those genes are neither critical nor necessary for most of the structural features of Down syndrome.2 Those genes, the focus of many scientific papers, are now known to have names that have nothing to do with their real, as yet unknown, functions. The HGNC,...