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Rename That Gene: 'Sonic Hedgehog' Sounded Funny, at First


Science & Tech  (tags: )

Blue
- 4030 days ago - nytimes.com
"Lunatic fringe," "head case" and "one-eyed pinhead" might sound like insults from the schoolyard, but they are actually names that scientists have given to genes.



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Blue Bunting (855)
Sunday November 12, 2006, 5:09 pm
By JOHN SCHWARTZ
“Lunatic fringe,” “head case” and “one-eyed pinhead” might sound like insults from the schoolyard or talk radio. But these are actually examples of the kind of oddball names that scientists give to genes they discover.

The idea is to make the names unique and memorable — with so many genes being discovered and described, a little color helps scientists tell them apart. But the trouble comes when science is transmuted into medicine; what works in the lab may be jarring in the clinic.

The names are causing problems for doctors who have to counsel patients about genetic defects with names like “sonic hedgehog” and “mothers against decapentaplegia.”

“It’s a serious problem,” said Dr. Sue Povey, a professor of biology at University College London, and head of the genome nomenclature committee of the Human Genome Organization. Her group is renaming some of the most objectionable names, in some cases by requiring that they be referred to by their initials, to render them inoffensive. The move was first reported by the journal Nature.

Dr. Chris Doe, a professor of biology at the University of Oregon who specializes in the genetics of the fruit fly, or drosophila, noted that evolution is conservative: a gene that works in one creature is likely to be found in others, and so a version of a gene discovered in the fruit fly or zebra fish may well be found in humans.

Many of those genes were given weird names when first discovered. Scientists have come up with names for genes in fruit flies, for example, that may be mystifying (“faint sausage,” “fear of intimacy”), cute (“tribbles,” “groucho” and “smurf”), or macabre (“sex lethal” and “death executioner Bcl-2.”)

Dr. Doe said that while he considers himself a fan of colorful gene names — and gives his own discoveries the names like Prospero and Miranda, from Shakespeare’s “Tempest” — he recognizes the potential danger.

A gene with a funny name may be linked to a medical condition that can be heartbreaking. The human variant of the fruit fly’s “hedgehog” gene, known as “sonic hedgehog” after the video-game character, has been linked to a condition known as Holoprosencephaly, which can result in severe brain, skull and facial defects.

“It’s a cute name when you have stupid flies and you call it a ‘turnip,’ ” Dr. Doe said. “When it’s linked to development in humans, it’s not so cute any more.”

Dr. Povey said that a doctor with a good bedside manner could get around the problems caused by whimsical or offensive gene names by explaining the history and function of the names to patients. But, she said, it is simpler to make a change that avoids the rocky situation altogether.

Still, she added, she has run into some resistance from the genes’ discoverers.

“People get to be very, very fond of the names of things they’ve discovered,” she said. “They don’t like somebody who doesn’t know much about it telling them what to call it.”

 
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