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Scientists seek ways to simplify name game

BAR HARBOR, Maine - Scientists may have found a solution to an identity crisis in genetics that threatens to hinder the search for disease-causing genes.

It involves the helter-skelter approach used to name genes, the basic units of heredity.

Thousands of genes have multiple names; identical genes have different names; totally unrelated genes have identical names; the same gene may have different names in different animals, and names often are unrelated to a gene's structure or function.

As a result, scientists often can't associate related genes with one another in computer databases. Much 21st century genetic research will be done not in test tubes but in these collections of data about the location and biology of genes in organisms ranging from bacteria to humans.

“The genetic nomenclature problem has made it very difficult to do certain kinds of research, “ Dr. Carol Bult of the Jackson Laboratory here said.

Dr. Bult's research group helped to establish an organization that has sidestepped turf battles over gene names. Instead of forcing scientists to give up their often-whimsical names for genes, the group is developing “controlled vocabularies” that can describe a gene in unmistakable terms.

Using those terms, scientists who identify a disease-causing gene in one animal can search through computer databases and pinpoint the gene's counterpart in other animals, including humans. The system works even though a gene may have multiple aliases in each of the animals.

Called the Gene Ontology Consortium, the organization is restoring order to the confused nomenclature that has set genetics apart from other sciences. Nomenclature is the giving of official names.

An ironclad rule of science dictates that every object should have one unique, official name used worldwide.

Each of the 10 million chemicals known to science has one official name. No two stars in the sky have the same name. Granite is granite whether found in Ohio or China.

Years ago, however, that rule fell by the wayside in genetics, as scientists rushed to name thousands of newly discovered genes in living things ranging from fruit flies to humans.

“Some fields of science are very thoughtful and name in a logical way,” said Harvard University's Mark C. Fishman, who studies genes involved the formation of the heart.

“But not ours. The scientist who discovers a new gene picks the name. The only real rules are that the name not be obscene, and not duplicate an existing name.”

The result has been hundreds of tongue-in-cheek gene names like “sonic hedgehog,” “spatzle,” “lost-in-space,” “gridlock,” “stuck,” “forkhead,” and “ether-a-go-go.”

Even worse, a gene can have multiple aliases. One June study of 22,000 human genes found that 10,352 genes have more than one name. One gene, “selectin L,” has 15 aliases.

A major problem, Dr. Bult said, is that the same gene does the same thing in fruit flies, mice, and other research animals, but often has a different name in each animal.

Scientists are compiling information about the complete sets of genes - the “genomes” - of many organisms, including mice and humans. Scientists who identify a gene that causes obesity in mice, or increases the lifespan of fruit flies, want to search databases of genetic information for similar genes in humans.

Drs. Bult and Fishman spoke at a genetics conference sponsored here by the Jackson Laboratory and Johns Hopkins University.

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