Saturday, December 1, 2012

Mohawk. Sonic hedgehog. Lunatic fringe. Mothers against decapentaplegia. Believe it or not, these are all names of genes.

Drosophila melanogaster is a fruit fly that has been extensively used as a model organism for genetic analysis. Researchers who find new genes are given the privilege to name their discovery. Some are named based on the resultant phenotype if the gene is mutated, such as Tinm
an; based on the character from The Wizard of Oz. A fly that is a mutant for Tinman will not develop a heart.

In 1980, a mutation was discovered that developed many points on the drosophila larvae, reminiscent of a hedgehog. Three homologues were later identified: Desert, Indian (both species of hedgehog), and Sonic, based off of Sega’s video game character. An inhibitor of Sonic hedgehog was named Robotnikinin; an homage to Dr. Robotnik, Sonic’s nemesis in the game.

The scientists who give genes unorthodox names do so to make the gene stand out, to make it easy to remember, or even just to break up the monotony of working in the lab every day. It all seemed frivolously harmless, until the same genes were found in humans.

Suddenly, doctors were forced to tell parents that conditions such as their child’s diprosopus - as seen in the picture - are due to a mutant Sonic hedgehog. The black arrow in the middle is pointing to a third orbital cavity, and the two white arrows point to two separate nasal cavities. Many people were understandably upset that such extreme craniofacial patterning defects were associated with a joke name.

For clinical sensitivity, research scientists are no longer allowed to use silly names for human genes. The offensive names are known by their abbreviations, such as Sonic hedgehog (SHH), lunatic fringe (LFNG), and mohawk (MKX).

For more information: http://www.gersteinlab.org/proj/funnygene/

Photo credit: radiology.rsna.org
Mohawk. Sonic hedgehog. Lunatic fringe. Mothers against decapentaplegia. Believe it or not, these are all names of genes. 

Drosophila melanogaster is a fruit fly that has been extensively used as a model organism for genetic analysis. Researchers who find new genes are given the privilege to name their discovery. Some are named based on the resultant phenotype if the gene is mutated, such as Tinman; based on the character from The Wizard of Oz. A fly that is a mutant for Tinman will not develop a heart. 

In 1980, a mutation was discovered that developed many points on the drosophila larvae, reminiscent of a hedgehog. Three homologues were later identified: Desert, Indian (both species of hedgehog), and Sonic, based off of Sega’s video game character. An inhibitor of Sonic hedgehog was named Robotnikinin; an homage to Dr. Robotnik, Sonic’s nemesis in the game.

The scientists who give genes unorthodox names do so to make the gene stand out, to make it easy to remember, or even just to break up the monotony of working in the lab every day. It all seemed frivolously harmless, until the same genes were found in humans. 

Suddenly, doctors were forced to tell parents that conditions such as their child’s diprosopus - as seen in the picture - are due to a mutant Sonic hedgehog. The black arrow in the middle is pointing to a third orbital cavity, and the two white arrows point to two separate nasal cavities. Many people were understandably upset that such extreme craniofacial patterning defects were associated with a joke name. 

For clinical sensitivity, research scientists are no longer allowed to use silly names for human genes. The offensive names are known by their abbreviations, such as Sonic hedgehog (SHH), lunatic fringe (LFNG), and mohawk (MKX).

For more information: http://www.gersteinlab.org/proj/funnygene/

Photo credit: radiology.rsna.org

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