Saturday, April 9, 2016

Sonic Hedgehog and the Fight for Gene Names

While most of the terminology accumulated in science classes seems mundane, there is a school of gene naming that leans toward unique, funny and intriguing names for genes. Dr. Chris Doe, a biology professor at the University of Oregon shared some of the interesting names genes have been given, including his Shakespearean favorites, "Prospero" and "Miranda". While Dr. Doe named fruit fly genes that he discovered after characters from "The Tempest", other scientists choose names for genes to be cute, dark or downright silly. Some examples of interesting gene names include; "lunatic fringe", "smurf", "tribbles", "one-eyed pinhead" and "head case". Silly names given to genes may help lighten the mood in the lab, however not all scientists agree that these names are appropriate.

Dr. Sue Povey does not agree that many of the unique named attributed to new genes are appropriate, especially in the medical setting. Dr. Povey currently heads the genome nomenclature committee of the Human Genome Organization and is tasked with renaming genes that may be offensive. One gene in question was the "sonic hedgehog" gene. While the name is clearly pointing to a popular video game, the effects of mutations in this gene can be seen across many species, including humans. In humans, mutations in the "sonic hedgehog" gene can lead to severe birth defects that may result in the death of affected infants. Among the birth defects is holoprosencephaly, a brain related birth defect that ranges from mild symptoms to extreme deformities such as cyclopia. Prior to reading this article, I had no previous knowledge of the existence of cyclopia, which is "an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye". I was interested to learn in this birth defect, however it served as a shocking reminder of the severity of certain birth defects and how silly names such as "sonic hedgehog" lose their humor when human lives, especially those of children are involved. 

Dr. Povey explains that doctors can avoid offending patients by slight alterations to the gene name. While the Human Genome Organization changes the gene name, it utilizes the original name to craft the new one. "Sonic hedgehog", for example, is commonly referred to as the SHH gene. While it sounds like someone is being hushed, I guess this gene name is less silly that "sonic hedgehog". Overall, the name change aids in making the gene seem more 'scientific' with a 'science-y' name in the medical field.

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