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What do the names Sonic Hedgehog, Gremlin and BAMBI mean to you? Sega’s speedy blue hedgehog, a goblin-like creature from the 1980s, and a Disney deer who tragically lost his mother? Although to most these are fictional characters, to the molecular biologist they are all genes that play a role in embryonic development and can be linked to diseases. These quirky names can help brighten up the day and gain attention when describing research in the pub, but they are not so great when trying to search for relevant information online or, on a more serious note, when telling patients that they are responsible for their disease. So how did these genes get such unusual names? And is this a common phenomenon?
A gene is defined as “a DNA segment that contributes to phenotype/function”. Humans have around 20,000 different genes, the humble fruit fly (Drosophila melanogaster) has more than 14,000 genes, and even cress (Arabidopsis thaliana) has over 25,000 genes. Every gene needs a name, and current guidelines for naming human genes state they should be “brief and specific and should convey the character or function of the gene”. This is reflected in names such as p53, which produces a 53kDa protein, and GATA3, which produces a protein that binds to the DNA sequence GATA. Other genes have long descriptive names that are then shortened to shorter acronyms, for example BAMBI (BMP and Activin Membrane-Bound Inhibitor), ARSE (ARylSulphatase E) and POKEMON (POZ and Krüppel erythroid myeloid ontogenic factor).
A lot of genes were originally identified in different animals. It was assumed that if an animal didn’t develop properly it must have an alteration (mutation) in a developmental gene. If you could locate the change and you could identify the gene. Genes identified in this way tend to be named after the specific characteristics seen in these animals. This has led to lots of imaginatively named genes, based on both physical appearance and characteristics. Here’s a selection of some of the more unusual ones and how they got their names:
Sonic hedgehog: in flies changes in this gene caused the surface to be covered in small pointy projections similar to spines. Two similar genes exist, Desert hedgehog and Indian hedgehog. Also worth a mention is that the zebrafish equivalent of this gene used to be called Tiggywinkle hedgehog after the character from Beatrix Potter books.
Gremlin: alterations in the action of this gene in different animals cause deformed limbs and webbing.
Cheapdate: loss of this gene resulted in easily drunk flies.
Cappuccino: alterations of in this gene in mice can cause albinism. Related genes include cocoa and mocha.
Dickkopf: overexpression of this gene in frogs resulted in embryos with large heads (from the German dick=thick and kopf=head).
Sprouty: changes of this gene in flies caused excessive branching in the trachea
Spock: zebrafish with alterations in this gene developed pointy ears, reminiscent of the famous Vulcan.
Van-Gogh: modifications of this gene led to small ears in zebrafish, whereas in fruit flies, it created a wing pattern similar to Van Gogh’s Starry Night.