How a genuine human gene got named after Sonic the Hedgehog

 Here at Get Animated! Medical, one of our specialities is game-based learning – an effective way of making science education more engaging and memorable. However, you may not know that this isn’t the first time science and video games have been blended together.

Located on chromosome 7 of every human genome is the sonic hedgehog gene. This gene produces the ‘sonic hedgehog’ protein, which plays a variety of important roles in embryonic development. For example, the concentration of the protein in the developing embryonic hand controls the type of finger that grows – high concentrations at one side produces the pinkie finger, while low concentrations on the other side produces the thumb¹.

The importance of this gene (and the severity of its occasional dysfunction) lies at a stark contrast with its bizarre name – the story of which is actually very ordinary.

When genes such as these are faulty, the embryo grows spike-like protrusions in its skin, almost resembling a hedgehog. For this reason, similar genes were named ‘desert hedgehog’ and ‘Indian hedgehog’. By chance, the very day that Dr Robert Riddle discovered a third gene of this type, his wife Betsy came home with a magazine – the back cover of which featured an advertisement for a new Sonic the Hedgehog video game. And from that moment, the name stuck².

What’s more, an inhibitor of the sonic hedgehog protein has been discovered, and named ‘Robotnikinin’, after the video game character’s arch-enemy, Dr Robotnik³.

Although this is merely an amusing anomaly to most, its name has been met with some controversy. One type of mutation in the sonic hedgehog gene is believed to cause a developmental disease known as holoprosencephaly – a condition where the forebrain fails to divide into two hemispheres, the effects of which are rarely compatible with life, and most commonly ends in miscarriage⁴. It has been suggested that for this reason, the name of the gene may be somewhat inappropriate, particularly when discussing the condition with prospective parents⁵.

This hasn’t stopped the trend of peculiar names for biological molecules, however. In 2008, a molecule involved in retinal neurotransmission was named Pikachurin, after ‘Pikachu’ from the Pokémon video game franchise⁶ – presumably as it is involved in the transmission of electrical impulses, and the character Pikachu produces electric shocks from its body.

Other unusually-named genes include the cheap date gene, the mutations of which produce an increased susceptibility to alcohol intoxication⁷; the SPOCK1 gene, the mutations of which produce pointy ears, like the Star Trek character Spock⁸; and the dreadlocks gene, the mutations of which cause cell protrusions to clump together like, you guessed it, dreadlocks⁹. Another interesting one is a gene which is responsible for the appropriate development of the cardiovascular system, which is aptly named the tinman gene¹⁰ after the Wizard of Oz character who wanted nothing more than to acquire a heart.

One thing we value more than anything here at Get Animated! Medical is imagination – and for that reason, these crazily-named genes definitely get our seal of approval!

Chas Smith

References

1. Meštrović, T., 2019. How Do Additional Fingers And Toes Arise?. [online] News-Medical.net. Available at: https://www.news-medical.net/health/How-Do-Additional-Fingers-and-Toes-Arise.aspx
2. com. 1994. A Gene Named Sonic. [online] Available at: https://www.nytimes.com/1994/01/11/science/a-gene-named-sonic.html
3. Stanton, B., Peng, L., Maloof, N., Nakai, K., Wang, X., Duffner, J., Taveras, K., Hyman, J., Lee, S., Koehler, A., Chen, J., Fox, J., Mandinova, A. and Schreiber, S., 2009. A small molecule that binds Hedgehog and blocks its signaling in human cells.Nature Chemical Biology, 5(3), pp.154-156.
4. Chiang, C., Litingtung, Y., Lee, E., Young, K., Corden, J., Westphal, H. and Beachy, P., 1996. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature, 383(6599), pp.407-413.
5. Maclean, K., 2006. Humour of gene names lost in translation to patients. Nature, 439(7074), pp.266-266.
6. Levenstein, S., 2020. Pikachurin, Essential Brain Protein Inspired By Pokemon’s Pikachu. [online] InventorSpot.com. Available at: http://inventorspot.com/articles/lightningfast_vision_protein_named_after_pikachu_16170
7. Moore, M., DeZazzo, J., Luk, A., Tully, T., Singh, C. and Heberlein, U., 1998. Ethanol Intoxication in Drosophila: Genetic and Pharmacological Evidence for Regulation by the cAMP Signaling Pathway. Cell, 93(6), pp.997-1007.
8. Charbonnier, F., Périn, J., Mattei, M., Camuzat, A., Bonnet, F., Gressin, L. and Alliel, P., 1998. Genomic Organization of the Human SPOCK Gene and Its Chromosomal Localization to 5q31.Genomics, 48(3), pp.377-380.
9. Huebner, K., Kastury, K., Druck, T., Salcini, A., Lanfrancone, L., Pelicci, G., Lowenstein, E., Li, W., Park, S., Cannizzaro, L., Pelicci, P. and Schlessinger, J., 1994. Chromosome Locations of Genes Encoding Human Signal Transduction Adapter Proteins, Nck (NCK), Shc (SHC1), and Grb2 (GRB2).Genomics, 22(2), pp.281-287.
10. Fu, Y., Ruiz-Lozano, P. and Evans, S., 1997. A rat homeobox gene, rNKx-2.5 , is a homologue of the tinman gene in Drosophila and is mainly expressed during heart development.Development Genes and Evolution, 207(5), pp.352-358.