The roundworm Caenorhabditis elegans is one of the workhorses of biological research. The 1mm long nematode, often found in compost heaps and rotting fruit, has been the model organism for a large body work in developmental and molecular biology since 1974. Nobel prizes were awarded in 2002, 2006 and 2008 for work done using C. elegans.
When it’s genome was sequenced in 1998 (a first for a multi-cellular organism), it was found to have around 20,000 protein-coding genes, only slightly fewer than the human genome. The naming of these genes adheres to strict guidelines: three or four letters, a hyphen and a number. In contrast, the HUGO Gene Nomenclature Committee, the body responsible for approving human gene names, allows much more latitude for descriptive names. But the most fun is had by scientists studying the fruit fly Drosophila melanogaster where it seems that just about anything goes.
Scott of the Antarctic
The Drosophila gene greatwall is so named because is plays a role in protecting the structure of chromosomes (large, tightly coiled strands of DNA). This is not a bad name, but I prefer the original. The protein encoded by the gene was originally thought to be involved in spindle formation. Spindles are structures within a cell that ensure that when the cell divides, each daughter cell has half of the DNA present in the original cell. Spindles form poles to which each half of the DNA travels. The original name for greatwall was Scott of the Antarctic after the British explorer whose expedition reached the South pole in 1912.
The human sonic hedgehog gene encodes a protein that plays a critical role in development, contributing to the organisation of various body parts such as the limbs and central nervous system. It is related to two other human hedgehog genes, desert hedgehog and Indian hedgehog. The first hedgehog gene was discovered in Drosophila. Mutations in the fruit fly gene resulted in a short, stubby fly covered in spines, resembling a hedgehog.
The vertebrate homologue was named after the Sega video game character Sonic the Hedgehog in order to distinguish it from the Drosophila gene. The zebrafish has two hedgehog genes, originally named tiggywinkle hedgehog (after the Beatrix Potter character Mrs Tiggy-winkle) and echidna hedgehog. In 2009, an inhibitor of sonic hedgehog was discovered and named robotnikinin after Sonic the Hedgehog’s arch enemy, Dr Robotnik.
The problem with frivolous gene names is that they are often not very informative. A gene involved in the onset of puberty in mice (a human homologue was later found) was named Harry Potter. The connection between the gene’s function and the boy wizard is not overly clear. Mice with a mutated Harry Potter gene fail to undergo puberty and have small genitalia, which doesn’t seem to match up to any of the events in the books that I recall. The name was soon replaced with the much more mundane G-protein coupled receptor 54, or GPR54. Later, the name was replaced again, this time with the more interesting and puberty-related KISS1R. (The origin of this name is another story in itself. KISS1R stands for KiSS-1 receptor, the molecule that binds KiSS-1. KiSS-1 was named in 1996, combining the acronym Suppressor Sequence (KiSS-1 is a suppressor of cancer cell migration) with a reference to the town where the discovering laboratory was based – Hershey, Pennsylvania, home to the Hershey’s Company, producer of the chocolate, Hershey’s Kiss).
Some other examples of unusual gene names:
cheap date, lush: involved in sensitivity to alcohol.
ken, barbie: male and female variants cause a lack of external genitalia.
tinman: mutations cause failure of heart development.