11 August 2015

Genes with humor

Geneticists joke too

Elena Veshnyakovskaya, Igor Shandarin, "Science and Life" No. 4-2014
Published on the website "Elements of Science" 

And what can they do if scientific work is becoming more and more like any other production these days? Thanks to the development of sequencing technology (DNA sequence decoding), scientists have already discovered almost all genes, but questions remain. Knowing the nucleotide sequence of a gene is not the same as understanding its function. Special computer programs are able to build an informative structural model of a protein synthesized from a particular gene, but it is not always enough to understand what role this protein plays in the body. Another way is to "break" the protein under study and see what happens. To this end, geneticists create mutant animals in which changes have been made to the gene sequence that disable it.

A small bonus for the researcher is the opportunity to name the gene he found or the mutation found in it. According to the established practice, the name of the gene can be given any, except obscene, but a good tone requires that it reflects its function as much as possible.

Which leads to the appearance, for example, of such genes as...

"Tinman" (Tinman). In the fairy tale "The Wizard of Oz", the girl Ellie, carried away by a hurricane to a magical land, meets unusual helpers there, including an Iron Woodcutter suffering from the fact that he "has no heart". The tinman gene is responsible for the development of the heart in drosophila: the introduction of mutations into it leads to the death of transgenic fruit flies, since their heart does not develop.

"Ken and Barbie" (Ken and Barbie). These dolls have everything like people: head, arms, and legs – but still something is missing. Flies with a defect in the ken and barbie gene do not form external genitalia, both in males and females: they do not develop completely and remain inside the body. There are no analogues in the human genome, which pleases.

"Supersonic hedgehog" (sonic hedgehog). SHH, sonic hedgehog, is a gene encoding one of the three proteins of the hedgehog family ("hedgehogs"), named after the hero of the popular video game Sonic the Hedgehog, released in the 1990s. (Strictly speaking, sonic hedgehog is a "hedgehog with the speed of sound", but in the translation of domestic gamers it has become supersonic.) The sonic hedgehog gene, which plays a key role in mammalian organogenesis, was first found in the same drosophila. The product of the gene, among other things, affects how the body of the fruit fly will be segmented. In drosophila embryos, in which this gene is turned off, small spikes form all over the body.

"Cheap date" (cheap date). What is a cheap date? This is when a man who is too lazy to look after and charm, tries to go the easy way and get the girl drunk "up to standard" as soon as possible. The ideal partner for such a gentleman is a female fruit fly with a mutation in the cheapdate gene: she has an increased susceptibility to alcohol.

"Cleopatra and the Snake" (Cleopatra and Asp). As you know, Shakespeare's Cleopatra committed suicide by "self-biting" a poisonous snake. If the mutant Cleopatra protein in the fruit fly embryo interacts with the protein encoded by the Asp gene, then the outcome will be fatal.

"Hamlet" (Hamlet). This gene owes its name to Hamlet's question "To be or not to be?", in the original – "To be or not to be?". In drosophila, the hamlet gene affects the development of cells involved in the formation of muscle tissue and called IIB, or, for any reader who understands English, "tu bi".

"Amontillado" (amontillado). And again literature. In the "Gothic" story by Edgar Poe called "The Barrel of Amontillado", the hero immured his unsuspecting offender alive in the wall. In flies, the amontillado gene is responsible, in particular, for the production of enzymes necessary for the hatching of larvae: if it is suppressed, the larva will most likely remain "immured" in its egg. In addition, the mutation of the amontillado gene reduces the larvae' ability to behave in order to hatch (shaking their heads, working with their jaws).

"Ariadne" (Ariadne). Theseus survived in the labyrinth of the Minotaur thanks to Ariadne in love with him. She gave the hero a thread twisted into a ball, along which he was able to return to the exit from the maze. When neurons are formed in the embryonic phase of flies, then with a mutation in the ariadne gene, they cannot "reach axons" to the targets that should be innervated during the branching process.

"Swiss cheese" (swiss cheese). The brain is not just neurons, its structure is formed by many other types of cells, in particular glial cells. A myelin sheath is formed from the membranes of glial cells around neuronal processes – axons. This is a structure that allows you to significantly speed up the transmission of a signal from axon to axon. The protein encoded by the swiss cheese gene regulates the activity of glial cells: in flies with a mutation in this gene, glial cells wrap axons too "diligently", which leads to the death of neurons. As a result, voids – holes appear in the brain of the mutant fly, like in Swiss cheese.

Superman, Clark Kent and Kryptonite. There is no need to explain who Superman is. Clark Kent is his name when he lives among people, artfully portraying a clumsy and unsuccessful journalist. Well, kryptonite is a fantastic substance that deprives Superman of strength, which is what the "bad guys" are trying to use.

Gene mutations can be not only associated with changes in the sequence of nucleotide groups in DNA, but also epigenetic, when the sequence of nucleotides in DNA is preserved, but the degree of its torsion changes, for example, which also affects its functioning. The SUPERMAN gene owes its name to epimutations. It is found in the plant Arabidopsis thaliana (almost as popular an object of genetic research as drosophila), where it regulates the ratio of stamens and carpels in the flower. The plant has several alleles of the SUPERMAN gene – various forms of the gene located in the same sections of homologous chromosomes. When epimutation occurs in one of the alleles, the plant has almost twice as many stamens compared to the non-mutant one. This allele is called "superman". With epimutation, there will also be more stamens in another allele than in a wild plant, but significantly less than in the first case, for which this allele is called clark kent. If the DNA sequence of the SUPERMAN gene is exposed to one of the methyltransferase enzymes (responsible for attaching methyl groups to nucleotide residues), then the degree of twist of the helix will change and the effects of the gene will be suppressed. This enzyme was logically called kryptonite.

It is possible that the jokes of biologists who call the genes they have discovered without any respect will soon come to an end. In 2006, the serious organization HUGO (Human Genome Organization) declared war on them. The fact is that many of the genes bearing, by the grace of their "godparents", funny and frivolous names are found not only in unrequited flies, fish and plants, but also in humans, and mutations in them are associated with serious human diseases. A playful name can hurt the feelings of such patients and their loved ones, according to experts from HUGO.

The gene whose mutation is associated with a lack of a sense of humor has not yet been discovered.

P.S. The Proofreading Department warns.
According to established practice and contrary to the dictionary norm, biologists are allowed to use the word allele in the masculine gender. But no one else! According to the rules of the Russian language, the allele is "she".

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11.08.2015
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