The main genes – 2017

Alexey Aleksenko, "Snob"

It is customary to publish different ratings for the New Year. In our popular science section, we could make a rating of the smartest scientists or the most obscurantist speeches of Russian academics like this.

From the VM editorial board:

From the website of the Russian Academy of Sciences, this disgrace was promptly removed, and in Runet it was possible to find only his resume on the forum of medical students:

A few days ago, corresponding member of the Russian Academy of Sciences Epstein and experts of the Ministry of Health announced the great benefits of homeopathy. However, they used the term "release activity".

The day before yesterday, another scientist uncovered himself homeopathically. A whole academician of the Russian Academy of Sciences, Dr. Konovalov, has already declared the great effectiveness of homeopathy.

And not anywhere, but right on the official main website of the Russian Academy of Sciences. Think about it, this is no longer some kind of wound with Petrik and Kadyrov. This is the Russian Academy of Sciences, the same true academy in Russia.

But we decided to leave aside the human factor and focus on nature as such. Therefore, we offer you a rating of the most popular genes.

About genes, first we need to explain something. When your humble servant was sitting on a student's bench, it was considered that a person has a great many genes: a hundred thousand, maybe a million. When the human genome was deciphered in the early 2000s, it turned out that there were actually only twenty thousand genes there. Nature turned out to be much more economical than everyone thought.

And yet twenty thousand genes is a hell of a lot of genes. The best way to make a popular article about genetics completely unreadable and inexpressibly boring is to stuff into it as many gene names as possible, like DFNA5, CNTNAP2 or TAS2R16. And it's useless to explain later that all this is terribly important, because because of the first gene, the baby can be born deaf, the second is somehow related to autism, and the third is generally one of dozens of bitter taste receptors in your mouth. The reader's attention will be hopelessly distracted by a dull series of capitalized Latin letters and numbers.

No geneticist, even the craziest, remembers the names of all the genes. But it is impossible not to remember some of them, because they are very often flashed in various important scientific articles. Peter Kerpeggiev, a programmer, and now also a graduate student at Harvard Medical School, a few years ago became interested in the question of which genes flash in the media more often than others and therefore become celebrities. In December, the journal Nature published a rating compiled by him. Let's get acquainted with the top five winners.

5th place: AOE

Old-timers remember how in the 1970s every housewife knew the word "cholesterol" – this simple molecule was considered almost the key to health and longevity. Part of the glory went to a protein named apolipoprotein E, which is able to bind and remove this very cholesterol, and at the same time the gene that encodes it. It was even going to be used for the prevention of cardiovascular diseases, but then pharmacology invented statins, and they forgot about our protein. And in 1993, neuroscientist Allen Roses showed that apolipoprotein also knows how to bind to plaques in the brains of patients suffering from Alzheimer's disease. Moreover, one of the mutations in the AOE gene dramatically increases the risk of losing your sanity in old age. It was here that everyone began to study (and write about it) – and they continue to this day.

4th place: VEGFA

This gene – or rather, what it encodes – is necessary for the growth and regeneration of blood vessels. The evasive expression "what it encodes" is appropriate here because this gene encodes not one, but as many as four different proteins. They are obtained as a result of, as they say, "alternative splicing": the text read from the gene is then cut and edited in various ways, so that four different texts and four different vascular endothelial regeneration factors are obtained, working in different tissues and at different stages of our life. Such a fascinating gene just couldn't help but become famous.

3rd place: EGFR

The full Russian name of this thing is "epidermal growth factor receptor gene", and it is enough for a superficial reader to know that it has to do with cancer. A more thoughtful reader may find it curious that, depending on which form of this gene is present in your genome, your tumor (if, God forbid, it suddenly arises) will react differently to different types of chemotherapy.

2nd place: TNF

The name of this gene stands for "tumor necrosis factor", and it was discovered this way: in the 1970s, American biologists transplanted cancer tumors into healthy mice. However, the mouse body quickly and effectively dealt with these tumors, and the TNF protein was responsible for rejection. Meanwhile, another group of scientists discovered the same protein, and then another one – and everyone gave it different names. Biologists could not believe that a substance that manifests itself in such different situations could be the same protein. We talked about this hero in some detail here in the article "Double-dealing as an exact science", so we will no longer praise the tumor necrosis factor. Let's just say that according to modern ideas, this is a key element of the inflammatory process, and all the initial confusion was caused by the fact that the behavior of this protein strongly depends on which cells of the immune system produce it. Today, TNF is seen as the key to understanding autoimmune diseases; it is being researched and written about a lot.

And finally...

Absolute Leader: TR53

We have already mentioned cancer tumors several times here, we would like to mention them less often. Researchers in the 1970s noticed that mutated genes were often found in tumors (they were called "oncogenes"). The picture was as follows: a mutation in some gene violates the system of cellular self-control, the cell begins to grow and divide, that's the tumor for you. And so the TR53 gene turned out to be mutated in half of the studied tumors: that's really oncogene for all oncogenes!

And then it turned out that he was not an oncogene. In fact, the p53 protein – the product of the gene in question – is much more important. He does not spoil the subtle cellular settings, but on the contrary, stands guard over cellular health. Formally, his profession is called a "transcription activator": under certain circumstances, he is able to bind to special sites at the beginning of different genes and start their work. The question is, what are these circumstances and what are these genes. So: p53 comes into play when a cell forgets its duty, breaks out of submission to the body and is about to turn into a nasty tumor. And the genes that p53 triggers are a program of immediate growth arrest and, as a rule, cellular suicide. Those 50% of cancers in which the TR53 gene mutated were formed because the suicide program was not started. This means that this small and important protein reduces the incidence of cancer by at least half (but in fact much more).

To unravel all the chains of events that p53 manages means, in essence, to understand the nature of cancer and find ways to defeat it. That's why biologists study TP53 with such diligence, that's why it got to the very top of our rating.

Stars of former years

The most interesting part of Peter Kerpeggiev's work is to trace how the gene rating changed as science developed. It turned out that it reflects the most important stages in the development of biology, and even humanity. For example, by 1980, when only a handful of human genes were described (and named), the hemoglobin gene ruled the charts: it was mentioned in every 30th work on genetics, that is (relatively) four times more often than the current favorite TR53.

The leader was replaced in 1986, and the reason for this was not a happy one: the spread of HIV in developed countries. Scientists threw all their efforts in this direction and could not help but pay attention to the CD4 gene. It encodes a protein on the surface of T-lymphocytes, which plays a key role in infection.

In the mid-1990s, a rare event happened: a gene, important not only for applied medical research, but also for fundamental science, was in the lead. A whole new field of biology has emerged that studies "signal transduction" – ways for a cell to receive information about what is happening in the external environment. An important gene for this area was called – and is still called – GRB2. And in the 2000s, our current hero TR53 first appeared in the leaders. Only one year ahead of him was another current star, and then biologists just agreed with Allen Roses that this gene plays a key role in the development of Alzheimer's disease.

The fact that the leader has not changed for so long – for as long as 16 years, suggests sad thoughts about the slowdown in progress and about the millions of cancer patients who have died over the past decade and a half. Here we can only nod sadly and remind that man last set foot on the moon 45 years ago. Yes, progress is uneven. Let's hope that he is about to rush forward, and the scientific landscape will change dramatically.

Non-human stars

Of course, the most interesting thing for us is to find out more about human genes: after all, they are in every cell of every reader. But genes that have nothing to do with a person often break through to the heights of fame, and sometimes for rather curious reasons. Here, for example: back in the 1990s, biologists tried to make genetically modified mice by stuffing other people's genes into different parts of their genome. One of the mouse lines was called ROSA26 – an alien gene was incredibly active in it, and in all cells of the mouse body without exception. Apparently, someone else's gene got into some extremely important and active region of the genome, working in any tissues. What this area is, what its function is in a normal wild mouse, no one really knows until now. But they named this mysterious gene ROSA26, and mention it in almost all works on mouse genetics. In total, in the overall standings, ROSA26 is second only to human TR53: the scientific work where it is mentioned is published somewhere in the world on average once a day.

Another favorite from the animal world is a tribute to the glorious history of genetics. When Thomas Morgan (does everyone remember "Weismanism-Morganism"?) he decided to study fruit fly mutations, the first of his mutants was a fly with white eyes. Since then, the white gene has been used in many experiments as an external genetic marker (do not ask what it is, but it is impossible to set up a genetic experiment without it). As a result, the humble gene of a particularly useless fly entered the top ten most popular genes of all terrestrial creatures, including humans.

This concludes our ceremony. Our goal was not only to amuse the reader (as mentioned above, there is nothing particularly funny in the names of genes, on the contrary, they are capable of spoiling any holiday). I wanted to hint that the history of science is cool. And we are all so lucky that we have witnessed the most fascinating – to date, and maybe in the whole history – of its stage. With this, too, you can congratulate us all, except for the usual "Happy New Year".

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