Gena

Main article: Genetics

Genes - regions of DNA

The gene is a structural and functional unit of heredity of living organisms. The gene is a region defining the DNA sequence of a particular amino acid compound. Genes determine the hereditary traits of organisms passed from parents to offspring when they reproduce.

Microarray containing DNA fragments corresponding to certain genes or fragments thereof with known mutations

Are there genes responsible for hard work or perseverance?

Yes, there is such a hereditary component of variability, and it is quite large. This gene under a slightly different name is in the "big five" according to the generally accepted classification of human temperament.

Five complex characteristics are distinguished, and all of them have high heritability: extraversion, neuroticism, benevolence, openness to experience, and what interests us is conscientiousness.

Hard work is 40-60 percent determined by genes, and the other half - by differences in environment, culture, upbringing. This is a very high degree of heritability, and it can have a significant impact on a person's personality.

Genetic code

2025: Russian scientist Alan Herbert proposed his theory of the origin of the genetic code

Alan Herbert, scientific consultant at the HSE International Bioinformatics Laboratory, proposed an explanation for one of the unresolved mysteries of biology - the origin of the genetic code. According to a study published in the journal Biology Letters, modern genetic code may have originated from self-organizing molecular complexes -- tinkers. The author put forward this hypothesis based on the analysis of secondary DNA structures using the AlphaFold3 neural network. This was announced on March 28, 2025 by the press service of the Higher School of Economics.

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Фото: Herbert Alan 2025

As reported, the genetic code is the "alphabet" underlying the functioning of any living system on Earth. It determines what is written in the "instructions" for the body and how it should be read. The modern genetic code consists of codons, each of which has three nucleotides. These triplets encode amino acids, which are then involved in the synthesis of proteins. Scientists have been studying the genetic code for more than 70 years, but one of the most important questions - how exactly it arose - has not received an unambiguous answer.

Professor Alan Herbert, scientific consultant at the HSE International Bioinformatics Laboratory, proposed another explanation for the origin of the code. In his opinion, during evolution, flypons played a key role in the formation of the modern genetic code - special areas of DNA that can form secondary structures.

The classical DNA molecule, described in its time by Francis Crick and James Watson, is a double helix twisted to the right. But scientists have found that there are also alternative DNA structures: Z-DNA twisted to the left; three-chain and four-chain sequences; as well as DNA with a cruciform structure - i-motifs. These unusual structures arise under certain physiological conditions, and their type depends on the set and order of nucleotides in the flipon itself. The simplest flypons are formed from simple nucleotide repeats, so it is assumed that they were enough in the so-called primary broth.

Using the AlphaFold3 neural network from DeepMind, Alan Herbert analyzed the nature of the connections between flipons and amino acids.

It turned out that flypons formed from two-letter repeats bind very well to simple peptides consisting of two-letter amino acid repeats. And it is this correspondence that is present in the modern genetic code. commented Maria Poptsova, Head of the International Laboratory of Bioinformatics at the Higher School of Economics

For example, the cytosine-guanine repeat of CGCGCG forms Z-DNA. The peptide binds very well to this sequence with the arginine-alanine repeat of RARARA. In the modern code, arginine corresponds to the CGC codon, and alanine corresponds to GCG. If we consider in detail the structure of spatial interactions, then the best connection is obtained precisely from disjoint triplets: CGCGCG binds to RA.

In the publication, Alan Herbert looks at dozens of examples of the interaction of flipons from short repeats with peptides from amino acid repeats. It has been found that reactions leading to mutual chain elongation can also occur, especially in the presence of magnesium and zinc. These metals serve as catalysts for such reactions.

According to the author of the study, such complexes were once formed thanks to special components - tinkers, the so-called artisan of nature, as Francois Jacob called them. In the work of Professor Herbert, structures consisting of flipons and peptides serve as such self-replicating artisans. Tinkers used DNA as a template for protein synthesis, and proteins in turn contributed to the elongation of the DNA helix. As a result, a triplet non-overlapping code arose: an odd number of bases allows you to encode sequences from different amino acids, and the nature of the connections between flipons and amino acids requires that each codon corresponds to only one amino acid.

The role of flipons as tinkers in initial biological evolution is a different view of the origin of life. Without exaggeration, we can say that if the theory is confirmed experimentally, our colleague Dr. Herbert deserves the Nobel Prize. The discovery of interactions of flipons with amino acids according to the table of the modern genetic code proves that the emergence of the genetic code is not an accident, but a natural result of evolution. Nature does not invent anything from scratch, it comes up with new mechanisms from what is available. Nature acts as a negligent artisan who, when it is necessary to quickly do something working, not necessarily reliable and durable, grabs what will turn up to hand. It is this property that is behind the concept of 'tinker'. told Maria Poptsova, Head of the International Laboratory of Bioinformatics, Higher School of Economics

In general, the proposed scheme does not require DNA, RNA or the peptide world to explain the origin of life. Instead, the tinkers described are agents that contribute to this capability. They arise from a simple correspondence between low-complexity nucleotides and simple peptide polymers, using metals to catalyze their initial replication. Supplying prebiotic soup with copies of themselves, these tinkers quite naturally developed a non-overlapping, triplet genetic code. writes Alan Herbert in his paper

In addition to understanding the origin of life, the study of tinkers can lead to the creation of new technologies, including artificial self-organizing systems and self-healing materials. The ability of tinkers to combine different chemical elements can be used for the directed evolution of new biomolecules.

MAD1L1 - responsible for proper cell division

2022: Woman with damaged MAD1L1 suffers cancer five times and survives

Doctors in Spain faced an extraordinary case in 2022: a 36-year-old patient was repeatedly diagnosed with malignant tumors in different parts of the body, but each time they disappeared on their own. Now they managed to reveal the secret of her incredible health, which turned out to be surprisingly sinister, because this woman should not have been born at all.

No other person would survive such a number of tumors of different types in different parts of the body: even if the body or doctors managed to cope, say, with carcinoma, sarcoma would probably finish off a weakened body. However, this incredible woman survived all the adversity that fell on her and, despite a number of congenital pathologies like microcephaly, lives a relatively normal life.

To understand where the patient has such incredible resistance to, to cancer researchers from the National Cancer Research Center () Spain studied a sample blood taken from a woman, seeking to detect "breakdowns" there in genes most often associated with hereditary cancer.

Surprisingly, they did not reveal such, but they found something more interesting: a mutation in the MAD1L1 gene, which in our body is responsible for the correct division of cells. In the event of a "breakdown" of this gene, aneuploid cells appear that contain the "wrong" number of chromosomes. In particular, the patient in almost a third of all blood cells of chromosomes was not 46, as in ordinary people, but on the chromosome less or more.

Like almost any other gene, MAD1L1 is represented in our body by two copies, one of which came from the father, the second from the mother. In animal models, scientists have found that the "breakdown" of two copies of genes at once leads to the death of the body at the embryo stage. However, a completely alive woman sat in front of them, who mutated both genes MAD1L1, "giving" her both a terrible vulnerability and amazing resistance to malignant tumors.

Researchers suggest that constantly colliding with cells with the wrong number of chromosomes, the woman's body was always in a state of "full combat readiness," so the appearance of another "wrong" cell - cancer - led to a super-aggressive immune reaction, which destroyed the nascent tumor.

Although the experience of an amazing patient is hardly useful to other people who are doing well with at least one gene of MAD1L1, the fact that the chronically active immune system is able to destroy cells with an abnormal number of chromosomes is an important discovery that could lead to new ways to treat cancer. Since aneuploidy is characteristic of cancer cells, in the future scientists will be able to develop a way to "set" the patient's immunity on them so that the body itself copes with a dangerous disease.