Under Arabic (Arabic speaking) implied philosophy, created by the Arabs, as well as the peoples of the Near and Middle East, who were under the cultural and often political influence of the Arabs.

Arab medieval philosophy went through two main stages in its development:

VII-IX centuries - the period of the birth of Arab philosophy;

IX-XV centuries - the period of assimilation of ancient Greek philosophy by Arab philosophy, the transformation of Arab philosophy into Arab-Greek philosophy.

The main directions of Arab philosophy during its inception were:

Mutakallim school;

Mu'tazilite school;

Mutakallims were supporters of radical Islam. Representatives of the Mutakallim school philosophically substantiated the religious dogmas of Islam and actually played the role of Arab-Islamic scholastics.

Mu'tazilites("set apart") were also Islamic philosophers, but a number of provisions of their teaching were of a relatively materialistic nature. In particular, the Mu'tazilites:

rejected many of the dogmas (unprovable “original” truths) of Islam about
the origin of the world, man, the predetermination of fate and torture
tried to explain the problems from the positions of rationalism and materialism;

rejected anthropomorphic ideas about God (according to which
God had human form);

identified God and the Universe;

believed in the strength and intelligence of man;

believed that a person is capable of understanding the world around him with the help of reason.

Representatives of Sufism(Sufists, from suf - wool, hair shirt; according to Al-Biruni, consonant with the word “sophist”) considered the highest good for a person to be voluntary renunciation from the world around him, asceticism, care in self, contemplation, mysticism.

3-* In the 9th century. a new stage of Arab philosophy began, which was characterized by:

increasing influence of materialistic ideas (which was the result of
coverings in the field of medicine and natural sciences);

borrowing ideas from European philosophy, especially ancient Greek,
transformation of Arab philosophy itself into Arab-European
(Arabic-Greek).

The greatest contribution to the formation of the new (Europeanized) Arabic philosophy was made by Al-Kindi, Ibn Sina, Al-Farabi, Ibn Rushd (Averroes).

Al-Kindi(800 - 879) took the first step towards the Europeanization of Arab bilosophy. He is credited with discovering ancient Greek philosophy for the Arabs, in particular Aristotle. Under the influence of Aristotle's ideas, many materialistic ideas, the concept of categories, logic, and the doctrine of knowledge came to Arab philosophy.

Taking as an example Aristotle’s teaching about 10 categories (being and 9 characteristics of being - time, place, etc.), Al-Kindi put forward his own teaching about primordial substances (the Arabic analogue of categories), which he included:

• movement;

  space;

The philosopher also put forward a revolutionary idea for his time about the cognizability of the world by the human mind (which was rejected by the Mutakalli - orthodox “Islamic scholastics”) and identified three stages of scientific knowledge, which must be passed through in sequence in order to achieve true knowledge:

logical and mathematical;

natural science;

metaphysical (philosophical).

Moreover, according to Al-Kindi, only reason can be the source and standard of knowledge.

Al-Kindi's philosophy was significantly ahead of his era and was incomprehensible to his contemporaries (the philosopher was persecuted, and his works were destroyed), however, it was Al-Kindi who laid the tradition of Aristotelianism in Arab philosophy (Eastern Peripateticism) and created the prerequisites for its transformation into. one of the most progressive in Europe and Asia (compared to medieval scholasticism).

Al Farbi(870 - 950) systematized and tried to adapt Aristotle's philosophy to Arab conditions. He was the first to put forward the idea of ​​“emanation” and the non-omnipotence of God. His ideas served as the foundation for the philosophy of Ibn Sina (Avicenna).

Ibn Sina (Avicenna)(980 - 1037) brought Arabic philosophy to a new level of progress. The main works on philosophy: "The Book of Healing" ("The Book of Salvation"), "The Book of Knowledge". Avicenna:

ridiculed the inertia and dogmatism of Islamic theologians;

tried to separate philosophy from religion (while many of his contemporaries considered them inextricably linked and saw the role of philosophy
Sophia in substantiating the provisions and dogmas of Islam);

saw in philosophy a separate science that should generalize the achievements
ideas of the human mind;

based many philosophical ideas on the achievements of natural sciences
(for example, their own medical discoveries);

did not deny the existence of God, but opposed recognizing everything behind him
powerful will;

believed that many phenomena in the world around us occur against the will of God, according to the natural laws of nature;

he saw the reason for the emergence of the world in “emanation” - the outflow of the world from
Deities, but not by the will of God, but by force of natural necessity;

opposed the idea of ​​the “first impulse”, which he replaced with the idea of ​​motion, which is an integral property of matter;

believed that everything that exists is material (both God and the environment
living world);

endowed the soul with special properties - ideality (existence along with matter) and eternity;

also considered God and the world around him to be eternal.

Of the Arab philosophers in medieval Europe, the most famous and popular was Ibn Rushd (Averroes)(1126 - 1198).

Averroes lived and worked in Arab-ruled Spain and was a representative of Western Arab-European philosophy. It was created by him philosophy of Averroism, widespread in Europe and opposed to Catholicism and scholasticism.

The philosophy of Averroes was materialistic in its essence and arose as a synthesis of advanced Arab philosophy (representatives - Al-Kindi, Avicenna) and the systematized and creatively revised teachings of Aristotle. The following main provisions can be highlighted:

the idea of ​​creation was rejected (the world is eternal, it is uncreated and indestructible);

the existence of God was allowed, but primacy in relation to him was not recognized
attitude towards matter (God and the surrounding material world are “co-eternal”);

God was recognized as having very limited capabilities, which boiled down to the main one - to give matter form;

the idea that God sets everything in motion was rejected;

it was proved that motion is an independent property of matter,
hidden in herself;

the idea of ​​hard determinism (conditionality and necessity) was put forward
dimness of everything in nature);

the possibility of immortality of the soul was rejected (the death of the body is at the same time
It is the death of the soul, but the collective mind is the mind of all humanity,
of which the soul of an individual is a part - immortal);

the idea of ​​a “dual truth” was put forward - philosophical and religious
real truths are separate; what is true in religion may be false
but for philosophy and vice versa.

Averroes's materialistic, anti-religious philosophy had a great influence on European philosophy. Averroism became widespread, was taught at universities, and was the spiritual center of attraction for philosophical teachings opposed to scholasticism. Subsequently, a prominent theorist of Catholicism and scholasticism, Thomas Aquinas, was a convinced and consistent critic of Averroism and a fighter against the philosophical ideas of Averroes: among his works is the essay “On the Unity of Reason against the Averroists.”

"chromosome" are words that are familiar to every schoolchild. But the idea of ​​this issue is quite general, since delving into the biochemical jungle requires special knowledge and the desire to understand all this. And even if it is present at the level of curiosity, it quickly disappears under the weight of the presentation of the material. Let's try to understand the intricacies in a scientific-polar form.

A gene is the smallest structural and functional piece of information about heredity in living organisms. Essentially, it is a small piece of DNA that contains knowledge about a certain sequence of amino acids for building a protein or functional RNA (with which the protein will also be synthesized). The gene determines those characteristics that will be inherited and transmitted by descendants further along the genealogical chain. In some single-celled organisms, there is gene transfer that is not related to the reproduction of their own kind; it is called horizontal.

“On the shoulders” of genes lies a huge responsibility for how each cell and the organism as a whole will look and work. They control our lives from the moment of conception to the very last breath.

The first scientific step forward in the study of heredity was made by the Austrian monk Gregor Mendel, who in 1866 published his observations on the results of crossing peas. The hereditary material he used clearly showed patterns of transmission of traits such as the color and shape of peas, as well as flowers. This monk formulated the laws that formed the beginning of genetics as a science. Inheritance of genes occurs because parents give their child half of all their chromosomes. Thus, the characteristics of mom and dad, mixing, form a new combination of existing characteristics. Fortunately, there are more options than there are living creatures on the planet, and it is impossible to find two absolutely identical creatures.

Mendel showed that hereditary inclinations do not mix, but are transmitted from parents to descendants in the form of discrete (separate) units. These units, presented in pairs (alleles) in individuals, remain discrete and are transmitted to subsequent generations in male and female gametes, each of which contains one unit from each pair. In 1909, the Danish botanist Johansen called these units genes. In 1912, a geneticist from the United States of America, Morgan, showed that they are located in chromosomes.

More than a century and a half has passed since then, and research has advanced further than Mendel could have imagined. At the moment, scientists have settled on the opinion that the information found in genes determines the growth, development and functions of living organisms. Or maybe even their death.

Classification

The structure of the gene contains not only information about the protein, but also instructions on when and how to read it, as well as empty sections necessary to separate information about different proteins and stop the synthesis of the information molecule.

There are two forms of genes:

1. Structural - they contain information about the structure of proteins or RNA chains. The sequence of nucleotides corresponds to the arrangement of amino acids.
2. Functional genes are responsible for the correct structure of all other sections of DNA, for the synchronicity and sequence of its reading.

Today, scientists can answer the question: how many genes are on a chromosome? The answer will surprise you: about three billion pairs. And this is only in one out of twenty-three. The genome is the smallest structural unit, but it can change a person's life.

Mutations

A random or targeted change in the sequence of nucleotides included in a DNA chain is called a mutation. It may have virtually no effect on the structure of the protein, or it may completely distort its properties. This means there will be local or global consequences of such a change.

Mutations themselves can be pathogenic, that is, manifest themselves in the form of diseases, or lethal, preventing the body from developing to a viable state. But most of the changes go unnoticed by humans. Deletions and duplications occur constantly within DNA, but do not affect the course of life of any individual.

A deletion is the loss of a section of a chromosome that contains certain information. Sometimes such changes are beneficial for the body. They help him protect himself from external aggression, such as the human immunodeficiency virus and the plague bacteria.

Duplication is the doubling of a section of a chromosome, which means that the set of genes it contains also doubles. Due to the repetition of information, it is less susceptible to selection, which means it can quickly accumulate mutations and change the body.

Gene properties

Each person has a huge Genes - these are functional units in its structure. But even such small areas have their own unique properties that make it possible to maintain the stability of organic life:

1. Discreteness is the ability of genes not to mix.
2. Stability - preservation of structure and properties.
3. Lability is the ability to change under the influence of circumstances, to adapt to hostile conditions.
4. Multiple allelism is the existence within DNA of genes that, while encoding the same protein, have different structures.
5. Allelicity is the presence of two forms of one gene.
6. Specificity - one trait = one gene, inherited.
7. Pleiotropy is the multiplicity of effects of one gene.
8. Expressiveness is the degree of expression of a trait that is encoded by a given gene.
9. Penetrance is the frequency of occurrence of a gene in a genotype.
10. Amplification is the appearance of a significant number of copies of a gene in DNA.

Genome

The human genome is all the hereditary material that is found in a single human cell. It contains instructions about the construction of the body, the functioning of organs, and physiological changes. The second definition of this term reflects the structure of the concept, not the function. The human genome is a collection of genetic material packaged in a haploid set of chromosomes (23 pairs) and belonging to a specific species.

The basis of the genome is a molecule well known as DNA. All genomes contain at least two types of information: encoded information about the structure of messenger molecules (called RNA) and protein (this information is contained in genes), as well as instructions that determine when and where this information is manifested during the development of the organism. The genes themselves occupy a small part of the genome, but at the same time they are its basis. The information recorded in genes is a kind of instruction for the production of proteins, the main building blocks of our body.

However, to fully characterize the genome, the information contained in it about the structure of proteins is insufficient. We also need data on the elements that take part in the work of genes and regulate their expression at different stages of development and in different life situations.

But even this is not enough to completely determine the genome. After all, it also contains elements that contribute to its self-reproduction (replication), compact packaging of DNA in the nucleus, and some still unclear areas, sometimes called “selfish” (that is, supposedly serving only for themselves). For all these reasons, at the moment, when we talk about the genome, we usually mean the entire set of DNA sequences present in the chromosomes of the cell nuclei of a certain type of organism, including, of course, genes.

Genome size and structure

It is logical to assume that the gene, genome, chromosome differ in different representatives of life on Earth. They can be either infinitely small or huge and contain billions of pairs of genes. The structure of the gene will also depend on whose genome you are studying.

Based on the relationship between the size of the genome and the number of genes included in it, two classes can be distinguished:

1. Compact genomes with no more than ten million bases. Their set of genes strictly correlates with size. Most characteristic of viruses and prokaryotes.
2. Large genomes consist of more than 100 million base pairs, with no relationship between their length and the number of genes. More common in eukaryotes. Most nucleotide sequences in this class do not code for proteins or RNA.

Research has shown that the human genome contains about 28 thousand genes. They are unevenly distributed along the chromosomes, but the meaning of this feature still remains a mystery to scientists.

Chromosomes

Chromosomes are a way of packaging genetic material. They are found in the nucleus of every eukaryotic cell and consist of one very long DNA molecule. They can easily be seen in a light microscope during the division process. A karyotype is a complete set of chromosomes that is specific to each individual species. Mandatory elements for them are a centromere, telomeres and replication points.

Chromosome changes during cell division

A chromosome is a series of links in a chain of information transmission, where each next one includes the previous one. But they also undergo certain changes during the life of the cell. For example, in interphase (the period between divisions), chromosomes in the nucleus are arranged loosely and take up a lot of space.

As a cell prepares for mitosis (the process of dividing into two), the chromatin compacts and coils into chromosomes so that it can be seen under a light microscope. In metaphase, the chromosomes resemble rods, closely spaced and connected by a primary constriction, or centromere. It is she who is responsible for the formation of the spindle, when groups of chromosomes line up. Depending on the location of the centromere, there is the following classification of chromosomes:

1. Acrocentric - in this case, the centromere is located polar to the center of the chromosome.
2. Submetacentric, when the arms (that is, the areas located before and after the centromere) are of unequal length.
3. Metacentric if the centromere divides the chromosome exactly in the middle.

This classification of chromosomes was proposed in 1912 and is used by biologists to this day.

Chromosome abnormalities

As with other morphological elements of a living organism, structural changes can also occur with chromosomes that affect their functions:

1. Aneuploidy. This is a change in the total number of chromosomes in a karyotype due to the addition or removal of one of them. The consequences of such a mutation can be lethal to the unborn fetus and can also lead to birth defects.
2. Polyploidy. Manifests itself in the form of an increase in the number of chromosomes, a multiple of half their number. Most often found in plants, such as algae, and fungi.
3. Chromosomal aberrations, or rearrangements, are changes in the structure of chromosomes under the influence of environmental factors.

Genetics

Genetics is a science that studies the patterns of heredity and variability, as well as the biological mechanisms that provide them. Unlike many other biological sciences, from its inception it has strived to be an exact science. The entire history of genetics is the history of the creation and use of more and more accurate methods and approaches. The ideas and methods of genetics play an important role in medicine, agriculture, genetic engineering, and the microbiological industry.

Heredity is the ability of an organism to provide a number of morphological, biochemical and physiological characteristics and characteristics. In the process of inheritance, the main species-specific, group (ethnic, population) and family features of the structure and functioning of organisms, their ontogenesis (individual development) are reproduced. Not only certain structural and functional characteristics of the body are inherited (facial features, some features of metabolic processes, temperament, etc.), but also the physicochemical features of the structure and functioning of the main biopolymers of the cell. Variability is the variety of characteristics among representatives of a certain species, as well as the ability of descendants to acquire differences from their parent forms. Variability, together with heredity, are two inseparable properties of living organisms.

Down syndrome

Down syndrome is a genetic disorder in which a person's karyotype consists of 47 chromosomes instead of the usual 46. This is one of the forms of aneuploidy discussed above. In the twenty-first pair of chromosomes, an additional one appears, which introduces extra genetic information into the human genome.

The syndrome received its name in honor of the doctor, Don Down, who discovered and described it in literature as a form of mental disorder in 1866. But the genetic basis was discovered almost a hundred years later.

Epidemiology

At the moment, a karyotype of 47 chromosomes in humans occurs once per thousand newborns (previously the statistics were different). This became possible thanks to the early diagnosis of this pathology. The disease does not depend on the mother's race, ethnicity or social status. Age has an effect. The chances of having a child with Down syndrome increase after thirty-five years of age, and after forty the ratio of healthy children to sick children is already 20 to 1. The father's age over forty also increases the chances of having a child with aneuploidy.

Forms of Down syndrome

The most common option is the appearance of an additional chromosome in the twenty-first pair along a non-hereditary path. It is due to the fact that during meiosis this pair does not separate along the spindle. Five percent of patients have mosaicism (an additional chromosome is not found in all cells of the body). Together they make up ninety-five percent of the total number of people with this congenital pathology. In the remaining five percent of cases, the syndrome is caused by hereditary trisomy of the twenty-first chromosome. However, the birth of two children with this disease in one family is insignificant.

Clinic

A person with Down syndrome can be recognized by characteristic external signs, here are some of them:

Flattened face;
- shortened skull (the transverse size is larger than the longitudinal one);
- skin fold on the neck;
- a fold of skin that covers the inner corner of the eye;
- excessive joint mobility;
- decreased muscle tone;
- flattening of the back of the head;
- short limbs and fingers;
- development of cataracts in children over eight years of age;
- anomalies in the development of teeth and hard palate;
- congenital heart defects;
- possible presence of epileptic syndrome;
- leukemia.

But it is, of course, impossible to make an unambiguous diagnosis based only on external manifestations. Karyotyping is necessary.

Conclusion

Gene, genome, chromosome - it seems that these are just words, the meaning of which we understand in a generalized and very distant way. But in fact, they greatly influence our lives and, by changing, force us to change. A person knows how to adapt to circumstances, no matter what they turn out to be, and even for people with genetic abnormalities there will always be a time and place where they will be irreplaceable.

What is the human genome? How long has this term been used in science and, and why is this concept so important in our time?

Human genome- the totality of hereditary material contained in a cell. It consists of 23 pairs.

Genes are individual pieces of DNA. Each of them is responsible for some characteristic or part of the body: height, eye color, etc.

When scientists manage to completely “decipher” the information recorded on DNA, people will be able to fight diseases that are inherited. Moreover, perhaps then it will be possible to solve the problem of aging.

Previously it was believed that the number of genes in our body is more than hundreds of thousands. However, recent international studies have confirmed that there are approximately 28,000 genes in our body. To date, only a few thousand of them have been studied.

Genes are unevenly distributed across chromosomes. Why this is so, scientists do not yet know.

The cells of the body constantly read the information that is written in DNA. Each of them does its job: distributes oxygen throughout the body, destroys viruses, etc.

But there are also special cells - reproductive cells. In men these are sperm, and in women they are eggs. They contain not 46 chromosomes, but exactly half - 23.

When the sex cells fuse, the new organism ends up with a full set of chromosomes: half from the father and half from the mother.

This is why children are somewhat similar to each of their parents.

Several genes are usually responsible for the same trait. For example, our height depends on 16 units of DNA. At the same time, some genes affect several traits at once (for example, those with red hair have a light skin tone and freckles).

A person's eye color is determined by two genes, and the one responsible for brown eyes is dominant. This means that it is more likely to manifest itself when it “meets” another gene.

Therefore, a brown-eyed father and a blue-eyed mother will most likely have a brown-eyed baby. Dark hair, thick eyebrows, dimples on the cheeks and chin are also dominant signs.

But the gene responsible for blue eyes is recessive. Such genes appear much less frequently if both parents have them.

We hope that now you know what the human genome is. Of course, in the near future science may surprise us with new discoveries in this area. But this is a matter for the future.

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How many genes does a person have?

This is the most interesting question, for the sake of which the complete sequencing of the human genome was actually started. After obtaining basic information about the structure of the human genome, various analyzes were first carried out to search for genes and determine their number. However, the task was not easy. This may seem strange to the reader, but there is still no clear answer to the question posed.

How many genes are there in human DNA? A few years ago it was believed that there were about 100 thousand of them, then they decided that there were no more than 80 thousand. At the end of 1998, they came to the conclusion that there are no more than 50–60 thousand genes in the human genome and they account for about 3 % of total DNA length.

The latest estimates of the total number of genes in the human genome were carried out by several international teams of scientists. The already mentioned company “Celera” conducted its own research, the results of which were presented in the journal “Science” in 2001. She estimates the total number of genes in the human genome to be between 26,383 and 39,114. The average gene size is estimated to be approximately 3000 bp. If we assume that the number of genes in humans is about 30 thousand and each gene accounts for approximately 3 thousand bp, then it is easy to calculate that less than 1.5% of chromosomal DNA is involved in protein coding. Thus, the genetic instructions for the formation of human personality occupy less than 3 centimeters on a two-meter DNA molecule. The small number of genes carrying these instructions is also surprising - there are only five times more of them than, for example, in what we consider to be a completely primitive organism, the Drosophila fly.

A second team of researchers from the US National Institute for Genomic Research, led by Francis Collins, calculated the number of genes in a person independently and based on their data, and received a similar result - about 32,000 genes are contained in the genome of each human cell.

So far, two other teams of scientists are making discrepancies in the final estimates. Dr. William Heseltine (head of Human Genome Science) continues to insist that their bank contains privatized information for 120 thousand genes. He is not going to share this information with the world community for now. The company has invested money in patents and plans to make money on the information obtained, as it relates to the genes of widespread human diseases. The Insight company reported that it currently has a catalog of 140 thousand human genes identified by it, and also insists on this number of the total number of genes in humans.

It is obvious that the hastily privatized genetic information will still be carefully analyzed and verified in the coming years, until the exact number of genes is finally “canonized.” The fact is that the structure of genes is very diverse and all possible options are not yet fully understood. Here we read the sequence of DNA nucleotides. It has been determined that it is capable of encoding a protein. But is it alone? We have already discussed above how transcription and subsequent modifications of RNA, and then translation and modifications of polypeptides, can provide a huge variety of proteins encoded by one section of DNA. And it is often simply impossible to understand this based only on the DNA nucleotide sequence. Nevertheless, the structure of the genome represents the only basis for understanding the data obtained by such new directions, born of genomics, as transcriptomics (studies the totality of RNA transcripts of the body), proteomics (studies the totality of proteins of the body), metabolomics (studies metabolism - metabolism - in the body ). These directions are intended to complement the genomic sequencing method underlying structural genomics and make it possible to go beyond the limits of its resolution.

Alternative splicing was also discussed above. It is now well known that due to this process, different proteins can be read from the same genes, which then interact with each other, forming a unique mixture, just as a myriad of shades can be obtained from the primary colors in painting - yellow, red and blue. Such splicing is typical for at least half of human genes. It is believed that, on average, three different peptides can be formed from one human gene due to alternative splicing. But some genes have up to 10 alternatively spliced ​​exons, allowing theoretically more than 1,000 different protein variants to be generated from just one gene. In reality, the number of different proteins encoded by one gene reaches 10. In addition, there are also alternative promoters, alternative translation initiation codons, RNA editing (conversion of C to U or A to the analogue G - inosine). All of the above cannot yet be taken into account when estimating the total number of genes in humans.

But that's not all. In addition to genes that encode proteins, there are also genes whose final product is RNA. Let us remember the riboregulator genes mentioned above - they do not encode proteins, but produce RNA that functions in cells. So, most likely, a final estimate of the number of genes in humans will not be made soon.

To date, scientists know the functions of only about eight to ten thousand of them. And detailed information about the mechanisms of their regulation is even more scarce. However, the above data on the structure and functioning of human genes indicate that man, who reigns in nature, unlike other organisms existing on our planet, has a very high complexity proteome- a complete set of functional proteins in the cell, which is ensured not simply due to the large size of the genome or a large number of genes, but thanks to all sorts of innovations associated with the functioning of genes and the formation of proteins: a larger number of domain modules, higher combinatorics (mixing) of these modules in proteins, active use of alternative splicing and much more, which we will talk about next.

The Human Genome: An Encyclopedia Written in Four Letters Tarantula Vyacheslav Zalmanovich

PART I. STRUCTURE OF THE HUMAN GENOME

WHAT IS A GENOME?

Questions are eternal, answers are determined by time.

E. Chargaff

In a dialogue with life, it is not its question that is important, but our answer.

M. I. Tsvetaeva

From the very beginning, let us define what we mean here by the word genome. This term itself was first proposed in 1920 by the German geneticist G. Winkler. Then there was already another scientific term - genotype, introduced into the arsenal of geneticists by V. Johansen back in 1909, by which was meant the totality of all the hereditary inclinations of a given specific cell or a given specific organism. Subsequently, Johansen himself said with surprise that his “word” unexpectedly materialized in the later chromosome theory of T. Morgan. But now a new term has appeared - genome. Unlike genotype, this term was supposed to become characteristic of an entire species of organism, rather than a specific individual. And this became a new stage in the development of genetics.

In the biological dictionary the concept genome is defined as a set of genes characteristic of a haploid (single) set of chromosomes of a given type of organism. This formulation does not sound entirely clear to a non-specialist, and most importantly, it is inaccurate in the modern understanding of the word. The basis of the genome is a molecule of deoxyribonucleic acid, well known in abbreviated form as DNA. After all, all genomes (DNA) contain at least two types of information: encoded information about the structure of messenger molecules (so-called RNA) and protein (this information is contained in genes), as well as instructions that determine the time and place of manifestation of this information during development and further life activity of the organism (this information is mainly located in intergenic regions, although partially in the genes themselves). The genes themselves occupy a very small part of the genome, but at the same time they form its basis. The information recorded in genes is a kind of “instruction” for the manufacture of proteins, the main building blocks of our body. “On the shoulders” of genes lies a huge responsibility for how each cell and the organism as a whole will look and work. They control our lives from the moment of conception to the very last breath, without them not a single organ functions, blood does not flow, the heart does not beat, the liver and brain do not work.

However, to fully characterize the genome, the information contained in it about the structure of proteins is insufficient. We also need data on the elements of the genetic apparatus that take part in the work ( expression) genes regulate their expression at different stages of development and in different life situations.

But even this is not enough to completely determine the genome. After all, the genome also contains elements that contribute to its self-reproduction ( replication), compact packaging of DNA in the nucleus, and some other still unclear regions, sometimes called “selfish” (that is, as if serving only for themselves). For all these reasons, today, when we talk about the genome, we usually mean the entire set of DNA sequences present in the chromosomes of the cell nuclei of a certain type of organism, including, of course, genes. In this book we will mean exactly this definition. At the same time, it should be remembered that some other structures (organelles) of the cell also contain genetic information necessary for the functioning of organisms. In particular, all animal organisms, including humans, also have a mitochondrial genome, that is, DNA molecules present in intracellular structures such as mitochondria and containing a number of so-called mitochondrial genes. The human mitochondrial genome is very small compared to the nuclear genome located on chromosomes, but nevertheless, its contribution to cellular metabolism is very significant.

It is clear that knowledge of DNA structure alone is not at all sufficient to fully describe the hereditary system of a cell. The following analogy is given to this conclusion in the literature: information about the number and shape of bricks cannot reveal the design of the Gothic cathedral and the progress of its construction. In a broader sense, the hereditary system of a cell is made up not only of the DNA structure, but also of its other components, the totality of which and environmental factors determine how the genome will work, how the course of individual development will proceed, and how the resulting organism will live later.

From the book The Newest Book of Facts. Volume 1 [Astronomy and astrophysics. Geography and other earth sciences. Biology and Medicine] author

From the book The Human Genome: An Encyclopedia Written in Four Letters author

PART I. STRUCTURE OF THE HUMAN GENOME WHAT IS A GENOME? Questions are eternal, answers are determined by time. E. Chargaff In a dialogue with life, it is not its question that is important, but our answer. M. I. Tsvetaeva From the very beginning, let us define what we mean here by the word genome. This term itself

From the book The Human Genome [Encyclopedia written in four letters] author Tarantul Vyacheslav Zalmanovich

THE MAIN PART OF THE GENOME IS TERRA INCOGNITA Progress in biology is the transition from false knowledge to true ignorance. V. Ya. Alexandrov There is nothing useless in nature. M. Montaigne It has now become possible to estimate that RNA is synthesized from only a maximum of 25–28% of nucleotides

From the book The Newest Book of Facts. Volume 1. Astronomy and astrophysics. Geography and other earth sciences. Biology and medicine author Kondrashov Anatoly Pavlovich

From the book Future Human Evolution. Eugenics of the XXI century by Glad John

From the book Life Deciphered [My Genome, My Life] by Venter Craig

From the book Biological Chemistry author Lelevich Vladimir Valeryanovich

From the author's book

THE MAIN PART OF THE GENOME IS TERRA INCOGNITA Progress in biology is the transition from false knowledge to true ignorance. V. Ya. Alexandrov There is nothing useless in nature. M. Montaigne It has now become possible to estimate that RNA is synthesized from only a maximum of 25–28% of nucleotides

From the author's book

From the author's book

PART II. HUMAN GENOME FUNCTION THE QUEEN IS DEAD - LONG LIVE THE QUEEN! What we know is limited, but what we do not know is infinite. P. Laplace Science always turns out to be wrong. She will never resolve an issue without raising a dozen new ones. B. Shaw So,

From the author's book

How is a computer useful for studying the human genome? Without computer bioinformation technologies (genoinformatics, or, in a broader sense, bioinformatics), the development of genomic research would hardly be possible at all. It’s even hard to imagine how

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PART III. ORIGIN AND EVOLUTION OF THE HUMAN GENOME

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How different is the human genome from the chimpanzee genome? The genome is the collection of genes contained in the haploid (single) set of chromosomes of a given organism. The genome is a characteristic not of an individual, but of a species of organisms. In February 2001 in the American

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Mapping the human genome We do not need to bother the gods in vain - There are the entrails of victims to guess about war, Slaves to remain silent, and stones to build! Osip Mandelstam, “Nature is the same as Rome...” Genetics is a young science. The evolution of species has been truly discovered

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Chapter 11 Decoding the Human Genome What do you say when, climbing with all your might to the top of a mountain that no one has ever been to, you suddenly see a person climbing up a parallel path? In science, collaboration is always much more fruitful