World Human Genome Project presentation. International Human Genome Project

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The genome contains the biological information necessary to build and maintain an organism. Most genomes, including the human genome and the genomes of all other cellular life forms, are made from DNA, but some viruses have RNA genomes. Genome - the totality of hereditary material contained in the cell of an organism.

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The human genome consists of 23 pairs of chromosomes located in the nucleus, as well as mitochondrial DNA. Twenty-two autosomal chromosomes, two sex chromosomes X and Y, and human mitochondrial DNA together contain approximately 3.1 billion base pairs.

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The term “genome” was proposed by Hans Winkler in 1920 in a work devoted to interspecific amphidiploid plant hybrids to describe the set of genes contained in the haploid set of chromosomes of organisms of the same biological species.

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Regulatory sequences The human genome contains many different sequences responsible for gene regulation. Regulation refers to the control of gene expression (the process of constructing messenger RNA along a section of a DNA molecule). These are usually short sequences found either near a gene or within a gene.

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The identification of regulatory sequences in the human genome has been made in part on the basis of evolutionary conservation (the property of retaining important fragments of the chromosomal sequence that serve approximately the same function). According to some hypothesis, in the evolutionary tree the branch separating humans and mice appeared approximately 70-90 million years ago

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Genome size is the total number of DNA base pairs in one copy of the haploid genome. The sizes of the genomes of organisms of different species differ significantly from each other, and there is often no correlation (a statistical relationship between two or more random variables) between the level of evolutionary complexity of a biological species and the size of its genome.

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Organization of genomes of Eukaryotes In eukaryotes, the genomes are located in the nucleus (Karyomes) and contain from several to many thread-like chromosomes.

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Prokaryotes In prokaryotes, DNA is present in the form of circular molecules. Prokaryotic genomes are generally much smaller than those of eukaryotes. They contain relatively small non-coding parts (5-20%).

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A little history On April 25, now distant 1953, the journal Nature published a small letter from the young and unknown F. Crick and J. Watson to the editor of the magazine, which began with the words: “We would like to offer our thoughts on the structure of the DNA salt. This structure has new properties that are of great biological interest." The article contained about 900 words, but - and this is not an exaggeration - each of them was worth its weight in gold. The “rumpy youth” dared to speak out against Nobel laureate Linus Pauling, the author of the famous alpha helix of proteins. Just the day before, Pauling published an article according to which DNA was a three-stranded helical structure, like a girl’s braid. No one knew then that Pauling simply had insufficiently purified material. But Pauling turned out to be partly right - now the three-stranded nature of some parts of our genes is well known. At one time they even tried to use this property of DNA in the fight against cancer, turning off certain cancer genes (oncogenes) using oligonucleotides.

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A bit of history The scientific community, however, did not immediately recognize the discovery of F. Crick and J. Watson. Suffice it to say that the first Nobel Prize for work in the field of DNA was awarded to the “judges” from Stockholm in 1959 to the famous American biochemists Severo Ochoa and Arthur Kornberg. Ochoa was the first (1955) to synthesize ribonucleic acid (RNA). Kornberg received a prize for DNA synthesis in vitro (1956). In 1962, it was the turn of Crick and Watson.

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A little history After the discovery of Watson and Crick, the most important problem was to identify the correspondence between the primary structures of DNA and proteins. Since proteins contain 20 amino acids, and there are only 4 nucleic bases, at least three bases are needed to record information about the sequence of amino acids in polynucleotides. Based on such general reasoning, variants of “three-letter” genetic codes were proposed by physicist G. Gamov and biologist A. Neyfakh. However, their hypotheses were purely speculative and did not cause much response among scientists. By 1964, the three-letter genetic code was deciphered by F. Crick. It is unlikely that he then imagined that in the foreseeable future it would become possible to decipher the human genome. This task seemed insurmountable for a long time.

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And now the genome has been read. The completion of work on decoding the human genome by a consortium of scientists was planned for 2003 - the 50th anniversary of the discovery of the structure of DNA. However, competition has had its say in this area as well. Craig Venter founded a private company called Selera, which sells gene sequences for big money. By joining the race to decipher the genome, she did in one year what took an international consortium of scientists from different countries ten years to achieve. This became possible thanks to a new method for reading genetic sequences and the use of automation of the reading process.

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And now the genome has been read. So, the genome has been read. It would seem that we should rejoice, but scientists were perplexed: very few genes turned out to be in humans - about three times less than expected. Previously, it was thought that we have about 100 thousand genes, but in fact there were about 35 thousand of them. But this is not even the most important thing. Scientists’ bewilderment is understandable: Drosophila has 13,601 genes, a soil roundworm has 19 thousand, and mustard has – 25 thousand genes. Such a small number of genes in humans does not allow us to distinguish him from the animal kingdom and consider him the “crown” of creation.

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And now the genome has been read. In the human genome, scientists have counted 223 genes that are similar to the genes of Escherichia coli. Escherichia coli arose approximately 3 billion years ago. Why do we need such “ancient” genes? Apparently, modern organisms have inherited from their ancestors some fundamental structural properties of cells and biochemical reactions that require appropriate proteins. It is therefore not surprising that half of mammalian proteins have similar amino acid sequences to Drosophila fly proteins. After all, we breathe the same air and consume animal and plant proteins, consisting of the same amino acids. It’s amazing that we share 90% of our genes with mice, and 99% with chimpanzees!

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And now the genome has been read. Our genome contains many sequences that we inherited from retroviruses. These viruses, which include cancer and AIDS viruses, contain RNA instead of DNA as hereditary material. A feature of retroviruses is, as already mentioned, the presence of reverse transcriptase. After DNA synthesis from the RNA of the virus, the viral genome is integrated into the DNA of the cell's chromosomes. We have many such retroviral sequences. From time to time they “break out” into the wild, resulting in cancer (but cancer, in full accordance with Mendel’s law, appears only in recessive homozygotes, i.e. in no more than 25% of cases). More recently, a discovery was made that allows us to understand not only the mechanism of viral insertion, but also the purpose of non-coding DNA sequences. It turned out that a specific sequence of 14 letters of genetic code is required to integrate the virus. Thus, one can hope that soon scientists will learn not only to block aggressive retroviruses, but also to purposefully “introduce” the necessary genes, and gene therapy will turn from a dream into a reality.

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And now the genome has been read. K. Venter said that understanding the genome will take hundreds of years. After all, we still do not know the functions and roles of more than 25 thousand genes. And we don’t even know how to approach solving this problem, since most genes are simply “silent” in the genome, not manifesting themselves in any way. It should be taken into account that the genome has accumulated many pseudogenes and “changeover” genes, which are also inactive. It seems that non-coding sequences act as an insulator for active genes. At the same time, although we don’t have too many genes, they provide the synthesis of up to 1 million (!) of a wide variety of proteins. How is this achieved with such a limited set of genes?

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And now the genome has been read. As it turns out, there is a special mechanism in our genome - alternative splicing. It consists in the following. On the template of the same DNA, the synthesis of different alternative mRNAs occurs. Splicing means “splitting” when different RNA molecules are formed, which, as it were, “split” the gene into different variants. This leads to an unimaginable diversity of proteins with a limited set of genes. The functioning of the human genome, like that of all mammals, is regulated by various transcription factors - special proteins. These proteins bind to the regulatory part of the gene (promoter) and thus regulate its activity. The same factors can manifest themselves differently in different tissues. A person has his own, unique to him, transcription factors. Scientists have yet to identify these purely human features of the genome.

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SNP There is another mechanism of genetic diversity, which was revealed only in the process of reading the genome. This is a singular nucleotide polymorphism, or the so-called SNP factors. In genetics, polymorphism is a situation where genes for the same trait exist in different variants. An example of polymorphism, or, in other words, multiple alleles, are blood groups, when in one chromosomal locus (section) there may be variants of genes A, B or O. Singularity in Latin means loneliness, something unique. A SNP is a change in the “letter” of the genetic code without “health consequences.” It is believed that in humans SNP occurs with a frequency of 0.1%, i.e. Each person differs from others by one nucleotide for every thousand nucleotides. In chimpanzees, which are an older species and also much more heterogeneous, the number of SNPs when comparing two different individuals reaches 0.4%.

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SNP But the practical significance of SNP is also great. Perhaps not everyone knows that today the most common medications are effective for no more than a quarter of the population. Minimal genetic differences caused by SNP determine the effectiveness of drugs and their tolerability in each specific case. Thus, 16 specific SNPs were identified in diabetic patients. In total, when analyzing the 22nd chromosome, the location of 2730 SNPs was determined. In one of the genes encoding the synthesis of the adrenaline receptor, 13 SNPs were identified, which can be combined with each other, giving 8192 different variants (haplotypes). How soon and fully the information obtained will begin to be used is not yet entirely clear. For now, let's give another specific example. Among asthmatics, the drug albuterol is quite popular, which interacts with the specified adrenaline receptor and suppresses an attack of suffocation. However, due to the diversity of people's haplotypes, the medicine does not work on everyone, and for some patients it is generally contraindicated. This is due to SNP: people with the sequence of letters in one of the genes TCTC (T-thymine, C-cytosine) do not respond to albuterol, but if the terminal cytosine is replaced by guanine (TCTCG), then there is a reaction, but partial. For people with thymine instead of the terminal cytosine in this region - TCTCT - the medicine is toxic!

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Proteomics This entirely new branch of biology, which studies the structure and function of proteins and the relationships between them, is named after genomics, which deals with the human genome. The very birth of proteomics already explains why the Human Genome program was needed. Let us explain with an example the prospects for a new direction. Back in 1962, John Candrew and Max Perutz were invited to Stockholm from Cambridge, along with Watson and Crick. They were awarded the Nobel Prize in Chemistry for the first deciphering of the three-dimensional structure of the proteins myoglobin and hemoglobin, responsible for the transport of oxygen in muscles and red blood cells, respectively.

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Proteomics Proteomics makes this work faster and cheaper. K. Venter noted that he spent 10 years isolating and sequencing the human adrenaline receptor gene, but now his laboratory spends 15 seconds on it. Back in the mid-90s. Finding the “address” of a gene in chromosomes took 5 years, in the late 90s – six months, and in 2001 – one week! By the way, information about SNPs, of which there are already millions today, helps to speed up the determination of the gene position. Genome analysis made it possible to isolate the ACE-2 gene, which encodes a more common and effective variant of the enzyme. Then the virtual structure of the protein product was determined, after which chemical substances that actively bind to the ACE-2 protein were selected. This is how a new drug against blood pressure was found, in half the time and for only 200 instead of 500 million dollars!

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Proteomics We admit that this was an example of the “pre-genomic” period. Now, after reading the genome, proteomics comes to the fore, the goal of which is to quickly understand the million proteins that could potentially exist in our cells. Proteomics will make it possible to more thoroughly diagnose genetic abnormalities and block the adverse effects of mutant proteins on the cell. And over time, it will be possible to plan the “correction” of genes.

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A little history The scientific community, however, did not immediately recognize the discovery of F. Crick and J. Watson. Suffice it to say that the Nobel Prize for work in the field of DNA was first awarded by the “judges” from Stockholm in 1959 to the famous American biochemists Severo Ochoa and Arthur Kornberg. Ochoa was the first (1955) to synthesize ribonucleic acid (RNA). Kornberg received the prize for DNA synthesis in vitro (1956). In 1962 it was the turn of Crick and Watson.

A little history After the discovery of Watson and Crick, the most important problem was to identify the correspondence between the primary structures of DNA and proteins. Since proteins contain 20 amino acids, and there are only 4 nucleic bases, at least three bases are needed to record information about the sequence of amino acids in polynucleotides. Based on such general reasoning, variants of “three-letter” genetic codes were proposed by physicist G. Gamov and biologist A. Neyfakh. However, their hypotheses were purely speculative and did not cause much response among scientists. The three-letter genetic code was deciphered by F. Crick by 1964. It is unlikely that he then imagined that in the foreseeable future it would become possible to decipher the human genome. This task seemed insurmountable for a long time.

And now the genome has been read. So, the genome has been read. It would seem that we should rejoice, but scientists were perplexed: very few genes turned out to be in humans - about three times less than expected. They used to think that we had about 100 thousand genes, but in fact there were about 35 thousand of them. But this is not even the most important thing. The bewilderment of scientists is understandable: Drosophila has 13,601 genes, round soil worms have 19 thousand, mustard has 25 thousand genes. Such a small number of genes in humans does not allow us to distinguish him from the animal kingdom and consider him the “crown” of creation.

And now the genome has been read. Our genome contains many sequences that we inherited from retroviruses. These viruses, which include cancer and AIDS viruses, contain RNA instead of DNA as hereditary material. A feature of retroviruses is, as already mentioned, the presence of reverse transcriptase. After DNA synthesis from the RNA of the virus, the viral genome is integrated into the DNA of the cell chromosomes. We have many such retroviral sequences. From time to time they “break out” into the wild, resulting in cancer (but cancer, in full accordance with Mendel’s law, appears only in recessive homozygotes, i.e. in no more than 25% of cases). More recently, a discovery was made that allows us to understand not only the mechanism of viral insertion, but also the purpose of non-coding DNA sequences. It turned out that a specific sequence of 14 letters of genetic code is required to integrate the virus. Thus, one can hope that soon scientists will learn not only to block aggressive retroviruses, but also to purposefully “introduce” the necessary genes, and gene therapy will turn from a dream into a reality.

And now the genome has been read. As it turns out, there is a special mechanism in our genome - alternative splicing. It consists in the following. On the template of the same DNA, the synthesis of different alternative mRNAs occurs. Splicing means “splitting” when different RNA molecules are formed, which, as it were, “split” the gene into different variants. This results in an unimaginable diversity of proteins with a limited set of genes. The functioning of the human genome, like that of all mammals, is regulated by various transcription factors - special proteins. These proteins bind to the regulatory part of the gene (promoter) and thus regulate its activity. The same factors can manifest themselves differently in different tissues. A person has his own, unique to him, transcription factors. Scientists have yet to identify these purely human features of the genome.

SNP But the practical significance of SNP is also great. Perhaps not everyone knows that today the most common medications are effective for no more than a quarter of the population. Minimal genetic differences caused by SNP determine the effectiveness of drugs and their tolerability in each specific case. Thus, 16 specific SNPs were identified in diabetic patients. In total, when analyzing the 22nd chromosome, the location of 2730 SNPs was determined. In one of the genes encoding the synthesis of the adrenaline receptor, 13 SNPs were identified, which can be combined with each other, giving 8192 different variants (haplotypes). It is not yet entirely clear how quickly and fully the information received will begin to be used. For now, let's give one more concrete example. Among asthmatics, the drug albuterol is quite popular, which interacts with this adrenaline receptor and suppresses an attack of suffocation. However, due to the diversity of people's haplotypes, the medicine does not work on everyone, and for some patients it is generally contraindicated. This is due to SNP: people with the sequence of letters in one of the genes TCTC (T-thymine, C-cytosine) do not respond to albuterol, but if the terminal cytosine is replaced by guanine (TCTCG), then there is a reaction, but partial. For people with thymine instead of the terminal cytosine in this region - TCTCT - the medicine is toxic!

Proteomics This entirely new branch of biology, which studies the structure and function of proteins and the relationships between them, is named after genomics, which deals with the human genome. The very birth of proteomics already explains why the Human Genome program was needed. Let us explain with an example the prospects for a new direction. Back in 1962, John Candrew and Max Perutz were invited to Stockholm from Cambridge along with Watson and Crick. They were awarded the Nobel Prize in Chemistry for the first deciphering of the three-dimensional structure of the proteins myoglobin and hemoglobin, responsible for the transport of oxygen in muscles and red blood cells, respectively.

Proteomics Proteomics makes this work faster and cheaper. K. Venter noted that he spent 10 years isolating and sequencing the human adrenaline receptor gene, but now his laboratory spends 15 seconds on it. Back in the mid-90s. Finding the “address” of a gene in chromosomes took 5 years, in the late 90s – six months, and in 2001 – one week! By the way, information about SNPs, of which there are already millions today, helps to speed up the determination of the gene position. Genome analysis made it possible to isolate the ACE-2 gene, which encodes a more common and efficient version of the enzyme. Then the virtual structure of the protein product was determined, after which chemical substances that actively bind to the ACE-2 protein were selected. This is how a new drug against blood pressure was found, in half the time and for only 200 instead of 500 million dollars!

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Contents Introduction.................................................... ........................3 1. "Human Genome". Project milestones...................................4 2. Chromosome maps. Approaches to their compilation......................6 3. Development of new technologies.................. ........................9 4. Results. Challenges for the future...................................10 Conclusion........ ........................................................ .......15 References.................................................... ...................16 Introduction. The international Human Genome Project was launched in 1988 under the leadership of James Watson under the auspices of the US National Health Organization. This is one of the most time-consuming and expensive projects in the history of science. If in 1990 about $60 million was spent on it in total, then in 1998 the US government alone spent $253 million, and private companies - even more. The project involves several thousand scientists from more than 20 countries. Since 1989, Russia has also participated in it, where about 100 groups are working on the project. All human chromosomes are divided between the participating countries, and Russia received the 3rd, 13th and 19th chromosomes for research. The goal of the project is to determine the sequence of bases in all DNA molecules in human cells. At the same time, the localization of all genes must be established, which would help to clarify the causes of hereditary diseases and thereby open the way to their treatment. Several thousand scientists specializing in biology, chemistry, mathematics, physics and technology are involved in the project. A working draft of the genome structure was released in 2000, the complete genome was released in 2003, however, even today additional analysis of some sections has not yet been completed. Beyond its obvious fundamental importance, determining the structure of human genes is an important step for the development of new medicines and other aspects of healthcare. While the goal of the Human Genome Project is to understand the genome of the human species, the project has also focused on several other organisms, including bacteria such as Escherichia coli, insects such as the fruit fly, and mammals such as the mouse. 1. "Human Genome". Project milestones. There are 23 pairs of chromosomes in any human somatic cell. Each of them contains one DNA molecule. The length of all 46 molecules is almost 2 m. An adult human has approximately 5x1013 cells, so the total length of DNA molecules in the body is 1011 km (almost a thousand times the distance from the Earth to the Sun). There are 3.2 billion pairs of nucleotides in the DNA molecules of one human cell. Each nucleotide consists of a carbohydrate, a phosphate, and a nitrogenous base. Carbohydrates and phosphates are the same in all nucleotides, and there are four nitrogenous bases. Thus, the language of genetic records is four-letter, and if the base is its “letter,” then the “words” are the order of amino acids in the proteins encoded by the genes. In addition to the composition of proteins in the genome (the totality of genes in a single set of chromosomes), other interesting information is recorded. We can say that Nature (as a result of evolution or God's providence) encoded in DNA instructions on how cells survive, respond to external influences, prevent “breakdowns”, in other words, how the body develops and ages. Any violation of these instructions leads to mutations, and if they occur in germ cells (sperm or eggs), the mutations are passed on to subsequent generations, threatening the existence of that species. How to visualize 3 billion bases? To reproduce the information contained in the DNA of a single cell, even in the smallest print (as in telephone directories), would require a thousand 1000-page books! How many genes, that is, sequences of nucleotides encoding proteins, are there in human DNA? Back in 1996, it was believed that a person has about 100 thousand genes; now bioinformatics experts suggest that there are no more than 40 thousand genes in the human genome, and they account for only 3% of the total length of cell DNA, and the functional role of the rest 97% not yet installed. The goal of the project is to find out the sequences of nitrogenous bases and gene positions (mapping) in every DNA molecule of every human cell, which would reveal the causes of hereditary diseases and ways to treat them. The project employs thousands of specialists from all over the world: biologists, chemists, mathematicians, physicists and technicians. The project consists of five main stages: * drawing up a map on which genes are marked that are separated from each other by no more than 2 million bases, in the language of specialists, with a resolution of 2 MB (Megabase - from the English word "base" - base) ; * completion of physical maps of each chromosome with a resolution of 0.1 MB; * obtaining a map of the entire genome in the form of a set of individually described clones (0.005 Mb); * by 2004, complete DNA sequencing (1 base resolution); * mapping at 1-base resolution all human genes (by 2005). Once these steps are completed, the researchers will determine the full functions of the genes, as well as the biological and medical applications of the results. 2. Chromosome maps. Approaches to their compilation. During the project, three types of chromosome maps are created: genetic, physical and sequence (from the English sequence - sequence). Identifying all the genes present in the genome and establishing the distances between them means localizing each gene on the chromosomes. Such genetic maps, in addition to inventorying genes and indicating their positions, will answer the extremely important question of how genes determine certain characteristics of an organism. After all, many traits depend on several genes, often located on different chromosomes, and knowledge of the position of each of them will make it possible to understand how the differentiation (specialization) of cells, organs and tissues occurs, as well as to more successfully treat genetic diseases. In the 20s and 30s, when the chromosomal theory of heredity was being created, elucidation of the position of each gene led to the fact that on the genetic maps of first Drosophila, and then corn and a number of other species, it was possible to mark special points, as they said then, “genetic markers” "chromosomes. Analysis of their position in chromosomes helped provide new information to the genetic maps of human chromosomes. The first data on the position of individual genes appeared back in the 60s. Since then, they have multiplied like an avalanche, and the position of tens of thousands of genes is now known. Three years ago, the resolution of the genetic map was 10 Mb (for some areas - even 5 Mb). Another area of research is the compilation of physical maps of chromosomes. Back in the 60s, cytogeneticists began to stain chromosomes to identify special transverse bands on them. After staining, the stripes were visible under a microscope. It was possible to establish a correspondence between the bands and genes, which made it possible to study chromosomes in a new way. Later, they learned to “tag” DNA molecules (with radioactive or fluorescent labels) and monitor the attachment of these tags to chromosomes, which significantly increased the resolution of their structure: up to 2 Mb, and then up to 0.1 Mb (during cell division). In the 70s, they learned to “cut” DNA into sections with special (restriction) enzymes that recognize short stretches of DNA in which information is written in the form of palindromes - combinations that are read the same from beginning to end and from end to beginning. This is how restriction maps of chromosomes arose. The use of modern physical and chemical methods and means has improved the resolution of physical maps hundreds of times. Finally, the development of sequencing methods (the study of the exact sequences of nucleotides in DNA) opened the way to the creation of sequence maps with a record resolution to date (these maps will indicate the position of all nucleotides in DNA). The number of chromosomes and their length vary among different species. Bacterial cells have only one chromosome. Thus, the genome size of the bacterium Mycoplasma genitalium is 0.58 Mb (it contains 470 genes), the bacterium Escherichia coli has 4200 genes (4.2 Mb) in its genome, and the plant Arabidopsis thaliana has 25 thousand genes. (100 Mb), the fruit fly Drosophila melanogaster has 10 thousand genes (120 Mb). The DNA of mice and humans contains 50-60 thousand genes (3000 MB). Of course, the same methods are not applicable to compiling maps of such different objects, so they use two different approaches in methodology: * in the first, they divide the DNA into small pieces and, having studied them separately, recreate the entire structure. This approach has been successful in compiling relatively simple kart; * for more complex genomes the second approach is more effective. In these cases, it is unwise to divide the DNA molecule into short pieces convenient for detailed study. There would be so many of them that the confusion in the sequences would be insoluble. Therefore, when starting to decipher, the molecule is divided, on the contrary, into the longest pieces possible and they are compared in the hope of finding common terminal sections. If this succeeds, the pieces are combined, after which the procedure is repeated. With the improvement of computers and mathematical methods of information processing, the pieces combined according to this principle become larger and larger, gradually approaching the whole molecule. This approach, in particular, made it possible to compile a genetic map of the 3rd chromosome of Drosophila. 3. Development of new technologies. An important aspect of the Human Genome Project is the development of new research methods. Even before the start of the project, a number of very effective methods of cytogenetic research were developed (now called first-generation methods). Among them: the creation and use of the mentioned restriction enzymes; obtaining hybrid molecules, cloning them and transferring DNA sections using vectors into donor cells (most often E. coli or yeast); DNA synthesis on messenger RNA templates; gene sequencing; copying genes using special devices; methods of analysis and classification of DNA molecules by density, mass, structure. In the last 4-5 years, thanks to the Human Genome Project, new methods have been developed (second generation methods), in which almost all processes are fully automated. Why did this direction become central? The smallest chromosome of human cells contains DNA 50 Mb long, the largest (chromosome 1) - 250 Mb. Until 1996, the largest section of DNA isolated from chromosomes using reagents had a length of 0.35 Mb, and with the best equipment their structure was deciphered at a speed of 0.05-0.1 Mb per year at a cost of 1-2 dollars. for the base. In other words, this work alone would have required approximately 30 thousand days (almost a century) and 3 billion dollars. Improvements in technology by 1998 increased productivity to 0.1 MB per day (36.5 MB per year) and lowered the cost up to $0.5 per base. The use of new electromechanical devices, which also consume less reagents, made it possible already in 1999 to speed up work another 5 times (by 2003, the decryption speed was up to 500 MB per year) and reduce the cost to $0.25 per base ( even cheaper for human DNA). 4. Results. Tasks for the future. Over the past six years, international data banks on nucleotide sequences in the DNA of different organisms (GenBank / EMBL / pBJ) and on amino acid sequences in proteins (PIR / SwissPot) have been created. Any specialist can use the information collected there for research purposes. The decision to make information freely available was not an easy one. Scientists, lawyers, and legislators have worked hard to prevent the intentions of commercial firms to patent all the results of the project and turn this field of science into a business. Deciphered genomes. 1995 - bacterium Hemophilus influenza;. 1996 - yeast cell (6 thousand genes, 12.5 MB); 1998 - roundworm Caenorhabditis elegans (19 thousand genes, 97 MB). The main results of the completed stages of the project are presented in the journal "Science" (1998. Vol. 282, No. 5396, R. 2012-2042). Studied human genes. During 1995, the length of human DNA sections with an established base sequence increased almost 10 times. But although progress was evident, the result for the year was less than 0.001% of what was to be done. But by July 1998, almost 9% of the genome had been deciphered, and then new significant results appeared every month. By studying a large number of gene copies in the form of cDNA and comparing their sequences with sections of chromosomal DNA, by November 1998, 30,261 genes (about half the genome) had been deciphered. Functions of genes. The results of the completed part of the project make it possible to judge the role of two-thirds of genes in the formation and functioning of organs and tissues of the human body. It turned out that the most genes are needed to form the brain and maintain its activity, and the least to create red blood cells - only 8. The data obtained made it possible for the first time to really evaluate the functions of genes in the human body. In the world, every hundredth child is born with some kind of hereditary defect. To date, about 10 thousand are known. various human diseases, more than 3 thousand of which are hereditary. Mutations have already been identified that are responsible for diseases such as hypertension, diabetes, some types of blindness and deafness, and malignant tumors. Genes responsible for one of the forms of epilepsy, gigantism, etc. have been discovered. Here are some diseases that arise as a result of damage to genes, the structure of which has been completely deciphered: * Chronic granulomatosis; * Cystic fibrosis; * Wilson's disease; * Early breast/ovarian cancer; * Emery-Dreyfus muscular dystrophy; * Spinal muscle atrophy; * Albinism of the eye; * Alzheimer's disease; * Hereditary paralysis; * Dystonia. Other organisms. When the research program for the project was being drawn up, we decided to first test the methods on simpler models. Therefore, at the first stage of the project, 8 different representatives of the world of microorganisms were studied, and by the end of 1998 - already 18 organisms with genome sizes from 1 to 20 Mb. These include representatives of many genera of bacteria: archaebacteria, spirochetes, chlamydobacteria, E. coli, pathogens of pneumonia, syphilis, hemophilia, methane-forming bacteria, mycoplasma, rickettsia, cyanobacteria. As already mentioned, genetic analysis of a single-celled eukaryote, the yeast Saccharomyces cerevisae, and the first multicellular animal, the worm C. elegans, has been completed. Gene damage and hereditary diseases. Of the 10 thousand known human diseases, about 3 thousand are hereditary diseases. They are not necessarily inherited (passed on to descendants). They are simply caused by disorders of the hereditary apparatus, that is, genes (including in somatic cells, and not just in reproductive cells). Identifying the molecular causes of gene “breakdown” is the most important result of the project. The number of studied disease-causing genes is growing rapidly, and in 3-4 years we will know all 3 thousand genes responsible for certain pathologies. This will help to understand the genetic programs for the development and functioning of the human body, in particular, to understand the causes of cancer and aging. Knowledge of the molecular basis of diseases will help their early diagnosis, and therefore more successful treatment. Targeted supply of drugs to affected cells, replacement of diseased genes with healthy ones, control of metabolism and many other dreams of science fiction writers are turning into real methods of modern medicine before our eyes. Molecular mechanisms of evolution. Knowing the structure of genomes, scientists will get closer to unraveling the mechanisms of evolution. In particular, such a stage as the division of living beings into prokaryotes and eukaryotes. Until recently, prokaryotes included archaebacteria, which differ in many ways from other representatives of this group of microorganisms, but also consist of only one cell without a separate nucleus, but with a DNA molecule in the form of a double helix. When the genome of archaebacteria was deciphered a year ago, it became clear that this is a separate branch on the evolutionary tree. Significant progress has been made in the practical field of creating new products for the medical industry and the treatment of human diseases. Currently, the pharmaceutical industry has gained a leading position in the world, which is reflected not only in the volume of industrial production, but also in the financial resources invested in this industry (according to economists, it entered the leading group in terms of the volume of purchase and sale of shares in the securities markets papers). An important novelty was that pharmaceutical companies included in their sphere the development of new varieties of agricultural plants and animals and spend tens of billions of dollars a year on this; they also monopolized the production of household chemicals, additives for construction industry products, etc. Not tens of thousands, but perhaps several hundred thousand highly qualified specialists are employed in the research and industrial sectors of the pharmaceutical industry, and it is in these areas that interest in genomic and genetic engineering research is extremely high. Taking into account the constant increase in the pace of work, the project leaders announced at the end of 1998 that the project would be completed much earlier than planned, and formulated tasks for the near future: 2001 - preliminary analysis of the human genome; 2002 - deciphering the genome of the fruit fly Drosophila melanogaster; 2003 - creation of complete maps of the human genome; 2005 - deciphering the mouse genome using cDNA methods and yeast artificial chromosomes. In addition to these goals, which are officially included in the international project supported by the United States and several other countries at the government level, some research centers have announced tasks that will be achieved primarily through grants and donations. Thus, scientists from the University of California (Berkeley), the University of Oregon and the F. Hutchinson Center for Cancer Research began deciphering the dog genome. The main strategic task for the future is to study DNA variations (at the level of individual nucleotides) in different organs and cells of individual individuals and to identify these differences. Typically, single mutations in human DNA occur on average per thousand unchanged bases. Analysis of such variations will make it possible not only to create individual gene portraits and, thereby, treat any diseases, but also to determine differences between populations and high-risk regions, draw conclusions about the need for priority cleanup of territories from certain contaminants, and identify industries that are dangerous for the genomes of personnel . However, along with the rosy expectations of the common good, this grandiose goal also causes quite conscious anxiety among lawyers and human rights activists. In particular, there are objections to the dissemination of genetic information without the permission of those concerned. After all, it’s no secret that today insurance companies are striving to obtain such information by hook or by crook, intending to use this data against those they insure. Companies are unwilling to insure clients with potentially disease-causing genes or charge exorbitant sums for their insurance. Therefore, the US Congress has already passed a number of laws aimed at strictly prohibiting the dissemination of individual genetic information. What forecasts will come true: optimistic or pessimistic - the near future will show... Conclusion. Almost all the goals that the project set for itself were achieved faster than expected. The project to decipher the human genome was completed two years earlier than planned. The project set a reasonable, achievable goal of sequencing 95% of DNA. The researchers not only achieved it, but also exceeded their own predictions and were able to sequence 99.99% of human DNA. The project not only exceeded all goals and previously developed standards, but also continues to improve the results already achieved. References 1. Carson R., Butcher J., Mineka S. Abnormal psychology. - 11th ed. - St. Petersburg: Peter, 2004. - 1167 pp.: ill. - (Series “Masters of Psychology”). 2. Knorre D.G. Biochemistry of nucleic acids // Soros educational journal. 1996 No. 3 pp. 10-11, 1998 No. 8 pp. 30-35. 3. Sekach M.F. Health psychology: textbook for higher education. - 2nd ed. - M.: Academic project: Gaudeamus, 2005. - 192 p. - ("Gaudeamus").