At the end of the 20th century, molecular technologies developed so intensively that the prerequisites were created for the systematic study of the structure of genomes. different types living beings, including humans. One of the most significant goals of these projects is to determine the complete nucleotide sequence of genomic DNA. Thus, a new science was born - genomics.
The beginning of the new millennium was marked by the largest discovery in the field of genomics - the structure of the human genome was deciphered. The news turned out to be so significant that it became the subject of discussion between the presidents of the leading countries of the world. However, many people were not impressed by this message. First of all, this is due to a lack of understanding of what a genome is, what is its structure and what does its decoding mean? Does this news have anything to do with medicine and can it affect each of us? What is molecular medicine and is its development related to deciphering the structure of the genome? Moreover, some people have fears that again a new discovery of scientists to humanity? Will this data be used for military purposes? Will this be followed by a general compulsory genetic examination - a kind of genetic passportization of the population? Will our genome be the subject of analysis and how confidential will the information obtained be? All these issues are currently being actively discussed in the scientific community.
Of course, genomics did not begin with humans, but with much more simply organized living beings. At present, the nucleotide sequence of the genomic DNA of many hundreds of species of microorganisms has been deciphered, most of which are pathogenic. For prokaryotes, the completeness of the analysis turned out to be absolute, that is, not a single nucleotide remains undeciphered! As a result, not only all the genes of these microorganisms are identified, but also the amino acid sequences of the proteins encoded by them are determined. We have repeatedly noted that knowledge of the amino acid sequence of a protein makes it possible to fairly accurately predict its structure and functions. It opens the possibility of obtaining antibodies to this predictive protein, its isolation from the microorganism and direct biochemical analysis. Let's think about what this means for the development of fundamentally new methods of fighting infections if the doctor not only knows how the genes of the infecting microorganism are arranged, but also what is the structure and function of all its proteins? Microbiology is now undergoing tremendous changes due to the emergence of a huge amount of new knowledge, the significance of which we currently do not fully understand. Apparently, it will take another decades to adapt this new information to the needs of mankind, primarily in the field of medicine and Agriculture.
The transition from prokaryotes to eukaryotes in terms of deciphering the structure of the genome is accompanied by great difficulties, and not only because the length of higher DNA is thousands, and sometimes hundreds of thousands of times longer, but its structure becomes more complex. Recall that a large number of non-coding DNA appears in the genome of higher animals, a significant part of which is repetitive sequences. They introduce significant confusion into the correct docking of already deciphered DNA fragments. And, besides, tandem repetitions themselves are difficult to decipher. In the area of localization of such repeats, DNA can have an unusual configuration, which makes its analysis difficult. Therefore, in the genome of one of the types of microscopic roundworm(nematodes) - the first multicellular organism for which it was possible to determine the nucleotide sequence of DNA - there are already a number of unclear places. True, their specific gravity is less than a hundredth of a percent of the total length of DNA, and these ambiguities do not concern genes or regulatory elements. The nucleotide sequence of all 19,099 genes of this worm, distributed over an area of 97 million base pairs, was completely determined. Therefore, the work on deciphering the nematode genome should be recognized as very successful.
Even greater success is associated with the deciphering of the Drosophila genome, which is only 2 times smaller than human DNA and 20 times larger than nematode DNA. Despite the high degree of genetic knowledge of Drosophila, about 10% of its genes were unknown until that moment. But the most paradoxical is the fact that the Drosophila, much more highly organized than the nematode, turned out to have fewer genes than the microscopic roundworm! It is difficult to explain from modern biological positions. More genes than in Drosophila are also present in the decoded genome of a plant from the cruciferous family - Arabidopsis, widely used by geneticists as a classic experimental object.
The development of genomic projects was accompanied by the intensive development of many areas of science and technology. So, a powerful impetus for its development received bioinformatics. A new mathematical apparatus was created for storing and processing huge amounts of information; supercomputer systems with unprecedented power have been designed; thousands of programs have been written that allow in a matter of minutes to carry out comparative analysis various blocks of information, daily enter into computer databases new data obtained in various laboratories of the world, and adapt new information to that which was accumulated earlier. At the same time, systems were developed for the effective isolation of various elements of the genome and automatic sequencing, that is, the determination of DNA nucleotide sequences. On this basis, powerful robots have been designed that significantly speed up sequencing and make it less expensive.
The development of genomics, in turn, has led to the discovery of a huge number of new facts. The significance of many of them has yet to be assessed in the future. But even now it is obvious that these discoveries will lead to a rethinking of many theoretical provisions concerning the origin and evolution various forms life on earth. They will help you better understand molecular mechanisms underlying the work of individual cells and their interactions; detailed deciphering of many hitherto unknown biochemical cycles; analysis of their connection with fundamental physiological processes. Thus, there is a transition from structural to functional genomics, which, in turn, creates the prerequisites for studying the molecular foundations of the cell and the organism as a whole. The information already accumulated will be the subject of analysis over the next few decades. But every the next step in the direction of deciphering the structure of the genomes of different species, generates new technologies that facilitate the process of obtaining information. Thus, the use of data on the structure and function of the genes of lower organized species of living beings can significantly speed up the search for specific genes of higher ones. And even now, computer analysis methods used to identify new genes often replace rather laborious molecular methods of gene search.
The most important consequence of deciphering the structure of the genome of a certain species is the possibility of identifying all its genes and, accordingly, identifying and determining the molecular nature of the transcribed RNA molecules and all of its proteins. By analogy with the genome, the concepts were born transcriptome, which unites the pool of RNA molecules formed as a result of transcription, and proteome, which includes many proteins encoded by genes. Thus, genomics creates the foundation for the intensive development of new sciences - proteomics and transcriptomics. Proteomics deals with the study of the structure and function of each protein; analysis of the protein composition of the cell; determination of the molecular basis of the functioning of a single cell, which is the result of the coordinated work of many hundreds of proteins, and the study of the formation of the phenotypic trait of an organism, which is the result of the coordinated work of billions of cells. Very important biological processes also occur at the RNA level. Their analysis is the subject of transcriptomics.
The greatest efforts of scientists from many countries of the world working in the field of genomics were aimed at solving the international project "Human Genome". Significant progress in this area is associated with the implementation of the idea proposed by J.S. Venter, to search for and analyze expressed DNA sequences, which can later be used as a kind of "labels" or markers for certain parts of the genome. Another independent and no less fruitful approach was taken by the work of the group headed by Fr. Collins. It is based on the primary identification of genes for human hereditary diseases.
Deciphering the structure of the human genome led to a sensational discovery. It turned out that the human genome contains only 32,000 genes, which is several times less than the number of proteins. At the same time, there are only 24,000 protein-coding genes; the products of the remaining genes are RNA molecules. The percentage of similarity in DNA nucleotide sequences between different individuals, ethnic groups and races is 99.9%. This similarity is what makes us human. Homo sapiens! All our variability at the nucleotide level fits into a very modest figure - 0.1%. Thus, genetics leaves no room for ideas of national or racial superiority.
But, look at each other - we are all different. National, and even more so, racial differences are even more noticeable. So how many mutations determine the variability of a person not in percentage terms, but in absolute terms? In order to get this estimate, you need to remember what the size of the genome is. The length of a human DNA molecule is 3.2 x 10 9 base pairs. 0.1% of this is 3.2 million nucleotides. But remember that the coding part of the genome occupies less than 3% of the total length of the DNA molecule, and mutations outside this region, most often, do not have any effect on phenotypic variability. Thus, to obtain an integral estimate of the number of mutations that affect the phenotype, you need to take 3% of 3.2 million nucleotides, which will give us a figure of the order of 100,000. That is, about 100 thousand mutations form our phenotypic variability. If we compare this figure with the total number of genes, it turns out that on average there are 3-4 mutations per gene.
What are these mutations? Their vast majority (at least 70%) determines our individual non-pathological variability, what distinguishes us, but does not make us worse in relation to each other. This includes features such as eye, hair, skin color, body type, height, weight, type of behavior, which is also largely genetically determined, and much more. About 5% of mutations are associated with monogenic diseases. About a quarter of the remaining mutations belong to the class of functional polymorphisms. They are involved in the formation of hereditary predisposition to widespread multifactorial pathology. Of course, these estimates are rather rough, but they make it possible to judge the structure of human hereditary variability.
Sections of genomics
Definition of genome and genomics.
Introduction to genomics.
First of all, let's define the concept of "genome". There are several definitions of the genome. AT encyclopedic dictionary“Genetics” by N.A. Kartel et al. gives two definitions of the genome. First, the genome is understood as the totality of the haploid set of chromosomes of a given type of organism. And, secondly, it is the entire genetic material of an individual virus, cell or organism that is not alloploid. In our presentation, we will proceed from the fact that the genome of a cell is the entire set of DNA located in the nucleus and mitochondria (plastids) of this cell or organism. This definition is often used in works related to the study of the genome.
The structure and function of the genome studies special science – genomics.
Advances in the study of the human genome became most noticeable in connection with the development and subsequent implementation of the international project "Human Genome". This international project brought together hundreds of scientists from different countries and was carried out from 1989 to 2005. The main directions of the project are gene mapping (determining the localization of genes in chromosomes) and DNA or RNA sequencing (the order of nucleotides in DNA or RNA). The initiator of this movement from the very beginning was the laureate Nobel Prize scientist J. Watson. In Russia, academician Baev A.A. became such an enthusiast. Over $6 billion was spent on the project. Russia's material costs were so modest that they are not taken into account in the overall cost calculation. Despite this, Russian scientists conducted research on mapping chromosomes 3,4,13 and 19. The project made it possible to completely decipher the nucleotide sequence in the human genome. In fact, this was the first stage - structural. The second stage, which was called functional, will be associated with deciphering the function of the gene. The results obtained in the field of genome research formed the basis of the first textbook for universities "Genomics" published in the USA by C. Cantor and C. Smith in 2000.
Genomics is divided into five independent sections.
Structural genomics studies the sequence of nucleotides in the genome, determines the boundaries and structure of genes, intergenic regions, promoters, enhancers, etc., i.e. actually takes part in the preparation genetic maps organism. It is estimated that the human genome consists of 3,2 billion nucleotides.
functional genomics identifies the function of each gene and genome region, their interaction in the cellular system. One of critical tasks genomics to create the so-called "gene network"- interconnected work of genes. For example, the gene network of the hematopoietic system includes at least 500 genes. They are not only interconnected, but also associated with other genes.
Comparative genomics studies similarities and differences in the organization of genomes different organisms.
Evolutionary genomics explains the evolution of genomes, the origin genetic polymorphism and biodiversity, the role of horizontal gene transfer. As applied to humans, as well as to any organism, we can say that human evolution is the evolution of the genome.
medical genomics solves applied problems of clinical and preventive medicine based on knowledge of human genomes and pathogenic organisms.
Human genomics is the basis molecular medicine and its achievements are used in the development effective methods diagnosis, treatment and prevention of hereditary and non-hereditary diseases. If earlier it was assumed that hereditary pathology is associated with certain genes or regulatory zones, now, everything more attention attract nucleotide sequences located in intergenic gaps. They were considered "silent" for a long time. Currently, more and more information is accumulating about their influence on gene expression.
Studies in the field of the genome once again confirmed the need for an individual approach to the prevention and treatment of diseases. Of considerable interest to medicine are studies related to the compilation of a "gene network" - schemes for the interaction of genes with each other at the level of protein products. These studies contributed to the creation within the framework of genomics new science – proteomics, which studies the protein landscape of the cell in various modes of gene functioning. The obtained results clearly show the feasibility of an individual approach to the treatment of the disease. Now proteomics is independent science closely related to genomics.
In this regard, it should be emphasized that the thesis “to treat not the disease, but the patient” has received significant confirmation in numerous studies of the genome and proteins. Based on them, the priority of this provision in medical practice has ceased to be in doubt.
Although genomics as a science appeared relatively recently, several stages can already be distinguished in its development.
Stage 1. 1900 - 1940 At this stage, the Mendelian signs of a person are studied. Research method - genealogical analysis. The systematic study of the human genome actually began with the development of Mendelian analysis. hereditary traits in animals in the early 20th century. As applied to humans, it was a genealogical method for studying hereditary traits. At this stage, scientists have mainly identified mandelian signs of a person and came close to the description clutch groups. About 400 Mendelian signs of a person and 4 linkage groups have been found. Since the 1950s, the discovery of linkage groups and Mendelian characters has been slowing down. Currently, the genealogical method for studying the human genome in pure form exhausted himself.
Stage 2. 1940 - 1980 The stage of studying linkage groups. Methods of study - genealogical, cytogenetic and method of hybridization of somatic cells. Significant progress in human cytogenetics, especially the genetics of somatic cells in the 60s, in combination with the genealogical approach, put the study of the human genome on new theoretical basis. Implementation into practice scientific research biochemical and immunological methods significantly accelerated not only the discovery of new Mendelian traits, but also facilitated the process of decoding new ones in the human genome linkage groups of genes. Unfortunately, knowledge of linkage groups still does not allow determining the exact localization of genes in chromosomes. And the last, necessary for the successful development genetic engineering and related practical problems in the field of medicine, agriculture, etc. Therefore, the number of studies in the field of gene mapping (mapping) is starting to increase dramatically.
3stage. 1980 to today. The stage of studying the localization of genes in the genome and deciphering their nucleotide sequence. The method of study is biochemical, immunological. This stage began to take shape in the 1980s with the development of molecular genetic methods and genetic engineering technologies. The process of cognition of the genome deepened to the isolation gene in its pure form and its sequencing (establishment of the nucleotide sequence). In the United States and Great Britain, automated genome sequencing devices have been developed and implemented. They were named genomotrons. They carry out more than 100,000 polymerase reactions per hour. Big role at this stage, computer technology and Information Systems. Thanks to them, the issues of accumulation of information from different sources, its storage and operational use by researchers from different countries are solved.
By 1980, the genome of one of the bacteria was completely mapped; in 1986, mapping of the DNA of a yeast cell was completed; in 1998, the genome of a roundworm was completely mapped, etc. To date, the determination of the base sequence in the DNA of more than 50 representatives of the animal world (mainly with a small genome size - pathogens of pneumonia, syphilis, rickettsia, spirochete, yeast, roundworm, etc.) has been completed. ending similar work and for the human genome. Described more than 19 thousand various diseases people, of which about 3 thousand are hereditary diseases.
One of the interesting initiatives in the field of genomics is to create artificial DNA that would contain a minimum set of genes, required cage for autonomous existence. It is estimated that this will require about 350 - 450 genes.
At present, the entire nucleotide sequence of the human genome has been decoded, the following task is being solved - the study of single nucleotide variations of DNA in different bodies and cells of individual individuals and identifying genetic differences between individuals. This will allow us to proceed to the creation of genetic portraits (maps) of people. On the one hand, this will help to treat diseases more successfully, on the other hand, it raises a number of serious questions. For example, Insurance companies can use information from the genetic card of the carrier applying for insurance recessive gene illness, to drive up prices for his insurance.
On the other hand, it is assumed that at the next stage in the development of genomics, a significant place will be occupied by research related to deciphering functional characteristics all coding and non-coding regions of the genome as applied to an individual.
Individual approach to the study of the structure and function of the human genome, is likely to be the lead in the development of this area of genetics.
The international project "Human Genome", in which several thousand scientists participated, ended in 2000. However, research in this direction does not stop. It was one of the most costly projects in the history of civilization, costing over $500 million a year.
Unfortunately, Russia has suspended its contribution to the international project "Human Genome".
AT A small adeno-associated virus (AAV) is being considered as a potential vector because, unlike adenoviruses, it does not cause disease. However, it does not carry the gene as well. To improve it as a vector, experiments on irradiation and chemical modification are being carried out. Other laboratories are experimenting with CFTR retroviruses, as these viruses naturally insert their genome into host cells.
However, the question remains whether normal synthesis of the CFTR protein will eliminate bacterial infections of the lungs, which account for 90% of morbidity and mortality. There is every reason to hope that genetic engineering will successfully cope with this task. A protein in the lungs, whose function is to destroy foreign cells, is not activated at an increased salt concentration (namely, this is what characterizes cystic fibrosis); but as soon as the CFTR begins to produce its product, the salt concentration decreases and the protein is activated.
AT gene therapy methods are currently being developed for the treatment of other hereditary diseases. So, in case of violations of the function of blood cells, they can be converted in a culture medium and introduced into
the patient's bone marrow natural environment. Undoubtedly, some of the developments will be crowned with success and become common medical practice in the coming years.
All these facts are examples of the so-called somatic gene therapy, that is, they are applied to the body (some) of the patient in the hope that a sufficient number of cells will be obtained that can perform normal functions. The patient may recover, but the risk of passing unwanted genes to offspring still remains, because germ cells are not modified in this way. germ cell therapy aims to modify the entire organism, including the glands that produce sex cells. The simplest (theoretically) way is to modify the fertilized egg by introducing a suitable transgene into it. This kind of procedure is already possible and has been successfully carried out in experimental animals, such as mice. But can it be applied to a person and, most importantly, is it worth it? This is a serious ethical issue, and some moralists argue that if somatic gene therapy is ethical, then playing with the human genome and changing the gene set of our descendants is unacceptable, so such procedures should be banned.
Genomics - the study of the whole genome
Latest advances in sequencing and development technical means for processing a large number clones in the gene library allowed scientists to study the entire genome of an organism at once. Full sequences of many species have now been determined, including most of the so-called model genetic organisms such as E. coli, roundworm Caenorhabditis elegans;
and, of course, the classic object of genetics, the fruit fly Drosophila melanogaster. In the 1990s, despite a number of turmoil and controversy, a project to study the human genome (“Human Genome”) was launched, funded by the National Institutes of Health. In February
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2001 large group Researchers led by J. Craig Venter from the private laboratory Celera Genomics made a statement about the preliminary decoding of the human genome. The result of their work was published on February 16, 2001 in the journal Science.
Another version, submitted by a group from the International Human Genome Sequencing Consortium, was published on February 13, 2001 in the journal Nature.
The birth of genomics can be considered the middle of the 20th century, when geneticists mapped all the chromosomes of model organisms based on the frequency of recombinations (see Chapter 8). However, these maps showed only those genes for which mutant alleles were known, and therefore such maps cannot be called complete. Complete DNA sequencing allows you to locate all the genes in an organism, as well as establish the sequence of bases between them.
Genomics is divided into structural and functional. Structural genomics aims to find out exactly where certain genes are located in chromosomal DNA. Computer programs recognize the typical beginnings and ends of genes, selecting those sequences that are most likely to be genes. Such sequences are called open reading frame(open
reading frame, OFR ). The same computer programs can also recognize typical introns in OFR sequences. After the introns are isolated from the potential gene, the computer uses the remaining code to determine the sequence of amino acids in the protein. Then these potential proteins are compared with those proteins whose functions are already known and whose sequences are already entered into the database. Thanks to this kind of programs, the so-called evolutionary conservatism: that for most genes in different organisms there are similar genes. From positions evolutionary development this similarity is understandable: if the protein of any one species well adapted for its functions, then its gene is transmitted in the same form or with small changes to species derived from the initial. Evolutionary conservatism allows the identification of genes related to a given gene in other organisms. By comparing the resulting gene with those already known, it is often possible to determine its function, necessarily checking it in subsequent experiments.
Once all potential genes have been identified, the genetic mapping begins. The human genetic map is a rather confusing and motley diagram, since each gene is marked with a certain color depending on its function, which is established in comparison with other known genes. Most human genes, like the genes of all eukaryotes in general, have large introns. According to rough estimates, among the published sequences, about a third or a quarter are introns. Curiously, only about 1.5% of the total human genome (about 2.9 x 109 pairs
bases) contain sequences (exons) that code for proteins. Also, this DNA only seems to contain 35,000-45,000 genes, which is less than predicted. We have yet to understand how a relatively small number of genes code for such a complex organism.
Two-thirds to three-quarters of the genome is in the vast
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The number of copies of repetitive DNA in different people is not the same, so they can be used to establish the identity, including in forensic medicine.
functional genomics
functional genomics is the study of gene function at the level of the entire genome. Although potential genes can be identified by their similarity to genes that perform known functions in other organisms, all guesses should be tested against the organism under study. In some model organisms, such as nutritional yeast, it is possible to systematically turn off the function of genes in turn. Turning off a gene occurs by replacing it functional form erased shape on a special vector. Then get a strain with a disabled gene and evaluate its phenotype. In an ongoing program to analyze the nutritional yeast genome, several thousand genes have been turned off one by one.
Another method of functional genomics is that they study the mechanism of transcription at the level of the entire genome. This method based on the assumption that most biological phenomena represent complex processes involving many genes. Of particular interest to researchers are the processes associated with the development of the organism, which we mentioned in Chap. 11. If the transcription of genes is studied under different growth conditions, then one can get an idea of the complete genetic pathways of an organism's development.
But how can transcription be studied at the genome-wide level? Again, new technologies help scientists in this. The DNA of each gene in the genome or some part of the genome is placed on the surface of small glass plates arranged in order. Then they are exposed to all types of mRNA found in the cell of this organism. DNA on the plates is obtained in two
ways. In one method, all mRNAs are reverse transcribed to produce short complementary DNA molecules corresponding to a single gene. In another way, genes (or parts of genes) are synthesized one base at a time in certain areas of the plates. Synthesis is carried out by robots that open and close
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glass surface in a certain order. Records with the genome of many organisms can be purchased from chemical companies.
To study the mechanism of transcription, all mRNAs of a certain stage of development are labeled with a fluorescent label and distributed over the surface of the plates. These mRNAs attach to their respective DNA and can be recognized by their glowing patches. Since the position of each individual gene's DNA on the plates is known in advance, the computer determines which genes are transcribed at a given developmental stage.
So, with the help of these and other technologies, geneticists are beginning to figure out the general models of the organization of living things from functional and structural side. To process a huge amount of information, a special branch of science appeared - bioinformatics. The coming decades promise to be a time of truly great discoveries.
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First draft, 2003 - completion of the project). Its development became possible not only due to the improvement of biochemical methods, but also due to the emergence of more powerful computing technology, which made it possible to work with huge amounts of data. The length of genomes in living organisms is sometimes measured in billions of base pairs. For example, the human genome is about 3 billion base pairs. The largest known (at the beginning of 2010) genomes belongs to one of the lungfish species (approximately 110 billion pairs).
Sections of genomics
Structural genomics
Structural genomics - the content and organization of genomic information. It aims to study genes with a known structure in order to understand their function, as well as to determine spatial structure the maximum number of "key" protein molecules and its influence on interactions.
functional genomics
Functional genomics is the implementation of the information recorded in the genome from the gene to the trait.
Comparative genomics
Comparative genomics (evolutionary) - comparative studies content and organization of the genomes of different organisms.
Obtaining complete genome sequences has shed light on the degree of differences between the genomes of different living organisms. The table below presents preliminary data on the similarity of the genomes of different organisms with the human genome. The similarity is given as a percentage (reflecting the proportion of base pairs that are identical in the two compared species).
| View | similarity | Notes and sources |
|---|---|---|
| Human | 99,9 % | Human Genome Project |
| 100 % | identical twins | |
| Chimpanzee | 98,4 % | Americans for Medical Progress; |
| 98,7 % | Richard Mural of Celera Genomics, quoted on MSNBC | |
| Bonobo, or pygmy chimpanzee | The same as for chimpanzees. | |
| Gorilla | 98,38 % | Based on the study of intergenic non-repetitive DNA (American Journal of Human Genetics, February 2001, 682, pp. 444-456) |
| Mouse | 98 % | |
| 85 % | when comparing all sequences encoding proteins, NHGRI | |
| Dog | 95 % | Jon Entine at the San Francisco Examiner |
| C.elegans | 74 % | Jon Entine at the San Francisco Examiner |
| Banana | 50 % | Americans for Medical Progress |
| Narcissus | 35 % | Steven Rose in The Guardian January 22 |
Examples of the application of genomics in medicine
In a Wisconsin hospital, a child in age three years for a long time baffled doctors, his intestines were swollen and completely riddled with abscesses. By the age of three, this child had experienced more than a hundred separate surgeries. For him, a full sequence of the coding regions of his DNA was ordered, according to the results, with the help of improvised means, the culprit of the disease was identified - the XIAP protein involved in the signal chains of programmed cell death. At normal operation it plays a very important role in immune system. Based on this diagnosis, the physiologists recommended bone marrow transplantation in June 2010. By mid-June, the child was already able to eat for the first time in his life.
Another case was associated with an atypical cancer in a 39 year old woman suffering from acute form promyelocytic leukemia. With standard diagnostic methods, however, the disease was not detected. But when deciphering and analyzing the genome cancer cells it turned out that a large section of the 15th chromosome moved to the 17th, which caused a certain gene interaction. As a result, the woman received the treatment she needed.
Notes
see also
Links
- Tishchenko P.D. Genomics: a new type of science in a new cultural situation.
- Complete Microbial Genomes (completely decoded genomes of bacteria and archaea).
| Genomics | |
|---|---|
| Genome Project Paleopolyploidy Glycomics Human Genome Project Proteomics Metabolomics Chemogenomics Structural Genomics Pharmacogenetics Pharmacogenomics Toxicogenomics Computational Genomics Bioinformatics Chemoinformatics Systems Biology |
Wikimedia Foundation. 2010 .
Synonyms:See what "Genomics" is in other dictionaries:
genomics- * genomics * genomics is a new direction of genetics, the science of genomes, including the study of their structure, functioning and evolution at the molecular, chromosomal, biochemical, physiological levels. One of the tasks of structural G. is ... ... Genetics. encyclopedic Dictionary
Exist., number of synonyms: 1 genetics (11) ASIS synonym dictionary. V.N. Trishin. 2013 ... Synonym dictionary
genomics- A science that studies all genes and their role in the structure of the body, both in a normal state and in a disease Subjects of biotechnology EN genomics ... Technical Translator's Handbook
Genomics- reading the genome, in particular, of a person, and related scientific and technical activities: ஐ It is obvious that it was easier to come up with impunity to differentiate directions in technobiology, since calling for plagiarism and even improvement ... ... Lem's world - dictionary and guide
genomics- Genomics Genomics The study of the entire set of genes that make up an organism ... Explanatory English-Russian dictionary on nanotechnology. - M.
genomics- genomika statusas T sritis augalininkystė apibrėžtis Nauja genetikos kryptis, kuri apima genomo individualių genų molekulių lygyje, geno sandaros, jo raiškos, aktyvumo reguliavimo mechanizmo ir genų panaudojimo genų inžinerijos tikslams… … Žemės ūkio augalų selekcijos ir sėklininkystės terminų žodynas
Branch of genetics that studies the structure and functioning of the genome decomp. organisms with the help of biol., physical. chem. and computer methods … Natural science. encyclopedic Dictionary
genomics- gene omics, and... Russian spelling dictionary
Genomics- a section of genetics, the subject of which is the study of the principles of building genomes and their structural functional organization … Dictionary of Psychogenetics
Seeks to describe the three-dimensional structure of each protein encoded by a given genome. A combination of experimental and modeling approaches is used. Fundamental difference between structural genomics and traditional structural ... ... Wikipedia
Books
- Clinical genetics. Genomics and proteomics of hereditary pathology. Tutorial. Vulture UMO on classical university education, Mutovin Gennady Romanovich. The book discusses the main provisions and concepts of clinical genetics, taking into account the results of the international scientific program `Human Genome` (1988-2005). History, provisions,…
(on the English language Genomics is the science that studies genomes. The amount of genomic information has increased dramatically in last years due to advances in DNA sequencing technology. GenBank, the NIH (US National Institutes of Health) database, as of April 2011, contains 135,440,924 DNA sequences.
The year 1956 became fundamental in the process of research in human genetics, since the science of chromosology was created in this year, and a congress on human genetics was held in Copenhagen.
The evolution of any science is due to the refinement of models and theories, but new assumptions do not cancel old truths, so that what was true yesterday is not necessarily false today. Only pseudo-sciences are immutable for centuries and take pride in this as if it were a kind of guarantee of quality.
We are besieged on all sides by the many disciplines, old and new, which teach medical practices with exceptional results, revolutionary devices for measuring negative and positive abilities.
At present, there is no sector in science that has not been explored somewhere and by someone in the world: every day, giant research centers at universities, private institutes and even small laboratories disseminate great amount new information about latest research and additions to them. Sometimes this information is quite eccentric, for example in sectors such as invisibility, the sexual behavior of flies in China, or the molecular weight of smells, and in areas that leave room for fascinating scenarios, such as those related to the construction of life in a laboratory or the discovery of new planets that could take this new life.
Pioneering the race to extend human lifespan is Craig Venter, the geneticist, entrepreneur and philanthropist behind the Human Genome Project, who said in March this year that his latest genomics project would use $70 million in capital to create new company with the name Human Longevity Inc (HLI). Venter is not alone in his ambitions. For example, Calico (California Life Company) has goals of improving people's health, solving the problem of aging and associated diseases, and the University of California, San Diego - where they will section the cancer genome and HLI tumors to all patients suffering from cancer and who will give it your consent.
Since the first sequencing in 2011, genomics has progressed rapidly, and now cancer scientists will be moving to new level"the next frontier in science," says Lipman, director of the California Institute. “We are now in a period that will equate historically for the genomics of cancer cell sectioning to the 90s for the development of the Internet. We are studying genome and sectioning technologies in the hope that this scale can be achieved fast results. What used to take 15-20 years can now actually be achieved in 1-2 years. The fight against cancer is evolving rapidly and this is just the tip of the iceberg."
Facts from the field of genomics:
. In April 2003, the Human Genome Project was completed after 13 years of research. 2.7 billion dollars were invested in this project.
. In December 2005, the Cancer Genome Atlas, a 3-year, $100 million pilot project, was launched to study the genetic makeup of cancer cells.
. In May 2007, the genome of James Watson, one of the discoverers of DNA, was "sequenced" in its entirety at a cost of up to one million dollars.
. Since the end of last year, 23andMe has been providing genome sequencing for as little as $1,000.
. Currently, the Human Genome Project is ongoing. After sequencing, about three billion base pairs were found that make up DNA. The ENCODE (Encyclopedia of DNA Elements) project, born from an international collaboration of more than 80 countries and 35 research groups, promises the first interpretation of information to describe the behavior of the genome.
Researchers were able to understand how and where certain biological functions arise, challenging various dogmas and re-evaluations of what until yesterday was considered "unwanted" DNA or not coded (inactive) DNA. "The new data show that the genome contains very few sections that are not being used," the Consortium and the European Lab said in a statement. molecular biology(EMBL-EBI), who led the study with the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH) in the United States. The refutation of the myth of genetic determinism by the Human Genome Project marks the beginning of a new post-genomic era.
New cultural situation
Until recently, the "design" of man, that is, the creation of all his characteristics, was entrusted to nature, no one could intervene to improve the human being.
Every new organism is born from a small cell. He inherits the ancestral program in the form of DNA, but does not inherit the physical bodies of his ancestors. He inherits the heart of his parents, but he has a new heart. Everything starts from scratch, from one cell, but from each new life the DNA program can get both improvements and deteriorations.
Before assessing the effect of genomics, it should be noted that it would be impossible, and even irresponsible, to abandon genetic manipulation methods just because these methods can be used by unscrupulous and selfish people for their own purposes.
No one government agency doesn't have that magic wand that could make all genomics technologies disappear. Main question The development of genomics is not to think about how to block this progress, but rather how to get the maximum benefit and minimize the risks.
Assessing the possibilities of genomics in terms of therapeutic possibilities and in the field of improving the genetic background depends on ethical principles to be taken as a guide.
For those who are supporters of human reproduction "under supervision" and who are ready to accept as a fact, the possibility of using artificial methods will be very easy to accept and genetic manipulation, but for someone, this will be unacceptable.
Going beyond the principles from which science is based, humanity must keep in mind that all genomics technologies used on humans have a human being in the foreground. This factor raises many question marks, including the question of what effect genetic engineering can have on the balance of the ecosystem and the morality of the person himself, who is ultimately the beneficiary of such a science as genomics.
Before talking directly about the consequences that genetic manipulations can have, we clarify that the desire to improve the design of a human being, before birth, is primarily direct influence on selection, that is, "the removal of what is different, what is not perfect, it turned out unsuccessfully." It's like throwing a failed embryo in the trash during an IVF procedure.
In the environment of such a science as genomics, we can talk about the possibility of founding the new kind services, a "gene service", which will have to satisfy the human desire to improve their gene pool. This service, most likely, will be paid with state support or strictly commercial, where each person, provided that he is solvent, will be able to correct his genetic information.
But the existence of this "service" will be impossible without technical progress and some change in the mentality of man.
Like any drug, new genomics technologies can be used for "serum to gene" where there are short-term or long-term risks. There is always a risk that genes will be eliminated that have as yet unknown positive aspects and that may show up in different environments. For example, the same gene that causes sickle cell anemia makes the body more resistant to malaria.
With respect to gene therapy, we must assume changes in germ cells as a consequence of somatic gene therapy. In certain circumstances this may be legal (it should be assessed whether such individuals can be allowed to reproduce after treatment or not), since the modification of germ cells for treatment may lead to changes in the genetic heritage of future generations. Gene therapy of embryos is also developing and there is a need to conduct experiments on embryos. Naturally, before success is achieved in these studies, there will be many failures, which implies that the object of study will die. Yes, in the name of science and for the benefit of future generations, these sacrifices can be justified, but this cannot be justified from an ethical point of view.
