Presentation on the topic of genomic projects. Human genome and environment

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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 a 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%).

Content
- Introduction.
- Chapter I.
- Background and reasons for development
- International Human Genome Project.
- Chapter II.
- Stages of implementation of the International project.
- Chapter III.
- Results of the International Human Genome Project.
- Conclusion.
- International Human Genome Project in practice
school education.
- Bibliographic list.

introduction

INTRODUCTION
1. Topic. "International Human Genome Project."
2. Problem. To identify the significance of the international project “Genome”
human" for the development of school science.
3. Relevance of the research topic: Currently,
Research in the field of biology and
medicine. The international Human Genome Project is one of
most expensive and potentially important projects in history
Sciences. Knowledge of the human genome will make an invaluable contribution to the development
medicine and human biology. The results of this project will allow
better understand the principles of development of the human body, genetic
causes of many hereditary diseases and mechanisms of aging.

4. Object and subject of research. Object of study
is an international project. Subject of study:
the role and functions of the international project in science.
5. Goals and objectives. Goal: determining the significance of this
project for science and practical activities. Tasks:
- study the history of the latest discoveries in the field of genetics;
- identify the specifics of the “Human Genome” project;
- get acquainted with the main methods used in
within the framework of the implementation of an international project;
- study discoveries in the field of biology and medicine that have made
contribution to an international project;
- study the results of international

6. Research methods:
study of literature;
theoretical analysis;
synthesis of information.
7. Research stages:
topic formulation;
problem formulation;
setting goals and objectives;
selection of information sources on the topic (literature, periodicals
publications, Internet resources);
analysis of sources of information on the topic;
working with information sources;
preparation of project chapters;
design of the project: printed version, presentation;
work report: presentation at the regional conference.

8. Practical significance. Research
“The International Human Genome Project is contributing to
development of school science, since the study of scientific discoveries
is not always included in the school curriculum, but are very
interesting and educational, contribute to the expansion
outlook, holistic perception of nature, formation
scientific picture of the world.

Chapter I. Prerequisites and reasons for the development of the International Human Genome Project.

CHAPTER I.
BACKGROUND AND REASONS FOR DEVELOPMENT
INTERNATIONAL HUMAN GENOME PROJECT.
The progress of biological sciences in the 20th century was unusually great.
The most important event was the emergence of molecular biology. According to
scientists, if the 20th century was the century of genetics, then the 21st century will be the century of genomics
(the term was introduced in 1987) - a science that studies the structural and functional organization of the genome. The end of the 20th century was marked
development of the international scientific program “Human Genome”, one of the most expensive scientific projects in history
humanity.

Its global goal is to find out the sequence of nucleotides in all
human DNA molecules (DNA of 1 human cell contains 3.2 billion pairs
nucleotides).
At the same time, the position of all genes, their functions,
mutual influence on each other.
For implementation, goals for step-by-step work were identified:
complete sequencing of the human genome;
identification of new genes and identification among them of those that
determine predisposition to certain diseases;
possibility of personal identification;
implementation of the idea of a “genetic passport”;
detection of single nucleotide polymorphism;
search for new methods of treating diseases;
determination of the nucleotide sequence of the entire human genomic DNA;
identifying the molecular causes of gene “breakdown”.

The original idea for the project originated in 1984 among a group of physicists.
In 1988, the Joint Committee, which included the Ministry
US Energy and National Institutes of Health,
presented an extensive project, the tasks of which included
comprehensive study of genetics
The project is a striking example of the integration of natural sciences,
showing their unity and interconnection.

Chapter II. Stages of implementation of the International project

CHAPTER II.
STAGES OF IMPLEMENTATION OF THE INTERNATIONAL PROJECT
Participating countries: England, France, Japan, Russia, USA, Italy, France,
Great Britain, Germany.
In 1989, a scientific council was organized in our country for the “Genome” program
person."
The International Organization for Genome Research was created in 1990.
person (HUGO), of which he was vice president for several years
Academician A.D. Mirzabekov.

All 23 human chromosomes were divided among the participating countries.
Russian scientists had to study the structure of the 3rd and 19th chromosomes.
The sequencing speed increased every year, and if in the first years it
amounted to several million nucleotide pairs per year around the world, then
At the end of 1999, the private American company Celera deciphered at least 10
million nucleotide pairs per day.
On April 6, 2000, a meeting of the US Congress Committee on Science was held at
in which Venter stated that his company had completed deciphering the nucleotide
the sequences of all significant fragments of the human genome and that
preliminary work on compiling the nucleotide sequence of all
genes is completed.

Difficulties arising during the implementation of the project:
Humans are not suitable for carrying out genetic research on
for the following reasons:
a large number of chromosomes (23 pairs);
many genes (about 100 thousand);
impossibility of directed crosses;
long periods of puberty;
long periods of pregnancy;
few offspring.

Geneticists expected to find 100 thousand in the human genome.
genes, and there were about 21 thousand of them. But, to my surprise,
Along with them, scientists have discovered other auxiliary
molecules – transcription factors, small RNAs, protein regulators

Chapter III. Results of the International Human Genome Project

CHAPTER III.
RESULTS OF THE INTERNATIONAL GENOME PROJECT
MAN"
All 3.2 billion base pairs have been sequenced, but because
Only relatively short fragments can be sequenced
DNA, then you need to “assemble” these fragments together. Currently
time, nucleotide sequences were established more than
for 38.5 thousand genes.
During the implementation of the program, data was obtained on
the functions of many genes and how many different genes are involved in
formation of individual organs and tissues.
A large number of genes, mutations have been mapped and sequenced
which are responsible for hereditary diseases.

Conclusion The international project “Human Genome” in the practice of school education

CONCLUSION
INTERNATIONAL HUMAN GENOME PROJECT IN SCHOOL PRACTICE
EDUCATION
Research work "International Genome Project
human" contributes to the development of school science, since
Studying the latest scientific discoveries contributes to:
- expanding your horizons,
- holistic perception of nature,
- formation of a scientific picture of the world,
- formation of a complex of knowledge in the field of theoretical foundations
scientific research,
- developing the ability to analyze the structure of scientific works,
- studying the directions of development of modern science,
- developing skills in applying scientific knowledge.

Speaking about the relevance of research work
schoolchildren, it should be noted that the conceptual basis
modern school specialized education should become
a systematic scientific approach that combines both
academic science and the methodology of school education.

“Human Genome” - 1. REPRESENTED ABOUT 3.2 MILLION. CONTRIBUTION OF THE GENOMIC LEVEL TO THE PHENOMENA OF HERITAGE AND BIOLOGICAL VARIATION (CONTINUED 1) -. GENOME and HUMAN HEALTH -. GENOME and HUMAN HEALTH. GENOMIC MUTATIONS. LECTURE 7. GENOMIC LEVEL OF ORGANIZATION OF THE GENETIC APPARATUS. GENOMES OF HUMAN AND OTHER ANIMAL SPECIES (COMPARATIVE EVOLUTIONARY ASPECT) -.

“Inheritance by interaction of genes” - Segregation in F1 is 1: 4: 6: 4: 1. An example of a polymer. III group. Problem: Inheritance of flower color in sweet peas. In F1 the split is 15:1. Inheritance of plumage color in chickens. Group II. Non-cumulative polymer. Cumulative. Write down the variant genotypes in people of average height. Yellow. Dominant epistasis.

“International cooperation of Russia” - Creation of economic and legal prerequisites. International cooperation in the field of environmental management. Lack of foresight among entrepreneurs. Reasons for not fulfilling international obligations: Introduction of environmental disciplines into educational systems. Active work of the Russian Federation in international cooperation.

“Gene interaction” - Phenotype splitting in F2 1:2:1. Phenotype splitting in F2 is 9:3:4. Genes that suppress the action of other non-allelic genes are called suppressors. Phenotype cleavage in F2 13:3. Incomplete dominance. Gene interaction. Recessive. Inheritance of fur color in house mice.

“International Mother Language Day” - 02/11/2011 all language arts teachers conducted lessons dedicated to Mother Language Day. 11th grade N.V. Petukhova wrote an essay - a discussion about his native language. The lessons were very interesting - presentations in the seventh and fifth grades from V.I. Zakharova. L.V. Andrianova invited ninth-graders to work with quotes on the topic of their native Russian language.

“International Marketing” - To make the export product known and attractive to foreign consumers. Structure of marketing research of foreign markets. Factors influencing the pricing process. An effective pricing strategy should reflect: Distribution channels in M.M. Russia. Germany, Austria. Some comparative characteristics of national cultures.

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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 by “judges” from Stockholm in 1959 to 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. The bewilderment of scientists is understandable: Drosophila has 13,601 genes, the round soil worm 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. In the meantime, 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.

Presentation on the topic of genomic projects. Human genome and environment

introduction

Chapter I. Prerequisites and reasons for the development of the International Human Genome Project.

Chapter II. Stages of implementation of the International project

Chapter III. Results of the International Human Genome Project

Conclusion The international project “Human Genome” in the practice of school education

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