Introduction to the Human Genome Project
The Human Genome Project (HGP) was first proposed by American scientists in 1985 and officially launched in 1990. The United States, the United Kingdom, and France Scientists from the Republic of Korea, the Republic of Germany, the Republic of Germany, Japan and my country jointly participated in this US$3 billion human genome project. This project aims to provide more than 3 billion base pairs. Accurately sequence the human genome, discover all human genes, clarify their locations on chromosomes, and decipher all human genetic information. Together with the Manhattan Atomic Bomb Project and the Apollo Project, they are also known as the three major scientific projects.
In 1986, Nobel Prize winner Renato Dulbecco published a short article "A turning point in tumor research: Human genome sequencing" (Science, 231: 1055-1056). The article pointed out: If we want to know more about tumors, we must pay attention from now on The genome of a cell... Which species should we start working on? If we want to understand human tumors, we should start with humans... Human tumor research will be greatly facilitated by detailed knowledge of DNA."
What is a genome? A genome is the overall composition of all genes in a species. The human genome has two meanings: genetic information and genetic material. To uncover the mysteries of life, it is necessary to study the existence and function of genes from an overall level. Structure, function, and the relationship between genes.
Why choose the human genome for research? Because humans are the most advanced organisms in the process of "evolution", and studying it helps to understand ourselves, Master the laws of birth, aging, sickness and death, diagnosis and treatment of diseases, and understand the origin of life.
The human genome project also includes research on the genomes of five organisms: Escherichia coli, yeast, nematodes, fruit flies and mice , called the five "model organisms" of humans.
The purpose of HGP is to decode life, understand the origin of life, understand the rules of growth and development of living organisms, and understand the existence between species and individuals The causes of differences, understanding of the mechanisms of disease and life phenomena such as longevity and aging, provide scientific basis for the diagnosis and treatment of diseases.
The birth and launch of HGP
Research on the human genome is It already had a certain embryonic form in the 1970s, and reached a certain scale in many countries in the 1980s.
In 1984, White R and Mendelsonhn M hosted the conference in Alta, Utah, under the commission of the U.S. Department of Energy (DOE). A small professional meeting was held to discuss the significance and prospects of determining the DNA sequence of the entire human genome (Cook Deegan RM, 1989)
Proposed at a meeting hosted by Sinsheimer RL of the U.S. DOE in Santa Cruz, California, in May 1985 In March 1986, the feasibility of this project was discussed in Santa Fe, New Mexico, and subsequently the draft of the "Human Genome Project" of the U.S. Department of Energy was formed. DOE announced the implementation of this plan.
In 1986, geneticist McKusick V proposed that the science of studying inheritance at the level of the entire genome is called "genomics"
In early 1987, the U.S. Department of Energy and the National Institutes of Health allocated approximately US$5.5 million in start-up funding for HGP (US$166 million for the year)
In 1988, the United States established the "National Human Genome Research Center" with Watson J as the first president Director
On October 1, 1990, with the approval of the U.S. Congress, the U.S. HGP was officially launched, with an overall plan to invest at least US$3 billion within 15 years for the analysis of the entire human genome.
In 1987 , the Italian National Research Council started HGP research, which was characterized by diverse technologies (YAC, hybrid cells, cDNA, etc.) and regional concentration (basically limited to the Xq24-qter region)
1989 2 In September, the UK started HGP, featuring: Imperial Cancer Research Foundation and National Medical Research Council (IC
RP-MRC) is responsible for national coordination and funding control. The Sanger Center near Cambridge focuses on first accumulating experience on the nematode genome and improving large-scale DNA sequencing technology; at the same time, it has established screening and cloning of YAC libraries, specific cell lines, The "British Human Genome Resource Center" provides DNA probes, genomic DNA, cDNA libraries, comparative biological genomic DNA sequences, information analysis, etc. It can be described as "resource concentration and national coordination".
June 1990 France* **The HGP in China was launched. The Ministry of Scientific Research commissioned the National Academy of Medical Sciences to formulate the HGP. The main features are focusing on the overall genome, cDNA and automation. The Center for Human Polymorphism Research (CEPH) was established to conduct research on whole-genome YAC contigs, microsatellites It has had a huge impact on the construction of markers (genetic maps) and the world-famous CEPH family (80 three-generation multi-individual families), a classic material used for genome research.
In 1995, the German Federal *** and China started HGP with great momentum. It successively established a resource center and a gene scanning and positioning center, and began large-scale sequencing of chromosome 21.
In June 1990, the European Commission passed the "European "Human Genome Research Project" mainly funds 23 laboratories focused on the establishment and operation of "resource centers". There are also the Kingdom of Denmark, the Russian Federation, Japan, the Republic of Korea, Australia, etc.
1994 , my country's HGP was launched under the initiative of Wu Min, Qiang Boqin, Chen Zhu, and Yang Huanming. Initially supported by the National Natural Science Foundation and the 863 High-tech Program, it successively launched "research on the genetic structure of several loci in the Chinese genome. " and "Research on the location, cloning, structure and function of genes related to major diseases". Under the leadership and coordination of the Ministry of Science and Technology, the Southern Genome Center was established in Shanghai in 1998, and the Northern Human Genome Center was established in Beijing in 1999. , In 1998, the Institute of Genetics of the Chinese Academy of Sciences was established. In July 1999, it was registered in the International Human Genome Registry and was tasked to complete the sequencing of an approximately 30Mb region on the short arm of human chromosome 3, which accounts for approximately 1% of the entire human genome.
The importance of HGP to humans
1. Contribution of HGP to human disease gene research
Human disease-related genes are the most complete in structure and function in the human genome. Important information. For single-gene diseases, the new ideas of "positional cloning" and "positional candidate cloning" have been adopted, which has led to the discovery of a large number of causative genes for single-gene genetic diseases such as Huntington's disease, hereditary colon cancer, and breast cancer. , laying the foundation for genetic diagnosis and gene therapy of these diseases. Polygenic diseases such as cardiovascular diseases, tumors, diabetes, neuropsychiatric diseases (senile dementia, schizophrenia), autoimmune diseases, etc. are the current disease gene research The focus. Health-related research is an important part of HGP. In 1997, it successively proposed: "Tumor Genome Anatomy Project" and "Environmental Genomics Project".
2. HGP's contribution to medicine
Genetic diagnosis, gene therapy and treatment based on genomic knowledge, disease prevention based on genomic information, identification of disease susceptibility genes, lifestyle of risk groups, and intervention of environmental factors.
3. HGP’s impact on biology Contribution of technology
(1) Genetically engineered drugs: secreted proteins (polypeptide hormones, growth factors, chemokines, coagulation and anticoagulation factors, etc.) and their receptors.
(2) Diagnostic and research reagent industry: gene and antibody kits, biochips for diagnosis and research, disease and drug screening models.
(3) Promotion of cell, embryo, and tissue engineering: embryos and Adult stem cells, cloning technology, organ reconstruction.
4. Contribution of HGP to the pharmaceutical industry
Target screening of drugs: combined with combinatorial chemistry and natural compound separation technology to establish high-tech Flux receptor and enzyme binding experiments Knowledge-based drug design: advanced structural analysis, prediction, and simulation of gene protein products—the "pocket" of drug action.
Personalized drug therapy: pharmacogenomics Science.
5. The important impact of HGP on social economy
The biological industry and the information industry are the two major economic pillars of a country; the social and economic benefits of discovering new functional genes
; Genetically modified food; genetically modified drugs (such as weight-loss drugs, height-increasing drugs)
6. The impact of HGP on the study of biological evolution
The evolutionary history of organisms is inscribed in the "Book of Heaven" of each genome "On; Paramecia are relatives of humans - 1.3 billion years ago; humans evolved from a kind of monkey 3 to 4 million years ago; humans first "walked out of Africa" ??- ancient apes 2 million years ago; humans The "Eve" came from Africa, 200,000 years ago - the second "out of Africa"?
7. The negative effects of HGP
Jurassic Park is not Just a science fiction story; racially selective biological weapons; gene patent wars; plundering wars for genetic resources; genes and personal privacy.