Explore the mysteries of life: The 20th anniversary of the publication of a sketch of the human genome

to this day, we have not been able to sequence a chromosome directly. Sketching of the human genome is a milestone, but it is only the beginning of the process of exploring the mysteries of humanity itself, and the way forward is not smooth. Wang Qianghu, head of the Department of Biological Information at Nanjing Medical University
Now, nearly 20 years have passed since the publication of the human genome sketch. On February 15, 2001, scientists from six countries, including China, the United States, Japan, Germany, France and the United Kingdom, jointly published the results of the Human Genome Project, a sketch and preliminary analysis of the human genome, which is also the most accurate and complete sequence of vertebrate genomes ever.
sketch of the human genome is not only an important milestone in the exploration of the mysteries of life, but also a sign of the opening of the genetic medicine and biotechnology industries.the 1950s, with the development of molecular genetics, people have further learned the nature of genes. Since then, humans have fancied that one day they will be able to unlock the genetic code, completely change the way some diseases are prevented, diagnosed and treated, and even realize the modification and recombination of genes.
, it is not easy to decipher the gene, which contains the mysteries of life and determines the death of the old and the sick. The human genome contains about 60,000 to 100,000 genes, consisting of about 3 billion base pairs, distributed among 23 pairs of chromosomes in the nuclei of cells.
we have not been able to sequence a chromosome directly to this day. Professor Wang Qianghu, head of the Department of Biological Information at Nanjing Medical University, said the Human Genome Project is actually a process from complex to simple, and then from simple to complex.
Wang Qianghu told reporters that the Human Genome Project uses two strategies in sequencing human genes: first, a hierarchical sequencing strategy, in which the genome is split into large fragments and cloned one by one, and then the cloned fragments are broken into small pieces, sequencing It is then assembled and stitched together, a strategy adopted by scientists from six countries, and the genome-wide bird gun method proposed and adopted by Celera, a U.S. company, that bypasses the construction of a large-fragment continuous cloning system, dissipates the genome directly into small pieces and randomly sequences it, and then assembles it using computer algorithms.
today, the human genome sketch published in 2001 clearly has many shortcomings, but it has played a huge role in the development of human molecular biology.
in the early stages of human genome sequencing, the use of gel electrophoresis, basically manual operation. In the mid-1990s, the birth of capillary electrophoresis technology greatly accelerated the sequencing process, which can measure the sequence of 1 million base pairs in a day. The whole genome bird gun method proposed by Celera has developed into a prototype of the current common sequencing method, which is simpler, more efficient and less costly.
", the third generation of sequencing technology nano-hole sequencing has been born. Wang Qianghu said it sequences DNA by detecting changes in current as individual DNA molecules pass through nano-holes in the membrane.
" nano-hole sequencing technology allows for 'ultra-long reads' containing hundreds of thousands of base pairs, which can span the entire repeating area, bypassing some of the complex challenges. Wang Qianghu told reporters that the sequencing technology has made it easy to detect repeat sequences that were once considered tricky.deciphering the human genetic code is considered not only the most important event in the field of biology since Darwin, but also the most important scientific research project in human history.
, scientists will analyze how the base functions on how genes are formed and how they function after the base pairs have been sequenced. To find out the location, structure and function of all genes will pave the way for mankind to conquer a variety of difficult diseases.
But 10 years after the human genome sequencing was completed, the conceived precision medicine didn't come as possible, and scientists continued to "patch" the human genome sequence, while the reference genome needed to be updated from time to time, according to the Genome Reference Alliance (GRC), which released the latest human reference genome GRCh38 in 2013.
year, the National Institutes of Health (NIH) announced that it had finally obtained complete, gap-free, end-to-end sequence information for the human X chromosome.
Wang Qianghu believes that the mapping of the human genome is a milestone, but in the scientific process of exploring the mysteries of mankind itself, it is only the beginning, the road to the future is not smooth.
potential challenges remain for researchers. For example, repeated DNA fragments on chromosomes 1 and 9 are much larger than those on chromosome X. Scientists plan to continue their efforts to bridge more unknown "gaps" in the region.it's worth noting that in the sketch of the human gene sequence known as the Book of Life, 1% of the work - the sequencing of 30 million base pairs on chromosome 3 - was done by China.
Wang qianghu said that 1% is not easy, developed countries like Germany and France are only about 2% to 3% of the task, and China is the only developing country involved.
year, a poster was put up in front of the Sanger Genomics Research Centre in the UK, known as the "research mecca" of life sciences, that read: "Buy one or get one free?" "It means that even if you're spending money, you have to choose to get involved, not wait for a free shared result." This sentence greatly touched Yang Huanming, Wang Jian and other scientists.
In November 1997, the first meeting of the Youth
Society of the Chinese Genetics Group was held in Zhangjiajie, at which Yang Huanming, Wang Jian and others discussed joining the Human Genome Project to promote the development of genomic science in China. With the strong support of China
and the National South and North Genomics Center, as well as the China
Genetics Institute, the Human Genome Center of the China
Genetics Institute was established in August 1998 and formally applied to the National Institutes of Health in June of the following year for China's accession to the Human Genome Project. On July 8, 1999, the Human Genome Project website announced the success of 1% of Applications in China.
, Yang Huanming, Wang Jian and others joined forces to launch a sprint to the peak of the life sciences. The Chinese expert group sequenced 2 million pairs of bases a day, and in less than half a year they were able to keep the quality and quantity and complete the task ahead of schedule. This fully reflects China's responsibility to humanity, but also reflects China's participation in major international scientific research projects of a positive attitude. "China has only done 1 per cent, but it means a lot," Mr Wang told the media. In the process of sequencing, Chinese researchers not only added equipment, but also cultivated technology.
Through their participation in the Human Genome Project, Chinese scientists have been able to learn and catch up with advanced biotechnology in developed countries in a short period of time, and have completed the genome research of rice genome and SARS coronavirus, as well as the sequencing of animal genomes such as pandas, pigs, chickens and silkworms, so that China's genome research can be among the forefront of the world.