Human Genome

Year of Discovery: 2003
What Is It? A detailed mapping of the entire human DNA genetic code.
Who Discovered It? James Watson and J. Craig Venter

Why Is This One of the 100 Greatest?
Deciphering the human genetic code, the human genome, has been called the first
great scientific discovery of the twenty-first century, the “Holy Grail” of biology. DNA is
the blueprint for constructing, operating, and maintaining a living organism. It directs the
transformation of a fertilized egg into a complete and complex human being. Deciphering
that code is the key to understanding how cells are instructed to develop and grow, the key
to understanding the development of life itself.
Because the human genome is unimaginably complex, it seemed impossible to decipher the three billion elements of this molecular code. Yet this Herculean effort has already
led to medical breakthroughs in genetic defects, disease cures, and inherited diseases. It is
the key to future discoveries about human anatomy and health. Understanding this genome
vastly increased our appreciation of what makes us unique and what connects us with other
living species.

How Was It Discovered?
Austrian monk Gregor Mendel discovered the concept of heredity in 1865, launching
the field of genetics. In 1953 Francis Crick and James Watson discovered the double helix
shape of the DNA molecule that carried all genetic instructions.
The problem was that there were billions of genetic instructions carried on the complete human genetic code, or genome. Understanding it all seemed a physically impossible
task. Sequencing the entire human genome was a project 20,000 times bigger and harder
than any biological project attempted to that time.
Charles De Lisi at the U.S. Department of Energy (DOE) was the first to gain government funds to begin this monumental process, in 1987. By 1990, the DOE had joined with
the National Institutes of Health (NIH) to create a new organization, the International Human Genome Sequencing Consortium (IHGSC). James Watson (of DNA discovery fame)
was asked to head the project and was given 15 years to accomplish this monumental task.


Watson decided to start with large-scale maps of what was known about chromosomes and work down toward the details of individual pairs. In early 2000 President Clinton stepped in to end the war and merged both sides into a unified genome effort. work began on mapping the tens of millions of base pairs in these simple genomes. However. A war began between Watson (representing the “top down” approach) and Venter (representing the “bottom up” approach). it would take thousands of years for all existing labs to complete the identification and sequencing of three billion pairs. Fun Facts: If the DNA sequence of the human genome were compiled in books. Surprisingly. In 2003 this merged team released their preliminary report. Watson’s task was to identify. A human’s genetic sequence is only a few percent different from that of many other species. By 1994 this first effort was complete. Even though the information on this genetic sequence is only a few years old. Using the existing (1990) technology. it has already helped medical researchers make major advances on dozens of diseases and birth defects. these scientists found that humans have only 25.How Was It Discovered? 221 At that time. In written form. He directed all IHGSC scientists to work toward creating physical and linking maps of the 23 chromosomes. . interpret. bread molds. J.000 printed pages (500 books. e. Watson ordered IHGSC scientists to map the complete genome of the simplest and best-known life forms on Earth to refine their technique before attempting to work on the human genome. Its full value will be seen in medical breakthroughs over the next 20 to 50 years. held together by over 3 billion base pairs of molecules. as well as every one of those billions of base pairs.000 genes (down from the previously believed 100. three years ahead of IHGSC’s timetable. Certainly. the equivalent of 200 volumes the size of a Manhattan telephone book (at 1. coli (the common intestinal bacterium).000 to 28. and simple nematodes (tiny oceanic worms). IHGSC scientists chose fruit flies (studied extensively since 1910). not all biologists agreed with this approach. These maps would provide an overview of the human genome and would include only those few “snippets” of actual gene sequences that were already known. In 1998 Venter shocked the world by announcing that he would use linked supercomputers to complete his sequencing of the entire human genome by 2002. detailing the entire sequence of the human genome. at funding meetings. each 300 pages long). the ability to identify and sequence individual pairs existed. Accusations and ugly words erupted from both sides at congressional hearings. Watson’s problem was one of size. Venter quit his government position and formed his own company to develop as much of the genome sequence as he could ahead of IHGSC’s effort. that genome would fill 150. Craig Venter (a gene sequencer at the Institutes of Health) believed that scientists would waste precious years focusing on Watson’s “big picture” and should instead sequence as many specific parts of the genome as they could and piece these individual sequences together later. In the mid-1990s. and sequence every gene on every chromosome.000 genes spread along 23 chromosomes locked onto DNA’s double helix.000). scientists believed that human DNA contained about 100.000 pages each) would be needed to hold it all. and in the press.

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