Genetics and the human genome

The science of genetics begins in the garden of an Austrian Monk named Gregor Mendel.  In 1866, he published the results of his work suggesting the existence of “factors” -- which would later be called genes -- that are responsible for the physical characteristics of organisms.

A Columbia University professor, Dr. Thomas Morgan, provided the next step in 1910 by discovering that these genes are in fact carried within the structures called chromosomes.  And in 1926, Hermann J. Muller discovered that he could create mutations in fruit flies by irradiating them with X-rays.

Finally, in 1953, Dr. Rosalind Franklin and, independently, Dr. James D. Watson and Dr. Francis Crick outlined the structure of the DNA molecule.  And Dr. Sydney Brenner completed the picture by discovering RNA and the basic processes of protein construction.

The next phase of genetics involves the mapping of the DNA:  What is the sequence of bases (A, T, G, and C) that make up DNA, and how do those sequences relate to proteins and ultimately to the traits of living organisms?  Two researchers, Frederick Sanger and Walter Gilbert, independently discovered a technique to efficiently “read” the bases, and in 1977, a bacteriophage virus was the first creature to have its genome revealed.

In the 1980’s, the Department of Energy revealed a plan to bring together researchers world-wide to learn the entire genome - of human beings!  The NIH (National Institute of Health) joined in, and made Dr. James Watson the director of the Office of Human Genome Research.

In 1995, Dr. Hamilton Smith and Dr. J. Craig Venter read the genome of a bacterium.  In 1998, researchers published the genome of the first animal, a roundworm.  In 2000, they had the genome of the fruit fly.  And in the same year, researchers had the genome sequence of the first plant.

In June of 2000, at a White House ceremony hosted by President Clinton, two research groups -- the Human Genome Project consortium and the private company Celera Genomics -- announced that they had nearly completed working drafts of the human genome.  In February of 2001, the HGP consortium published its draft in Nature and Celera published its draft in Science.  The drafts described some 90% of the human genome, although scientists knew the function of less than 50% of the genes discovered..

There were a few surprises:  Although the human genome is comprised of more than three billion bases, this is only a third as large as scientists had predicted.  And it is only twice as large as that of the roundworm.  It was also discovered that 99.9% of the sequences are exactly the same for all human beings.  We are not as special as we like to think!

The human genome project is not just an intellectual exercise:  Knowing our genetic makeup will allow us to treat genetic illnesses, custom-design medicines, correct mutations, more effectively treat and even cure cancer, and more.  It is an accomplishment that surpasses even the landing on the moon.


Copyright 2002, C. George Boeree

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