GENOMICS: The Science born out of the Human Genome Project

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Jan 31, 2003

In November 1999 I wrote an article about the Human Genome Project (HGP). It was based on the discovery of disease-causing genes. Given the technological developments that have occurred since then I could say that it was a rather basic and naive article.

The HGP was the product of a race between the conservative approach of the public and the innovative one of the private enterprise headed by Craig Venter.

The first draft of the HGP was presented to the world in July 2000. About three years earlier than initially thought. It was a project without a clear hypothesis, that is, its result would be the complete sequence of the human genome (HG), but, it did not try to prove anything.

However, today, almost three years earlier, we have a new science: Genomics, that studies how the genome function as whole. The comparison of the functioning of the rat, mice and human genomes, is starting to shed light on how it works in health and disease.

In my next article I will go into those details, in this one I would like to focus in some of the findings of the project:

· It demonstrated that 95% of the HG is junk DNA, the rest is genes. It is called junk because it does not codes, that is, does not have information to make a functional product such as proteins or RNA. Besides it has no known function.

· The number of human genes is, probably, not much higher than 30,000. About four times less than we used to believe, and very similar to that of the rat, mouse, dog and cat.

· You can also compare this number with 25,498 for the plant thale cress, 13,601 for the fruit fly and 19,099 for the roundworm. This is very interesting, to say the least, because we have about 1013 cells and the round worm, for example has only 903.

· We have 200 times more DNA than the yeast, but 200 times less than an ameba.

· Another striking fact is the number of genes per million bases: 12 for the human, 117 for the fruit fly, 197 for the roundworm and 221 for the thale cress.

· From all this numbers we can conclude on that there seems to be no correlation between the number of genes and the complexity of the organism and that the differences are related to when, how, how much and where, that is in what tissue, is the information coded in the genes expressed.

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