Venter is the lead author on a landmark paper that appears in the February 16 issue of Science . Scientists participating in the Human Genome Project, partially funded by the U.S. National Institutes of Health, estimate the number of human genes to be between 30,000 and 40,000. They chose to publish their data in the British journal Nature , which is also out this week. It means that the old paradigm that one gene makes one protein is clearly in need of revision. That being likely, mRNAs will now have to be reexamined against the human genome sequence.
Proteins are sensitive markers of early onset of disease, and of obvious importance to diagnosis.
Detailed understanding of proteins and the genes from which they come is the next frontier. Small gene number was predicted ages ago. For the past quarter century, estimates of the number of genes in the human genome have generally ranged between 80,000 and 150,000, so the much smaller number comes as an apparent surprise, though perhaps it should not. As early as 1937, the famed biologist J.B.S. Haldane speculated that if the number of genes in an organism becomes too large, deleterious mutations could drive it to extinction. Now we know what we have to explain.