We are on the road to creating artificial intelligence, despite the fact that we really don’t understand OUR OWN intelligence yet. Among the approximately 23,000 genes found in human DNA, scientists currently estimate that there may be as few as 50 to 100 that are unique to human beings, but they don’t yet understand what these genes do or why they make such a big difference.

Researcher Philip D. Stahl is trying to figure out exactly what roles these genes play in making us human. Stahl says, “I was astounded at how little attention has been given to human-specific genes, which make us what we are and could potentially offer a great deal of insight into human physiology. In addition, certain pathogens, such as the malaria parasite, have human specific-components in their infection cycle. Human-only genes could offer us unique insights into how the parasites take advantage of us and possibly provide potent new avenues for fighting back.”

The scientists have produced the first detailed analysis of the cellular functions of a hominoid-only gene, TBC1D3. They have evidence that links this gene to breast cancer. TBC1D3’s protein helps turn on a protein that is active in a third of all human cancers.

Stahl and his colleague Edward Mallinckrodt discovered that the TBC1D3 gene is only found in hominoids (those are the more advanced apes?and us). Evolution, Stahl notes, naturally tends to retain genes involved in the most important components of metabolism. If one of these genes mutated too dramatically, that would lead to an organism so sickly that it wouldn’t survive long enough to pass the mutation on to its descendants. So evolution “conserves” these genes, retaining them largely unchanged as one species evolves into another. Therefore, if the genome is compared to an automobile, human-only genes are unlikely to be adding new wheels. But they could, for example, be contributing a new anti-lock braking system: a regulatory function that fine-tunes essential processes originally established millennia ago in other species.

Stahl speculates that there may be human diseases where these genes are mutated or missing, and these conditions could provide important clues to what the humans-only genes do. He says, “It’s also going to be very interesting for evolutionary biologists to try to develop a sense for where these humans-only genes come from. The building blocks of these genes may be present but not active in earlier species.”

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