The finding, to be published Feb. 14 in the journal Science, suggests that in these regions, human genetic variation dates back to a common ancestor with chimpanzees millions of years ago, before the species split. It also highlights the importance of the dynamic co-evolution of human hosts and their pathogens in maintaining genetic variation.
Balancing selection allows evolution to keep all hereditary options open. The classic human example is the persistence of two versions of the hemoglobin gene: a normal version and hemoglobin S., a mutation that distorts the shape and function of red blood cells. Those who inherit two normal hemoglobin genes are at high risk for malaria, a parasitic disease that infects more than 200 million people each year. Those who inherit one normal gene and one hemoglobin S. gene are partially protected from malaria—a potentially life-saving benefit. Those with two copies of the gene suffer from sickle-cell anemia, a serious and lifelong circulatory disease.
"When we looked for genetic clues pointing to other, more ancient, examples of balancing selection, we found strong evidence for at least six such regions and weaker evidence for another 119—many more than we expected," said study author Molly Przeworski, PhD, professor of human genetics and of ecology and evolution at the University of Chicago.
"We don't yet know what their functions are," she said. None of the six regions codes for a protein. There are clues that they are involved in host-pathogen interactions, "but which pathogens, what immune processes," she said, "we don't know."