"We are more different genetically from people living 5,000 years ago than they were different from Neanderthals," according to John Hawks -University of Wisconsin anthropologist. "Five thousand years is such a small sliver of time - it's 100 to 200 generations ago. That's how long it's been since some of these genes originated, and today they are in 30 or 40 percent of people because they've had such an advantage. It's like 'invasion of the body snatchers.'What's really amazing about humans," Hawks continued, "that is not true with most other species, is that for a long time we were just a little ape species in one corner of Africa, and weren't genetically sampling anything like the potential we have now."
In 2007, a team led by University of Wisconsin-Madison anthropologist John Hawks estimated that positive selection just in the past 5,000 years alone -dating back to the Stone Age - has occurred at a rate roughly 100 times higher than any other period of human evolution. Hawks is Professor of Anthropology at the University of Wisconsin—Madison and Associate Chair of Anthropology, a Howard Hughes Medical Institute (HHMI) Faculty Fellow, and an associate member of both the Department of Zoology and the J. F. Crow Institute for the Study of Evolution. Many of the new genetic adjustments, Hawks observes, are occurring around changes in the human diet brought on by the advent of agriculture, and resistance to epidemic diseases that became major killers after the growth of human civilizations.
"In evolutionary terms, cultures that grow slowly are at a disadvantage, but the massive growth of human populations has led to far more genetic mutations," says Hawks. "And every mutation that is advantageous to people has a chance of being selected and driven toward fixation. What we are catching is an exceptional time."
While the correlation between population size and natural selection is nothing new - it was a core premise of Charles Darwin, Hawks says - the ability to bring quantifiable evidence to the table is a new and exciting outgrowth of the Human Genome Project.
In the hunt for recent genetic variation in the genome map the project has cataloged the individual differences in DNA called single nucleotide polymorphisms (SNPs). The project has mapped roughly 4 million of the estimated 10 million SNPs in the human genome. Hawks' research focuses on a phenomenon called linkage disequilibrium (LD). These are places on the genome where genetic variations are occurring more often than can be accounted for by chance, usually because these changes are affording some kind of selection advantage.
The researchers identify recent genetic change by finding long blocks of DNA base pairs that are connected. Because human DNA is constantly being reshuffled through recombination, a long, uninterrupted segment of LD is usually evidence of positive selection. Linkage disequilibrium decays quickly as recombination occurs across many generations, so finding these uninterrupted segments is strong evidence of recent adaptation, Hawks says.
Employing this test, the researchers found evidence of recent selection on approximately 1,800 genes, or 7 percent of all human genes.
This finding runs counter to conventional wisdom in many ways, Hawks says. For example, there's a strong record of skeletal changes that clearly show people became physically smaller, and their brains and teeth are also smaller. This is generally seen as a sign of relaxed selection - that size and strength are no longer key to survival.
But other pathways for evolution have opened, Hawks says, and genetic changes are now being driven by major changes in human culture. One good example is lactase, the gene that helps people digest milk. This gene normally declines and stops activity about the time one becomes a teenager, Hawks says. But northern Europeans developed a variation of the gene that allowed them to drink milk their whole lives - a relatively new adaptation that is directly tied to the advance of domestic farming and use of milk as an agricultural product.
The biggest new pathway for selection relates to disease resistance, Hawks says. As people starting living in much larger groups and settling in one place roughly 10,000 years ago, epidemic diseases such as malaria, smallpox and cholera began to dramatically shift mortality patterns in people. Malaria is one of the clearest examples, Hawks says, given that there are now more than two dozen identified genetic adaptations that relate to malaria resistance, including an entirely new blood type known as the Duffy blood type.
Another recently discovered gene, CCR5, originated about 4,000 years ago and now exists in about 10 percent of the European population. It was discovered recently because it makes people resistant to HIV/AIDS. But its original value might have come from obstructing the pathway for smallpox.
"There are many things under selection that are making it harder for pathogens to kill us," Hawks says.
Population growth is making all of this change occur much faster, Hawks says, giving a tribute to Charles Darwin. When Darwin wrote in "Origin of the Species" about challenges in animal breeding, he always emphasized that herd size "is of the highest importance for success" because large populations have more genetic variation, Hawks says.
The parallel to humans is obvious: The human population has grown from a few million people 10,000 years ago to about 200 million people at A.D. 0, to 600 million people in the year 1700, to more than 6.5 billion today. Prior to these times, the population was so small for so long that positive selection occurred at a glacial pace, Hawks says.
The Wisconsin study was published the Proceedings of the National Academy of Sciences.
The Daily Galaxy via University of Wisconsin and http://johnhawks.net/weblog/hawks/hawks.html