Gene Study Identifies 5 Main Human Populations

Scientists studying the DNA of 52 human groups from around the world have concluded that people belong to five principal groups corresponding to the major geographical regions of the world: Africa, Europe, Asia, Melanesia and the Americas.

The study, based on scans of the whole human genome, is the most thorough to look for patterns corresponding to major geographical regions. These regions broadly correspond with popular notions of race, the researchers said in interviews.

The researchers did not analyze genes but rather short segments of DNA known as markers, similar to those used in DNA fingerprinting tests, that have no apparent function in the body.

"What this study says is that if you look at enough markers you can identify the geographic region a person comes from," said Dr. Kenneth Kidd of Yale University, an author of the report.

The issue of race and ethnicity has forced itself to biomedical researchers' attention because human populations have different patterns of disease, and advances in decoding DNA have made it possible to try and correlate disease with genetics.

The study, published today in Science, finds that "self-reported population ancestry likely provides a suitable proxy for genetic ancestry." In other words, someone saying he is of European ancestry will have genetic similarities to other Europeans.

Using self-reported ancestry "is less expensive and less intrusive" said Dr. Marcus Feldman of Stanford University, the senior author of the study. Rather than analyzing a person's DNA, a doctor could simply ask his race or continent of origin and gain useful information about their genetic make-up.

Several scientific journal editors have said references to race should be avoided. But a leading population geneticist, Dr. Neil Risch of Stanford University, argued recently that race was a valid area of medical research because it reflects the genetic differences that arose on each continent after the ancestral human population dispersed from its African homeland.

"Neil's article was theoretical and this is the data that backs up what he said," Dr. Feldman said.

The new result is based on blood samples gathered from around the world as part of the Human Genome Diversity Project, though on a much less ambitious scale than originally intended. Dr. Feldman and his colleagues analyzed the DNA of more than 1,000 people at some 400 markers. Because the sites have no particular function, they are free to change or mutate without harming the individual, and can become quite different over the generations.

The Science authors concluded that 95 percent of the genetic variations in the human genome is found in people all over the world, as might be expected for a small ancestral population that dispersed perhaps as recently as 50,000 years ago.

But as the first human populations started reproducing independently from one another, each started to develop its own pattern of genetic differences. The five major continental groups now differ to a small degree, the Science article says, as judged by the markers. The DNA in the genes is subject to different pressures, like those of natural selection.

Similar divisions of the world's population have been implied by earlier studies based on the Y chromosome, carried by males, and on mitochondrial DNA, bequeathed through the female line. But both elements constitute a tiny fraction of the human genome and it was not clear how well they might represent the behavior of the rest of the genome.

Despite the large shared pool of genetic variation, the small number of differences allows the separate genetic history of each major group to be traced. Even though this split broadly corresponds with popular notions of race, the authors of Science article avoid using the word, referring to the genetic patterning they have found with words like "population structure" and "self-reported population ancestry."

But Dr. Feldman said the finding essentially confirmed the popular conception of race. He said precautions should be taken to make sure the new data coming out of genetic studies were not abused.

"We need to get a team of ethicists and anthropologists and some physicians together to address what the consequences of the next phase of genetic analysis is going to be," he said.

Some diseases are much commoner among some ethnic groups than others. Sickle cell anemia is common among Africans, while hemochromatosis, an iron metabolism disorder, occurs in 7.5 percent of Swedes. It can therefore be useful for a doctor to consider a patient's race in diagnosing disease. Researchers seeking the genetic variants that cause such diseases must take race into account because a mixed population may confound their studies.

The new medical interest in race and genetics has left many sociologists and anthropologists beating a different drum in their assertions that race is a cultural idea, not a biological one. The American Sociological Association, for instance, said in a recent statement that "race is a social construct" and warned of the "danger of contributing to the popular conception of race as biological."

Dr. Alan Goodman, a physical anthropologist at Hampshire College and an adviser to the association, said, "there is no biological basis for race." The clusters shown in the Science article were driven by geography, not race, he said.

But Dr. Troy Duster, a sociologist at New York University and chairman of the committee that wrote the sociologists' statement on race, said it was meant to talk about the sociological implications of classifying people by race and was not intended to discuss the genetics.

The Science authors concluded that 95 percent of the genetic variations in the human genome is found in people all over the world, as might be expected for a small ancestral population that dispersed perhaps as recently as 50,000 years ago.

We Dodged Extinction

‘Pruned’ Family Tree Leaves Little Genetic Variety

Just one group of chimpanzees can have more genetic diversity than all 6 billion humans on the planet. (Corel)

Special to ABCNEWS.com
A worldwide research program has come up with astonishing evidence that humans have come so close to extinction in the past that it’s surprising we’re here at all.
    Pascal Gagneux, an evolutionary biologist at the University of California at San Diego, and other members of a research team studied genetic variability among humans and our closest living relatives, the great apes of Africa.
     Humanoids are believed to have split off from chimpanzees about 5 million to 6 million years ago. With the passage of all that time, humans should have grown at least as genetically diverse as our “cousins.” That turns out to be not true.
     “We actually found that one single group of 55 chimpanzees in west Africa has twice the genetic variability of all humans,” Gagneux says. “In other words, chimps who live in the same little group on the Ivory Coast are genetically more different from each other than you are from any human anywhere on the planet.”

The branch lengths illustrate the number of genetic differences, not only between species, but among species as well. The pruned bush for humans shows how little genetic diversity exists. (Marco Doelling/ABCNEWS.com)

The Family Bush
“The family tree shows that the human branch has been pruned,” Gagneux says. “Our ancestors lost much of their original variability.”
     “That makes perfectly good sense,” says Bernard Wood, the Henry R. Luce Professor of Human Origins at George Washington University and an expert on human evolution.
     “The amount of genetic variation that has accumulated in humans is just nowhere near compatible with the age” of the species, Wood says. “That means you’ve got to come up with a hypothesis for an event that wiped out the vast majority of that variation.”
     The most plausible explanation, he adds, is that at least once in our past, something caused the human population to drop drastically. When or how often that may have happened is anybody’s guess. Possible culprits include disease, environmental disaster and conflict.
Almost Extinct
“The evidence would suggest that we came within a cigarette paper’s thickness of becoming extinct,” Wood says.
     Gagneux, who has spent the last 10 years studying chimpanzees in Africa, says the implications are profound.
     “If you have a big bag full of marbles of different colors, and you lose most of them, then you will probably end up with a small bag that won’t have all the colors that you had in the big bag,” he says.
     Similarly, if the size of the human population was severely reduced some time in the past, or several times, the “colors” that make up our genetic variability will also be reduced.
     If that is indeed what happened, then we should be more like each other, genetically speaking, than the chimps and gorillas of Africa. And that’s just what the research shows.
     “We all have this view in our minds that we [humans] started precariously as sort of an ape-like creature” and our numbers grew continuously, adds Wood. “We’re so used to the population increasing inexorably over the past few hundred years that we think it has always been like that.”
     But if it had, Gagneux notes, our genetic variability should be at least as great as that of apes.
A Stormy Past
Gagneux is the lead author of a report that appeared in the April 27 issue of the Proceedings of the National Academy of Sciences. The study, carried out with researchers in Germany, Switzerland and the United States, is the first to examine large numbers of all four ape species in Africa.
     “We can do that now because new technology allows us to non-invasively take some hair, or even some fruit that these apes chew, and then we get their DNA from a couple of cells that stick to a hair or a piece of fruit they chewed.”
     Then they compared the DNA variability of apes and chimps to that of 1,070 DNA sequences collected by other researchers from humans around the world. They also added the DNA from a bone of a Neanderthal in a German museum. The results, the researchers say, are very convincing.
     “We show that these taxa [or species] have very different amounts and patterns of genetic variation, with humans being the least variable,” they state.
     Yet humans have prevailed, even though low genetic variability leaves us more susceptible to disease.
     “Humans, with what little variation they have, seem to maximize their genetic diversity,” Gagneux says.
     “It’s ironic,” he notes, that after all these years the biggest threat to chimpanzees is human intrusion into their habitats. When he returned to Africa to study a group of chimps he had researched earlier, Gagneux found them gone.
     “They were dead,” he says, “and I mean the whole population had disappeared in five years.”
     Yet as our closest living relatives, chimps still have much to teach us about ourselves.

Lee Dye’s column appears Wednesdays on ABCNEWS.com. A former science writer for the Los Angeles Times, he now lives in Juneau, Alaska.

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