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skeleton, and the development of cogni-
tion, although no one knows yet how these
genetic changes affect physiology. “This is a
in Europe. But others thought modern humans they spread into Asia and Europe. The evi- be more similar to European DNA than to
coming out of Africa completely replaced dence showing interbreeding is “incontrovert- African DNA, he thought, “Ah, it’s probably
Neandertals with little or no interbreeding. ible,” says paleoanthropologist John Hawks of just a statistical fluke.” When the link per-
And the genetic evidence from ancient bones the University of Wisconsin, Madison, who sisted, he thought it was a bias in the data.
showed no sign that Neandertals had swapped was not involved in the work. “There’s no So the researchers used different methods
genes with our ancestors—until now. other way you can explain this.” in different labs to confirm the result. “I feel
Finally, population geneticist Rasmus in the Neandertal genome—and found 10 of thereby spreading Neandertal DNA widely.
Nielsen of the University of California the 13 ancient variants. “There are places in This scenario apparently fits with fossils
(UC), Berkeley, scanned the human genome the genome where we can say this section and stone tool data from the Israeli caves
for “ancient” genomic segments—those is really, really likely to be from a Neander- such as Skhul, Qafzeh, and Tabun, where
that might predate the time when mod- tal,” says Reich. Neandertals show up in the region as early
ern humans arose, about 200,000 years When and where did modern humans as 80,000 years ago, when moderns were
ago. Before receiving the Neandertal pick up those Neandertal genes? The most already there. Although each group may
DNA sequences, he identified 13 genomic likely scenario “was the movement of a have occupied the caves intermittently,
regions that were unusually variable, and few Neandertals into a group of moderns,” some say they may have overlapped for up
therefore likely to be evolutionarily ancient, says co-author and population geneticist to 10,000 years. Neandertals and moderns
CREDIT: M. TWOMBLY/SCIENCE
in 48 people outside of Africa. He identi- Montgomery Slatkin of UC Berkeley. If a apparently even occupied the same cave,
fied 13 “old” variants as possibly coming few Neandertals interbred with members Tabun, at different times. The two species
from Neandertals or other archaic ances- of a small population of modern humans, had much in common: Both lived in caves,
tors, because they were missing from the Neandertal gene variants might persist in used similar toolkits (although Neandertals
genomes of 23 African Americans (used as subsequent generations of modern humans may have made better spear points), and
proxies for Africans). Then the team looked if the interbred population expanded rapidly, hunted the same fallow deer and gazelles.
CREDITS: HUBLIN/GUNZ (SKULLS); CHART SOURCE: GREEN ET AL., SCIENCE 328 5979 (7 MAY 2010)
to Neandertals. It’s still possible that Nean- newly evolved modern human genes encode His own group is already working
dertals and modern humans in Europe inter- proteins expressed in the skin, sweat glands, on such functional studies. Postdoctoral
bred rarely and that the Neandertal genes and inner sheaths of hair roots, as well as researcher Matthias Gralle is analyzing
were swamped out in a large population of skin pigmentation. “The fact that three of six the way these recently evolved genetic
modern humans, says Slatkin. genes carrying multiple substitutions are in differences change the way proteins are
In some ways, it is surprising that there skin is fascinating,” says Poinar. Pääbo spec- expressed. Such studies may eventually
isn’t more evidence of interbreeding, now ulates that these changes “reflect that skin offer clues about why Neandertals went
that researchers know it was biologically physiology has changed but how, of course, extinct—and our ancestors didn’t. “The
possible. “For some reason, they didn’t we don’t know yet.” mystery isn’t just why they disappeared,”
interbreed a lot—something was preventing Some of those changes are likely to be says paleoanthropologist Jean-Jacques
them,” says evolutionary geneticist Sarah neutral changes that accumulated through Hublin of the Max Planck Institute for
Tishkoff of the University of Pennsylvania. genetic drift, but the team also used the Evolutionary Anthropology. “It is why we
“Was it a cultural barrier?” Neandertal data to find other evolution- were so successful that we replaced all the
ary changes that were beneficial to modern others.” For now, researchers are delighted
Modern motifs humans and so rose to high frequencies in that this “groundbreaking” genomic work
The Neandertal genome also gives research- some populations. Specifically, they have has made it possible to ask such interest-
ers a powerful new tool to fish for genes that identified 15 regions containing between ing questions, says Poinar. “This is the real
have evolved recently in our lineage, after we one and 12 genes. The widest region is appeal of this project: What will the genome
split from Neandertals. The team compared located on chromosome 2 and contains the of the Neandertal tell us about functional
the Neandertal genome with the genomes of gene THADA, a region that varies in mod- differences between the two [species],” says
five diverse modern humans. They found 78 ern humans and that has been associated Poinar. –ANN GIBBONS