The Other Neanderthal
Meet the first human-related species to be identified with more than fossil records.
http://www.theatlantic.com/technology/archive/2014/08/the-other-neanderthal/375916/
We don’t know what the Denisovan looked like. We
don’t know how it lived, what tools it used, how tall it was, what it
ate, or if it buried its dead.
But from only two teeth and a piece of finger
bone smaller than a penny, we’ve been able to extract the rich history
of a species that split off from Homo sapiens approximately
600,000 years ago. We know they’re more closely related to Neanderthals
than humans—though still distantly. We know they made their way to
Southeast Asian islands, interbreeding with indigenous modern human
groups in New Guinea and Australia. We know their interspecies mingling
with modern humans in mainland Asia was brief, but enough to impart a
few genes. And we know Denisovan genes reveal evidence of interbreeding
with Neanderthals and an even more archaic hominin species.
It’s the first human cousin species identified
with more than fossil records. Instead, scientists used the DNA it left
behind. There’s now a mystery on our hands: Who were the Denisovans, and
where did they go?
“We still don’t know what the Denisovans look like morphologically,” says David Reich,
a Harvard University geneticist. “We have two teeth right now and a
finger bone, all of which have [Denisovan] DNA. But we don’t have
anything else that we can firmly connect to the Denisovans.”
The
Denisovan gets its name from the Denisova Cave, tucked away in the
Altai Mountains in Siberia, near where the borders of Russia, Mongolia,
and China intersect. The Denisovan pinky bone was found in 2008. (The
teeth were found eight years before that but weren’t initially
identified.) Archaeologists from the Institute of Archaeology and
Ethnology of Novosibirsk stumbled upon these fragments as they searched
for Neanderthal tools. Despite the presence of tools from the mid-Stone
Age Mousterian Neanderthal culture, the finger bone found in Denisova
showed mitochondrial DNA (mtDNA) different from Neanderthals or humans. Mitochondrial DNA is exclusively derived matrilineally—that is, tracing descent through the mother’s genetic line—with no information about
any admixture deriving from males anywhere along the line. Further
analysis of the nuclear genome showed Denisovans are more closely tied
to Neanderthals, splitting off some 400,000 years ago.
“The mDNA is only one line of descent; it’s
only one part of one’s ancestry, so It’s not a reflection of all your
ancestors,” Reich, who worked on the Denisova project, says. “It’s your
mother’s mother’s mother’s mother’s mother and you have many ancestors.
And your mother’s mother’s mother’s mother’s mother could have lived in a
very different population or had a very different history than your
mother’s father’s father’s mother’s mother’s mother.”
In other words, mtDNA is only part of the story.
Reich had previously worked with Denisovan project lead Svante Pääbo
of the Max Planck Institute tracing the DNA of Neanderthals. Pääbo and
his team knew there was something different about the original mtDNA
extracted, which showed 1 million years separation from Neanderthals and
modern humans. Reich found more clues in the nuclear genome.The genome is extracted from the nucleus of the gene rather than the mitochondria organelles, and shows traits inherited from male ancestors—a process that provides a more complete genetic picture of our distant cousin species. As researchers zeroed in on this genome, a picture began to emerge of a separate human lineage. With that, we had a new hominin cousin species hiding in plain sight in East Asia.
“Denisovans are an example of—in
my mind—how mitochondrial DNA can lead you wrong, and only the nuclear
genome tells the full story,” Pääbo said. “The
mtDNA of the Denisovans diverge before modern human and Neandertal
mtDNA [break off] from each other, yet the nuclear genome shows that
they share a common ancestor with Neandertals, but far back in time.
Perhaps they even got the mtDNA by gene flow from some other hominin in
Asia.”
So the mother’s mother’s mother (ad infinitum)
of the Denisovan showed a more ancient lineage than the nuclear genome,
which revealed a hominin with a more recent branch of evolution with
Neanderthals. The Denisovans split off from the lineage of Neanderthals
200,000 years after humans had already had their split from the species.
The team found a DNA match for the mysterious
human cousin in the islands of Southeast Asia, thousands of years
removed from the Siberian Population. It wasn’t through fossil
records, but through the DNA of their human descendants.
Denisovan DNA was compared with modern human
populations, matching with the Melanesian people of Papua New Guinea and
the Aborigines of Australia. Some—but not all—indigenous populations in
the Philippines show evidence of Denisovan ancestry. Melanesians and
Aborigines share 5 percent of their DNA with the Denisovan hominin;
Filipino indigenous groups like the Mamanwa and the Manobo
share as much, if not more. Comparatively, European humans share only
between 1 percent and 4 percent of DNA with the Neanderthals. The
genetic evidence showed the Siberian Denisovan was distantly related to
the Denisovan group that interbred with the island populations of
Southeast Asia. The lines between the two Denisovans diverged 280,000 to
400,000 years ago.
The concentration was less in continental Asia.
Mainland Asia shows just a fraction—around one-twenty-fifth—of
Denisovan ancestry compared to islanders. While the Siberian Denisovan
populations lived near the border of modern day China and Mongolia,
their genetics didn’t hang around for long. Around the time the Siberian
Denisovan was alive 40,000 years ago, the species had already dispersed
far and wide, and already interbred with human populations. The
Siberian Denisovan first identified in 2010 was a distant relative to
her cousins in Southeast Asia.
“What’s quite clear is that 40,000 years ago,
Southeast Asia was already a patchwork of peoples with and without
Denisovan ancestry,” Reich said. The limited interbreeding that took
place on the main Asian continent still shows up in populations there
today as a small piece of the Denisovan hominin puzzle.
In tracing the steps of the Denisovan, we find
evidence that the species migrated to Southeast Asia in a concentrated
enough amount to impart a high degree of hybridization with groups in
the region. From the location of the Denisova Cave, we can trace a path
from modern day Russia into Southeast Asia and Australia.
What’s perhaps more surprising is that there is
a low rate of interbreeding in China, Mongolia, Nepal and other
countries on the main continent. If the Denisovans were in the area for
long, they certainly didn’t interact with Homo sapiens in
quite the same way as they did in Southeast Asia. But the fractions of a
percent of shared DNA seen in modern Asian populations have imparted
beneficial adaptations to some groups there—even if it’s just from a
great-to-an-unknown-power grandfather. And all this adds up to more
clues, however small, explaining the migration of the Denisovan.
DNA
mixture in mainland Asia isn’t entirely absent. Some groups still have
the markers of Denisovans, however small. For native Tibetans, ancient
hominin interbreeding—however small a portion of their overall
genome—may have impacted their ability to live in climates and altitudes
hostile to other groups. Rasmus Nielsen, a faculty member
of the Center for Theoretical Evolutionary Genomics, previously worked
on tracing how Tibetans can withstand the effects of hypoxia in
low-oxygen environments. In 2010, his team published a paper indicating
the EPAS1 gene as the culprit behind this beneficial mutation. The gene
regulates the body’s reaction to low oxygen environments, allowing
Tibetans to produce fewer red blood cells and less hemoglobin.
When comparing Tibetan DNA to other human
groups, no one could find where the EPAS1 gene might have arisen. It
didn’t show up in other Homo sapiens populations. It would seem that it came from another species entirely. So Nielsen went looking for the other hominin.
“The difference between the DNA sequence in
Tibetans and all other human human populations was simply too large,”
Nielsen said. “Our models of natural selection and mutation just
couldn’t explain that. So we started to look for other explanations, and
we compared first to the Neanderthal sequence, and we can show that
there’s no match to the Neanderthal sequence.” So on a
longshot bet, Nielsen compared the recently uncovered Denisovan genome
to the Tibetans. The Denisovan ancestry was fractional, but the EPAS1
was an exact match between the two populations.
Prior to dispersing to the islands, the
Denisovans hung around just long enough to give Tibetans the gene they
needed to survive the Himalayas.
With scant fossil evidence, it’s hard to know what to look for when it comes to learning more about the Denisovan.
It would take a DNA match in a fossil to
positively identify any fossil found as Denisovan. The low temperatures
of the Denisova Cave helped preserve much of the DNA in the scant fossil
record, but the same can’t be said of a number of human species whose
lineage has to be resolved based on physical fossil evidence because DNA
is too far decayed to prove useful.
There are a few suspicions on Denisovan fossil matches, however.
“There’s a very enigmatic fossil
record in China that contains possible candidates for Denisovans, and
that’s sort of a very interesting place to look aside from Southeast
Asia,” Reich said, specifically referring to the Dali and Maba Man, two
enigmatic fossils found in two different areas of China. Pääbo also
sequenced DNA from a 400,000 year old femur bone found in a cave in
Spain. While Neanderthals were known to dominate Europe prior to the
arrival of humans, mtDNA in the femur was a closer match to Denisovans,
complicating the existing picture of migration. In the absence of
nuclear DNA, though, it’s hard to determine the extent of a match.
There may also be existing specimens not yet tested. “So
you have a large amount of potential candidates from museum collections
that you could investigate to see if there’s some match to the Denisovan
DNA,” Nielsen said.
Even if the mystery of the Denisovan is solved,
there are plenty more unknowns. In the DNA of the Siberian Denisovan
there were the markers of a third species. Where there was interbreeding
between Neanderthals and Denisovans, there was also gene flow from
another unidentified species more ancient than either Neanderthals and
Denisovans, meaning a very old species likely lived alongside and at the
same time as both.
“The gene flow from Denisovans was from another
archaic population that was extremely distantly related to the
Denisovan from the Denisova Cave,” Reich said. In other words, whatever
the mystery species was, it shared a common ancestor that wasn’t Denisovan. “What
becomes clear is that there were at least three highly divergent
archaic populations. And who knows, there could have been more in
Eurasia at that time.”
Until a fossil is identified, we won’t
conclusively know what the Denisovan looks like. But the quest to learn
more is starting to generate even more questions. In tracking the
Denisovan, scientists have found evidence of other archaic groups,
predating humans, Neanderthals and Denisovans.
They’ve found evidence of a species with a wide
migration pattern, one that may have brought it—or a distant
ancestor—into the European continent. There’s evidence through the
Denisovans Aborigine descendants that it may have crossed the Wallace
Line, the geographic boundary between placental mammals and primitive
forms like monotremes and marsupials on the Australian continent. But
did the Denisovans cross that line, or were the Aborigines the first
explorers?
We’ve known of the Neanderthal for 150 years. We’ve known of the Denisovan for four.
What else might our mysterious cousin reveal?
That’s something scientists will continue to explore in the coming
years, and it will take more than a molar and a pinky. Until then, the
Denisovan will remain a ghost, hiding from its human cousins and
children, known only by the DNA it left behind.
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