The X-Woman's Fingerbone
Carl Zimmer
Discover Magazine Blogs / The Loom
March 24, 2010
http://blogs.discovermagazine.com/loom/2010/03/24/the-x-womans-fingerbone/


In a cave in Siberia, scientists have found a 40,000-
year old pinky bone that could belong to an entirely new
species of hominid. Or it may be yet another example of
how hard it is to figure where one species stops and
another begins-even when one of those species is our
own. Big news, perhaps, or ambiguous news.

In Nature today, Svante Paabo and his colleagues
published a paper describing their work in a place known
as the Denisova Cave in the Altai Mountains of Siberia.
There are lots of hominid bones and tools indicating
people lived in the cave, off and on, for 125,000 years.
There's good evidence of Homo sapiens in the region for
at least 40,000 years, and Paabo and his colleagues have
also isolated 30,000-year old DNA from Siberian sites
that is similar to the DNA from Neanderthals in Europe.

The scientists succeeded in fishing out human-like DNA
from a pinky bone found in Denisova, and so far they've
sequenced its mitochondrial DNA-that is, the DNA that is
housed in mitochondria, sausage-shaped, fuel-producing
structures in our cells. The majority of our DNA, which
sits in the nucleus of cells, comes from both our mother
and father. But mitochondrial DNA all comes from Mom.
When the scientists compared the pinky DNA to DNA of
humans and Neanderthals, they got something of a shock.
If you line up the mitochondrial DNA from any given
living human to any other living human, you might expect
to find a few dozen points at which they are different.
Compare human mtDNA to Neanderthal DNA, and you'll find
about 200 differences. But when the scientists compared
the Denisova DNA to a group of human mitochondrial
genomes, they found nearly 400 differences. In other
words, their DNA was about twice as different from ours
than Neanderthal DNA.

The scientists then used the DNA to draw a family tree.
Here's the figure from the paper, which you can also see
here for full-size viewing.

The Denisova mitochondrial DNA has been passed down,
mother to child, on a lineage of hominids that's
separate from the one that produced mitochondria in
Neanderthals and in living humans. Paabo and his
colleagues estimated the age of common ancestor from
which all the mitochondria evolved, based on the
mutations in each branch. They concluded that common
ancestor lived 1 million years ago. Below is a simple
tree that shows the timing more clearly, from an
accompanying commentary in Nature.

No matter how you slice it, this is very exciting. All
the mitochondrial DNA from living humans is believed to
date back just 150,ooo years. That doesn't mean that we
all descend from a single "Eve." There were other woman
around at the time, and they passed down their own
mitochondria. But those lineages eventually hit dead
ends. In some cases, women only had sons. In others,
they never had children. Eventually, all the
mitochondrial DNA in the human population could be
traced to only one of the women alive at the time.

All the Neanderthal mitochondrial DNA also shares a
relatively recent common ancestor of its own-probably
thanks to the same process. And now, for the first time,
scientists have found hominid mitochondrial DNA that
comes from a far more ancient split.

So-how to explain this? A couple possibilities present
themselves.

1. The DNA belongs to a species of hominid that's
neither human nor Neanderthal.

This is the most interesting, most science-fictionish
possibility.

Our hominid ancestors evolved into upright apes in
Africa some six million years ago. By about 1.9 million
years ago, some of those hominids had made their way out
of Africa and strolled all the way to Indonesia. They go
by the name of Homo erectus, and they stuck around Asia
for quite a long time-some would argue they were still
around 40,000 years ago. Neanderthals appear to have
evolved from another wave out of Africa, which spread to
Europe and Siberia several hundred thousand years ago.
Meanwhile, our own ancestors appear to have stayed put
in Africa. The oldest fossils of anatomically modern
humans come from Africa 200,000 years ago, for example,
and studies on human DNA find that African lineages are
the oldest.

The Denisova DNA split too recently from our own to have
been carried by H. erectus, the first globe-trotting
hominids. But paleoanthropologists have found a fair
number of other hominid fossils in Europe and Asia that
might belong to more recent waves out of Africa. (Here,
for example, is a report on hominids in Europe 1.2
million years ago.) So perhaps there was at least one
other wave aside from H. erectus, the expansion of
Neanderthals, and the spread of modern humans. If that's
true, this new discovery also means that this wave
produced a long lineage of hominids that survived long
enough to live alongside humans. We coexisted with yet
another species of hominid-along with Neanderthals, H.
erectus, and those lovable hobbits, Homo floresiensis-
for thousands of years. Our current solitude is a recent
fluke.

If #1 turns out to be true, then this DNA deserves a
species name of its own. But for now, Paabo and his
colleagues have refrained from giving it one. Instead,
they've nicknamed the source of the DNA "X-woman." Why
the reticence? Probably because of possibility #2.

2. The DNA comes from the finger of a Neanderthal or a
human-thanks to a love that dare not speak its name.
Imagine, if you will, that an early Neanderthal male
takes a morning constitutional in search of woolly
rhinos when, gadzooks, he meets up with a fetching X-
woman hominid. For whatever reason, the two of them
decide to have an interspecies tryst, and X-woman gets
pregnant. She gives birth to a girl carrying Neanderthal
and X-woman DNA in her nucleus-and nothing but X-woman
DNA in her mitochondria. Somehow this girl becomes a
part of Neanderthal society; she has Neanderthal
children of her own, and they continue to carry the X-
woman mitochondrial DNA.

Remember that in every generation, nuclear DNA gets
mixed up. Half of the DNA a child carries in the nucleus
comes from its father, half from its mother. And with
the generation of new eggs and sperm, chromosomes from
each parent get chopped up and shuffled back into new
combinations. So over generations, the X-woman DNA might
gradually dwindle away from the Neanderthal gene pool-
but some Neanderthals might still carry X-woman
mitochondria, handed down from mother to daughter to
grand-daughter.

(It's also possible that the interbreeding male in this
scenario was a human-although just in terms of timing,
that's less likely, since Neanderthals were out of
Africa sooner than we were.)

One reason to take this possibility seriously is the
fact that other primate species regularly mix up their
DNA in just this way. Mongoose lemurs expanded into the
range of brown lemurs, for example, and mitochondrial
DNA ended up jumping the species barrier. In many cases,
the species were separated by a million years or so,
just like the Denisov DNA and human/Neanderthal DNA.
(This is why it's hard to use DNA-barcoding to tell
closely related primates apart.) Another reason to take
this possibility serious is lies in our own genomes.
Some scientists have made a forceful case for the
presence of ancient non-human DNA in the gene pool of
living humans.

Still, even if this scenario turned out to be right, it
would mean that a previously unknown X-woman hominid
line expanded out of Africa and lived in Asia until
relatively recently. Whether that lineage could be
rightly considered a separate species of its own is
tricky. (For more on that trickiness, see my article,
"What is a Species?" from Scientific American.)

I can imagine other possible interpretations, but I'm
not sure how plausible they really are. I've sent out
some queries to some experts, and will add anything
interesting I get back [Update: See the end of the
post]. Fortunately, it may be possible to rule some
possibilities out in just a few months. Paabo and
company are busily churning out the sequence of the
nuclear DNA from the Denisova pinky. It's conceivable
that the nuclear DNA will be a lot more like human DNA,
or a lot more like Neanderthal DNA-making it likely that
the fossil belongs to a hybrid. But if the nuclear DNA
is just as exotic as the mitochondria, then perhaps the
finger bone really does belong to a distinct species
that lived 40,000 years ago-a species, it's worth
pointing out, that left its bones behind in the same
layer of sediment where Russian scientists have dug up
tools and ornaments made of stone and antler.

The possibility of a highly intelligent Siberian Other
will have to dance in our heads until more studies come
out.

Update: After I posted this, the paleoanthropologist
John Hawks offers an alternative explanation on his
blog. I followed up with a few questions via email, and
based on his post and his reply, here's my quick
distillation:

Maybe the X-woman was not a separate species at all.

Wind back the clock to a million years ago. In Africa,
there's a population of hominids that will eventually
give rise to Neanderthals and humans. The Neanderthal
lineage expands out across Europe and Asia. They take
with them a wide diversity of mitochondria. Most of the
studies on Neanderthal DNA have focused on European
Neanderthals-and have thus only captured a limited
sample of that diversity. Now, in Siberia, Paabo and his
colleagues have moved so far from the areas they had
studied before that they're finally getting to other
branches of Neanderthal mitochondria.

In this scenario, Neanderthals play a role similar to
that of Africans in the diversity of living humans. In
Africa, you can find people with genes belonging to very
old lineages. The Khoisan bushmen of southern Africa,
for example, have genes that branched off from all other
human lineages long ago. In other words, the genes of
other Africans share a closer ancestor with genes from
people out of Africa. Likewise, some Neanderthal
mitochondrial DNA is more like human DNA than it is to
the Neanderthal DNA found in the Denisova pinky.

[3/27/10: Time to go Borges: an update within an update!
The Atavism (which has already displayed great skills in
visualization by illustrating my recent reader survey)
whipped together a diagram that gets this concept across
nicely:

I'll post more replies as they come in.

Update, 3/25/10 10:15 am: I also got in touch with
Laurent Excoffier, a biologist at the University of Bern
in Switzerland, who has published models of human
evolution indicating that there has been little, if any
interbreeding between our own lineage and Neanderthals
or other hominids.

Excoffier has argued that some genes that have been
claimed to have entered our lineage through
interbreeding were actually already present in ancient
African human populations. I wondered if the
mitochondrial DNA in the Denisova pinky might just be
from an old human, not a separate species. Excoffier was
skeptical:

This seems relatively unlikely, since it is difficult to
understand why this mtDNA lineage would not have been
preserved in Africa. Of course some otherwise rare
mutations (or DNA sequences) can surf to higher
frequencies during range expansions, and this could
potentially explain why it could be seen outside Africa
and not within Africa. But if that was the case, then it
would be difficult to understand why this once frequent
sequence would then have disappeared. So, I would thus
consider this hypothesis as very unlikely.

I then asked if he thought the best explanation for this
DNA was that it came from a separate species, or that it
spread from a separate species into Neanderthals or
humans through interbreeding.

If this sequence is really true (not an artefact from
next-gen sequencing) and if there was no contamination,
then a more plausible explanation would be that this
sequence comes from a divergent Homo species, as claimed
by the authors of the paper.

It is indeed plausible that some non-modern homo or non-
Neanderthals roamed in Asia before modern humans spread
there, and this sequence could well belong to one of
them.

The interesting point for me is that if this sequence is
representative of, say, erectus mtDNA diversity in Asia
40-60,000 years ago, then it means that  some divergent
erectus were there when modern humans expanded into that
region, and that did NOT hybridize with them, or at
least not enough to be introgressed by them during their
expansion (which is the expectation when hybridization
can occur between a local and an invading species).

So there's a vote for possibility #1.

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