According to two studies published on Wednesday, DNA from these
pre-modern humans may play a role in the appearance of hair and skin
as well as the risk of certain diseases.
Although Neanderthals became extinct 28,000 years ago in Europe, as
much as one-fifth of their DNA has survived in human genomes due to
interbreeding tens of thousands of years ago, one of the studies
found, although any one individual has only about 2 percent of
caveman DNA.
"The 2 percent of your Neanderthal DNA might be different than my 2
percent of Neanderthal DNA, and it's found at different places in
the genome," said geneticist Joshua Akey, who led one of the
studies. Put it all together in a study of hundreds of people, and
"you can recover a substantial proportion of the Neanderthal
genome."
Both studies confirmed earlier findings that the genomes of east
Asians harbor more Neanderthal DNA than those of Europeans. This
could be 21 percent more, according to an analysis by Akey and
Benjamin Vernot, published online in the journal Science.
Still, "more" is a relative term.
According to the paper by geneticists at Harvard Medical School,
published in Nature, about 1.4 percent of the genomes of Han Chinese
in Beijing and south China, as well as Japanese in Tokyo come from
Neanderthals, compared to 1.1 percent of the genomes of Europeans.
Anthropologists expressed caution about the findings.
Fewer than half a dozen Neanderthal fossils have yielded genetic
material, said Erik Trinkaus of Washington University in
St. Louis, one of the world's leading experts on early humans. Using
this small sample to infer how much Neanderthal DNA persists in
today's genome is therefore questionable, he said.
INTERBREEDING
As expected, since Neanderthals never existed in Africa, Africans
and those who trace their ancestry to that continent have almost no
Neanderthal DNA, the Harvard team found.
Human ancestors began migrating out of humanity's natal continent as
early as 1 million years ago, paleoanthropologists infer from fossil
evidence, and between 500,000 and 200,000 years ago evolved into the
robust, large-browed Homo neanderthalensis in Western Europe.
Ever since scientists extracted DNA from the remains of
Neanderthals, they have known that people today carry snippets of
cavemen genes, in the amounts of 2 percent to 3 percent.
That clinched the case that Neanderthals and modern humans
interbred, probably 40,000 to 80,000 years ago, soon after the
latter arrived in Europe from Africa. The new studies add details
about how much DNA and of what kind we inherited.
"The story of early human evolution is captivating in itself, yet it
also has far-reaching implications for understanding the
organization of the modern human genome," Irene Eckstrand of the
National Institutes of Health's National Institute of General
Medical Sciences, which partially funded the research, said in a
statement.
"Every piece of this story that we uncover tells us more about our
ancestors' genetic contributions to modern human health and
disease."
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DISEASES
The Harvard team used a novel genetic algorithm to estimate the
probability that a particular genetic variant arose from
Neanderthals. Basically, they started with the genome of a
50,000-year-old Neanderthal and determined whether pieces of it
also appeared in some non-Africans but not in sub-Saharan Africans.
The algorithm identified remnants of Neanderthal DNA, called
alleles, in genes associated with type 2 diabetes, Crohn's disease,
lupus, biliary cirrhosis and smoking behavior.
"But we can't tell if the Neanderthal alleles are contributing to
disease," said Harvard's Sriram Sankararaman, lead author of the
paper in Nature.
Areas "with increased Neanderthal ancestry tend to be higher the
farther away you go from genes," sitting, instead, in regions of the
genome that do not actually produce the proteins, enzymes and other
working molecules of the body.
Neanderthal DNA does sit within some genes, however, such as those
for keratin, a fibrous protein that makes skin, hair and nails tough
and can be beneficial in colder environments by providing thicker
insulation.
The endurance of this Neanderthal DNA suggests that our caveman
inheritance was adaptive, picked by natural selection to persist in
our genome, generation after generation, because it conferred a
survival advantage in individuals who carried it.
SPEECH
The Harvard team analyzed the genomes of 1,004 people to estimate
which populations got more or less Neanderthal DNA. Confirming a
2013 study, they found more in the genomes of east Asians than in
Europeans.
But they also dug deeper.
Puerto Ricans and Spaniards have the least Neanderthal DNA, 1.05
percent and 1.07 percent respectively. That is curious because
Neanderthals made their last stand on the Iberian peninsula, finally
dying out there 28,000 years ago.
Across all populations, Neanderthal DNA is conspicuously low in
regions of the X chromosome and in testes-specific genes. The
paucity of Neanderthal genes among those active in the testes
suggests that interbreeding wasn't a resounding success: It produced
viable children, but the males were infertile.
Although as much as 20 percent of Neanderthal DNA persists in modern
genomes, according to the Washington scientists, vast regions of the
latter are Neanderthal deserts. Among them is a region of chromosome
7 that includes a gene called FOXP2.
"FOXP2 has previously been implicated in speech and language and may
be an example of a gene that influences a uniquely human trait,
which is why we find no Neanderthal sequences in these regions,"
said Akey.
(Editing by Bernadette Baum)
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