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Ancient DNA and Neanderthals

The Relationship between Modern Humans and Neanderthals
The relationship between modern humans and archaic hominins,
particularly Neanderthals, has been the subject of much debate. While
the idea that modern humans originated in Africa and spread out to
other parts of the world (Out of Africa) is widely accepted, several
scenarios have been proposed to account for the replacement of
archaic hominin populations. Under strict replacement, modern
humans did not interbreed with the archaic populations as they
expanded their geographic range. In less strict scenarios, admixture
between the populations occurred, but in small amounts, with the bulk
of modern human ancestry tied to Africa. The multiregional hypothesis
holds that hominin populations in Eurasia and Africa were held
together by gene flow. Fossil and genetic evidence supports an
African origin for Homo sapiens.
Mitochondrial DNA shows differences between Neanderthals and
modern humans. Neanderthal mtDNA also differed from that of
anatomically modern Homo sapiens from the same time period.
Proponents of multiregional and admixture models argue that these
results are consistent with African origin for modern Homo sapiens,
but do not explicitly rule out admixture between modern humans and
archaic populations (Templeton 2007, Relethford 2008). Neanderthal
genetic sequences introduced into the human genome may have been
subsequently lost through genetic drift (Relethford 2001), while
similarities between modern Europeans and Neanderthals, which
would be expected if Neanderthals and modern humans interbred
while in Europe, could have been lost due to gene flow between
modern humans from different regions.

Various analyses have examined the amount of Neanderthal

contribution to modern human mtDNA. One analysis was unable to
find positive evidence for interbreeding, but could not rule out a small
genetic contribution (Serre et al. 2004). Other researchers (Plagnol
and Wall 2006, Wall et al. 2009) looked at the pattern of variation in
modern human DNA to determine whether modern humans mixed
with more ancient populations. Their recent models are consistent with
between 1-4% archaic-modern admixture in European and American
populations, and 1.5% admixture in East Asian populations. Nested
clade phylogenetic analysis shows evidence of three expansions out
of Africa at 1.9 Ma, 650,000 years, and 130,000 years, which is
consistent with the admixture between ancient and modern
populations rather than complete replacement (Templeton 2002, 2005,
2007). Other researchers contend that factors such as population
structure within Africa could have preserved old haplotypes and
produced the pattern found in the nested clade analysis (Satta and
Takahata 2002).
Though it is difficult to prove or quantify admixture, small amounts of
interbreeding were supported by a variety of analyses. However, the
substantial differences between Neanderthal and modern human
mtDNA is consistent with large-scale replacement and some amount
of interbreeding between modern and archaic populations.
Interbreeding between archaic and moderns may have involved
different species of archaic hominins, including populations in Africa,
Asia and Europe.
The draft sequence of the Neanderthal genome provides more
evidence that interbreeding between Neanderthals and modern
humans may have occurred. It showed more similarities between nonAfrican modern humans and Neanderthals than between African
modern humans and Neanderthals. This difference between regions is
consistent with interbreeding between Neanderthals and the ancestors
of Eurasian modern humans before they branched off into regional

groups. Approximately 1 to 4% of non-African modern human DNA is

shared with Neanderthals.
Last edited by Obadele Kambon; Yesterday at 02:45 PM.

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Re: Ancient DNA and Neanderthals

Neanderthal-Human Hybrid Unearthed

DNA from the 40,000-year-old bones of a modern
human found in Europe contains Neanderthal genes.
By Bob Grant | June 22, 2015

DNA taken from a 40,000year-old modern human jawbone from the cave Pestera cu
Oase in Romania reveals that this man had a Neandertal
ancestor as recently as four to six generations back.IMAGE,
EVOLUTIONARY ANTHROPOLOGYBetween 35,000 and 45,000
years ago, modern humans spread throughout Europe.
Around the same time, Neanderthals disappeared from the
landscapebut not before interbreeding with Homo sapiens.
Recent research has revealed that all non-Africans living
today retain a genetic trace1-3 percent of the genomeof
Neanderthal ancestry. And 40,000 years ago, human
genomes may have contained twice as much Neanderthal
DNA, according to a study published today (June 22)
Genetic material recovered from 40,000-year-old human
bones unearthed in Romania harbors about 6-9 percent

Neanderthal DNA, the study reports. Some of this DNA was

contained in three relatively large chromosome segments,
suggesting the individual had a Neanderthal ancestor only
four to six generations back. I think the conclusions are
quite clear, and its really quite remarkable that they were
lucky to find a hybrid that was so recent to be able to date it
to a few generations back, said Rasmus Nielsen, a University
of California Berkeley population geneticist who was not
involved with the work.
Whats amazing about this sample is that we were so lucky
to find it, agreed Harvard Medical School population
geneticist David Reich, a senior author on the paper.
Reich and his colleagues sequenced DNA from the jawbone of
a so-called Oase individual, named for the region of Romania
in which the modern human skeletal remains were found in
2002. The skeletal remains retained gross morphological
features that suggested it was a human-Neanderthal
admixture, so Reich decided to plumb the genome for such a
relationship. Although contaminated with exogenous DNA,
the jawbone yielded sequencable DNA that the researchers
processed in order to isolate and analyze endogenous genetic
material. There are only minute amounts of humanlike DNA
material in there, Ludovic Orlando, an ancient-DNA
researcher at the University of Copenhagen who was not
involved with the study, wrote in an email to The Scientist.
That in itself is quite a challenge, but on top of that you
have huge contamination levels from a mostly European
background, meaning that you are really after a needle in a
haystack here.
The key to sussing out the individuals own genetic material
involved bioinformatic techniques that separated out
contaminating DNA. They were able to use recent
approaches to identify endogenous parts of the genome,
said Ripan Malhi, a University of Illinois molecular
anthropologist who was not involved with the study.

In addition to finding the chromosomal segments that

suggested a recent mating event between modern humans
and Neanderthals, Reich and his colleagues found genomic
evidence of an earlier hybridization that likely occurred
between the two hominin species.
This isnt the first time researchers have identified a humanNeanderthal hybrid. Previously, researchers had found
evidence of an older admixture event that occurred in the
Near East in what is modern-day Israel. The new results
suggest that Neanderthals and modern humans mixed in
modern-day Europe. Whats exciting about this is that it is
evidence that Neanderthal mixture occurred in Europe as
well, said Reich. What seems to have happened is that
modern humans moved through Neanderthal territory and
mixed with them multiple times through that span.
As ancient-DNA technologies and methodologies continue to
improve, scientists are likely to uncover more information
that will further resolve the evolutionary history of modern
humans. Paleontologists have a number of skeletal remains
that bear morphological traces of shared ancestry with
Neanderthals, and DNA-based techniques can validate and
quantify more traces of human-Neanderthal admixture. It
wouldnt surprise me if we found another individual like this
in eastern Eurasia, said Malhi.
And looking even further into the future, ancient-DNA
researchers will be able to elucidate even more about early
human evolution. Im really looking forward to the day when
we can get DNA out of Homo erectus, said Nielsen. That
might really change our view of human evolution. I think that
will come, and I think thats really exciting.
(To read more about how ancient-DNA work is informing the
study of human evolution, see this months feature story
Whats Old Is New Again and the accompanying TS Live
video, Genetic Time Machine.)