Neandertal Genome Fact Sheet

Neandertal Genome Project Fact Sheet
Neandertal Facts
This August marks the 150th anniversary of the discovery of the first Neandertal
fossil in 1856 in the Neander Valley near Dusseldorf, Germany.
Neandertal is the closest relative to humans.
The Neandertal is thought to have been reasonably sophisticated, forming
crews and burying its dead; however, Neandertal is believed to have
lacked the higher reasoning function of modern day humans.
Neandertal inhabited Europe and the Near East until about 30,000 years
ago then disappeared after his successor, Homo sapien, migrated to
Remains of Neandertals from as long ago as 400,000 to 30,000 years ago
have been found throughout Europe and parts of Asia.
Approximately 99% of the Homo sapien genome is identical to the
chimpanzee genome, our closest living relative. It is estimated that the
Neandertal shares 96% of the 1% difference with Homo sapien. The
Neandertal shares the remaining 4% of the difference with the
The Neandertal Genome Sequencing Project Facts
The genome is the complete set of genetic information within each cell of
an organism. The information in the genome is stored in chromosomes,
which are long molecules of DNA.
Sections of DNA contain discrete units of hereditary information called
genes, each of which contains a set of instructions for the cell to produce
a particular protein.
DNA is composed of just five basic elements: Carbon, Hydrogen,
Nitrogen, Oxygen, and Phosphorus. These are among the most common
elements found in the universe.
The variable part of DNA is its sequence of base pairs. If all your genetic
information can be compared to a how-to manual, than the DNA sequence
is the alphabet with which it is written.
Because of the structures of the bases, adenine is complimentary to
thymine, forming two hydrogen bonds, and guanine is complimentary to
cytosine, forming three hydrogen bonds. In other words, guanine only
binds to cytosine and adenine only binds to thymine.
Extracting, identifying and sequencing ancient DNA from fossils is a
technically challenging task. When an organism dies, its tissues are
overrun by bacteria and fungi. Much of the DNA is simply destroyed, and
the small amount remaining is broken into short pieces and chemically
modified during the long period of fossil formation. This means that when
scientists mine tiny samples of ancient bones for DNA, much of the DNA
obtained is actually from contaminants such as bacteria, fungi, and even
from scientists who have previously handled the bones.
Until now, ancient DNA researchers have targeted mitochondrial DNA
(mtDNA), an exceptional circle of DNA found in the cell’s energyproducing mitochondria. Each mitochondrion contains multiple copies of
mitochondrial DNA (mtDNA), so it tends to persist in fossils and bits can
be retrieved by a technique called the polymerase chain reaction (PCR).
In order to sequence an entire mammalian nuclear genome, millions of
PCR reactions would have to be performed requiring kilograms of
Neandertal bones. Until 454 Life Sciences’ developed the Genome
Sequencer 20 System, sequencing the entire nuclear genome of ancient
organisms therefore seemed impossible. This new technology makes
such an endeavor feasible by allowing about a quarter of a million single
DNA strands to be amplified individually by PCR from small amounts of
bone and sequenced in only about four hours by a single machine.
454 Chairman and founder, Dr Jonathan M. Rothberg, recognized the
utility of the 454 Sequencing™ technology in amplifying and sequencing
ancient degraded DNA and therefore approached Dr. Svante Pääbo,
Director of the Max-Planck Institute’s Department of Evolutionary. This
project began as a collaboration between 454 and the Max-Planck
Institute to develop methods for sequencing of ancient DNA and has now
evolved into the Neandertal genome project.
The Neandertal sequencing team, comprised of researchers from 454 Life
Sciences, led by Dr. Michael Egholm, and the Max-Planck Institute, led by
Dr. Svante Pääbo, will reconstruct a draft of the 3 billion bases that
comprise the genome of Neandertals. They will use samples from several
Neandertal individuals, including the type specimen found in 1856 in
Neander Valley, and a particularly well-preserved Neandertal from
This project is estimated to take two years and is made possible by 454
Sequencing™ technology and a grant from the Max-Planck Society. The
sequencing of the ancient Neandertal DNA is currently taking place at the
454 Sequencing Center.
Max-Planck Institute Facts
• Dr. Svante Pääbo, Director of the Max-Planck Institute’s Department of
Evolutionary Anthropology was the first to sequence Neandertal
mitochondrial DNA in 1997 at the University of Munich.
Over the last twenty years, Dr. Pääbo’s research group has developed
methods for demonstrating the authenticity of ancient DNA results, as well
as technical solutions to the problems of working with short, chemicallymodified DNA fragments. The Institute will now combine its methodology
with 454 Life Sciences’ state-of the-art high-throughput DNA sequencing.
Dr. Pääbo and other experts in ancient DNA research have focused on
sequencing the mtDNA of ancient organisms such as the woolly mammoth
and cave bears. However, mtDNA comprises only about 0.001% of a
mammal’s entire genome and is inherited exclusively through the female
line. It therefore provides only limited insights into how ancient organism
differed from those living today.
Source: 454 Life Sciences
454 Life Sciences Corporation
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Branford, CT 06510