Entire Genome of Extinct Human Decoded from Fossil
ScienceDaily (Feb. 7, 2012) — The Max Planck Institute for Evolutionary Anthropology, in Leipzig, Germany, has completed the genome sequence of a Denisovan, a representative of an Asian group of extinct humans related to Neandertals.
In 2010, Svante Pääbo and his colleagues presented a draft version of the genome from a small fragment of a human finger bone discovered in Denisova Cave in southern Siberia. The DNA sequences showed that this individual came from a previously unknown group of extinct humans that have become known as Denisovans. Together with their sister group the Neandertals, Denisovans are the closest extinct relatives of currently living humans.
The Leipzig team has now developed sensitive novel techniques which have allowed them to sequence every position in the Denisovan genome about 30 times over, using DNA extracted from less than 10 milligrams of the finger bone. In the previous draft version published in 2010, each position in the genome was determined, on average, only twice. This level of resolution was sufficient to establish the relationship of Denisovans to Neandertals and present-day humans, but often made it impossible for researchers to study the evolution of specific parts of the genome. The now-completed version of the genome allows even the small differences between the copies of genes that this individual inherited from its mother and father to be distinguished.
On February 8 the Leipzig group makes the entire Denisovan genome sequence available for the scientific community over the internet.
“The genome is of very high quality,” says Matthias Meyer, who developed the techniques that made this technical feat possible. “We cover all non-repetitive DNA sequences in the Denisovan genome so many times that it has fewer errors than most genomes from present-day humans that have been determined to date.”
The genome represents the first high-coverage, complete genome sequence of an archaic human group — a leap in the study of extinct forms of humans. “We hope that biologists will be able to use this genome to discover genetic changes that were important for the development of modern human culture and technology, and enabled modern humans to leave Africa and rapidly spread around the world, starting around 100,000 years ago” says Pääbo. The genome is also expected to reveal new aspects of the history of Denisovans and Neandertals.
The group plans to present a paper describing the genome later this year. “But we want to make it freely available to everybody already now” says Pääbo. “We believe that many scientists will find it useful in their research.”
The project is made possible by financing from the Max Planck Society and is part of efforts since almost 30 years by Dr. Pääbo’s group to study ancient DNA. The finger bone was discovered by Professor Anatoly Derevianko and Professor Michail Shunkov from the Russian Academy of Sciences in 2008 during their excavations at Denisova Cave, a unique archaeological site which contains cultural layers indicating that human occupation at the site started up to 280,000 years ago. The finger bone was found in a layer which has been dated to between 50,000 and 30,000 years ago.
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What are Fossils
Fossils (from Latin fossus, literally “having been dug up”) are the preserved remains or traces of animals, plants, and other organisms from the remote past. The totality of fossils, both discovered and undiscovered, and their placement in fossiliferous (fossil-containing) rock formations and sedimentary layers (strata) is known as the fossil record. The study of fossils across geological time, how they were formed, and the evolutionary relationships between taxa (phylogeny) are some of the most important functions of the science of paleontology. Such a preserved specimen is called a “fossil” if it is older than some minimum age, most often the arbitrary date of 10,000 years ago. Hence, fossils range in age from the youngest at the start of the Holocene Epoch to the oldest from the Archaean Eon several billion years old. The observations that certain fossils were associated with certain rock strata led early geologists to recognize a geological timescale in the 19th century. The development of radiometric dating techniques in the early 20th century allowed geologists to determine the numerical or “absolute” age of the various strata and thereby the included fossils.
Like extant organisms, fossils vary in size from microscopic, such as single bacterial cells only one micrometer in diameter, to gigantic, such as dinosaurs and trees many meters long and weighing many tons. A fossil normally preserves only a portion of the deceased organism, usually that portion that was partially mineralized during life, such as the bones and teeth of vertebrates, or the chitinous exoskeletons of invertebrates. Preservation of soft tissues is rare in the fossil record. Fossils may also consist of the marks left behind by the organism while it was alive, such as the footprint or feces (coprolites) of a reptile. These types of fossil are called trace fossils (or ichnofossils), as opposed to body fossils. Finally, past life leaves some markers that cannot be seen but can be detected in the form of biochemical signals; these are known as chemofossils or biomarkers.