Paleogenetics
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Paleogenetics is the study of the past through the examination of preserved genetic material from the remains of ancient organisms. Emile Zuckerkandl and
Linus Pauling Linus Carl Pauling (; February 28, 1901August 19, 1994) was an American chemist, biochemist, chemical engineer, peace activist, author, and educator. He published more than 1,200 papers and books, of which about 850 dealt with scientific topi ...
introduced the term in 1963, long before the
sequencing In genetics and biochemistry, sequencing means to determine the primary structure (sometimes incorrectly called the primary sequence) of an unbranched biopolymer. Sequencing results in a symbolic linear depiction known as a sequence which suc ...
of DNA, in reference to the possible reconstruction of the corresponding
polypeptide Peptides (, ) are short chains of amino acids linked by peptide bonds. Long chains of amino acids are called proteins. Chains of fewer than twenty amino acids are called oligopeptides, and include dipeptides, tripeptides, and tetrapeptides. ...
sequences of past organisms. The first sequence of
ancient DNA Ancient DNA (aDNA) is DNA isolated from ancient specimens. Due to degradation processes (including cross-linking, deamination and fragmentation) ancient DNA is more degraded in comparison with contemporary genetic material. Even under the bes ...
, isolated from a museum specimen of the extinct quagga, was published in 1984 by a team led by Allan Wilson. Paleogeneticists do not recreate actual organisms, but piece together ancient DNA sequences using various analytical methods. Fossils are "the only direct witnesses of extinct species and of evolutionary events" and finding DNA within those fossils exposes tremendously more information about these species, potentially their entire physiology and anatomy. The most ancient DNA sequence to date was reported in February 2021, from the tooth of a Siberian
mammoth A mammoth is any species of the extinct elephantid genus ''Mammuthus'', one of the many genera that make up the order of trunked mammals called proboscideans. The various species of mammoth were commonly equipped with long, curved tusks an ...
frozen for over a million years.


Applications


Evolution

Similar sequences are often found along DNA (and the derived protein polypeptide chains) in different species. This similarity is directly linked to the sequence of the DNA (the genetic material of the organism). Due to the improbability of this being random chance, and its consistency too long to be attributed to convergence by
natural selection Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the heritable traits characteristic of a population over generations. Cha ...
, these similarities can be plausibly linked to the existence of a common ancestor with common genes. This allows DNA sequences to be compared between species. Comparing an ancient genetic sequence to later or modern ones can be used to determine ancestral relations, while comparing two modern genetic sequences can determine, within error, the time since their last common ancestor.


Human evolution

Using the thigh bone of a
Neanderthal Neanderthals (, also ''Homo neanderthalensis'' and erroneously ''Homo sapiens neanderthalensis''), also written as Neandertals, are an Extinction, extinct species or subspecies of archaic humans who lived in Eurasia until about 40,000 years ag ...
female, 63% of the Neanderthal genome was recovered and 3.7 billion bases of DNA were decoded. It showed that ''Homo neanderthalensis'' was the closest living relative of ''Homo sapiens,'' until the former lineage died out 30,000 years ago. The Neanderthal
genome In the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding ...
was shown to be within the range of variation of those of anatomically modern humans, although at the far periphery of that range of variation. Paleogenetic analysis also suggests that Neanderthals shared slightly more DNA with chimpanzees than ''homo sapiens''. It was also found that Neanderthals were less genetically diverse than modern humans, which indicates that ''Homo neanderthalensis'' grew from a group composed of relatively few individuals. DNA sequences suggest that ''Homo sapiens'' first appeared between about 130,000 and 250,000 years ago in
Africa Africa is the world's second-largest and second-most populous continent, after Asia in both cases. At about 30.3 million km2 (11.7 million square miles) including adjacent islands, it covers 6% of Earth's total surface area ...
. Paleogenetics opens up many new possibilities for the study of hominid evolution and dispersion. By analyzing the genomes of
hominid The Hominidae (), whose members are known as the great apes or hominids (), are a taxonomic family of primates that includes eight extant species in four genera: '' Pongo'' (the Bornean, Sumatran and Tapanuli orangutan); ''Gorilla'' (the ...
remains, their lineage can be traced back to from where they came, or from where they share a common ancestor. The Denisova hominid, a species of hominid found in
Siberia Siberia ( ; rus, Сибирь, r=Sibir', p=sʲɪˈbʲirʲ, a=Ru-Сибирь.ogg) is an extensive geographical region, constituting all of North Asia, from the Ural Mountains in the west to the Pacific Ocean in the east. It has been a part ...
from which DNA was able to be extracted, may show signs of having genes that are not found in any Neanderthal nor
Homo sapiens Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture ...
genome, possibly representing a new lineage or species of hominid.


Evolution of culture

Looking at DNA can give insight into lifestyles of people of the past. Neandertal DNA shows that they lived in small temporary communities. DNA analysis can also show dietary restrictions and mutations, such as the fact that ''Homo neanderthalensis'' was
lactose-intolerant Lactose intolerance is a common condition caused by a decreased ability to digest lactose, a sugar found in dairy products. Those affected vary in the amount of lactose they can tolerate before symptoms develop. Symptoms may include abdominal pa ...
.


Archaeology


Ancient disease

Studying DNA of the deceased also allows us to look at the medical history of the human species. By looking back we can discover when certain diseases first appeared and began to afflict humans.


Ötzi

The oldest case of
Lyme disease Lyme disease, also known as Lyme borreliosis, is a vector-borne disease caused by the '' Borrelia'' bacterium, which is spread by ticks in the genus '' Ixodes''. The most common sign of infection is an expanding red rash, known as erythema ...
was discovered in the genome on Ötzi the Iceman. * Ötzi died around 3,300 B.C., and his remains were discovered frozen in the Eastern Alps in the early 1990s, and his genetic material was analyzed in the 2010s. Genetic remains of the bacterium that causes Lyme disease, ''Borrelia burgdorferi'', were discovered in the body.


Domestication of animals

Not only can past humans be investigated through paleogenetics, but the organisms they had an effect on can also be examined. Through examination of the divergence found in domesticated species such as
cattle Cattle (''Bos taurus'') are large, domesticated, cloven-hooved, herbivores. They are a prominent modern member of the subfamily Bovinae and the most widespread species of the genus '' Bos''. Adult females are referred to as cows and adult ...
and the archaeological record from their wild counterparts; the effect of domestication can be studied, which could tell us a lot about the behaviors of the cultures that domesticated them. The genetics of these animals also reveals traits not shown in the paleontological remains, such as certain clues as to the behavior, development, and maturation of these animals. The diversity in genes can also tell where the species were domesticated, and how these domesticates migrated from these locations elsewhere.


Challenges

Ancient remains usually contain only a small fraction of the original DNA of an organism. This is due to the degradation of DNA in dead tissue by biotic and abiotic decay. DNA preservation depends on a number of environmental characteristics, including temperature, humidity, oxygen and sunlight. Remains from regions with high heat and humidity typically contain less intact DNA than those from
permafrost Permafrost is ground that continuously remains below 0 °C (32 °F) for two or more years, located on land or under the ocean. Most common in the Northern Hemisphere, around 15% of the Northern Hemisphere or 11% of the global surface ...
or caves, where remains may persist in cold, low oxygen conditions for several hundred thousand years. In addition, DNA degrades much more quickly following excavation of materials, and freshly excavated bone has a much higher chance of containing viable genetic material. After
excavation Excavation may refer to: * Excavation (archaeology) * Excavation (medicine) * ''Excavation'' (The Haxan Cloak album), 2013 * ''Excavation'' (Ben Monder album), 2000 * ''Excavation'' (novel), a 2000 novel by James Rollins * '' Excavation: A Mem ...
, bone may also become contaminated with modern DNA (i.e. from contact with skin or unsterilized tools), which can create false-positive results.


See also

* Ancestral reconstruction * Ancestral sequence reconstruction *
Ancient DNA Ancient DNA (aDNA) is DNA isolated from ancient specimens. Due to degradation processes (including cross-linking, deamination and fragmentation) ancient DNA is more degraded in comparison with contemporary genetic material. Even under the bes ...
* Ancient pathogen genomics *
Archaeogenetics Archaeogenetics is the study of ancient DNA using various molecular genetic methods and DNA resources. This form of genetic analysis can be applied to human, animal, and plant specimens. Ancient DNA can be extracted from various fossilized specimen ...
*
Molecular clock The molecular clock is a figurative term for a technique that uses the mutation rate of biomolecules to deduce the time in prehistory when two or more life forms diverged. The biomolecular data used for such calculations are usually nucleo ...
* Paleobiochemistry * Paleovirology


References

{{reflist, colwidth=35em Paleogenetics