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      Genetic history of an archaic hominin group from Denisova Cave in Siberia.

      Nature
      Animals, Asia, DNA, Mitochondrial, genetics, Europe, Finger Phalanges, chemistry, Fossils, Gene Flow, Genome, Hominidae, classification, Humans, Melanesia, Molecular Sequence Data, Phylogeny, Siberia, Tooth, anatomy & histology

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          Abstract

          Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin with Neanderthals. This population was not involved in the putative gene flow from Neanderthals into Eurasians; however, the data suggest that it contributed 4-6% of its genetic material to the genomes of present-day Melanesians. We designate this hominin population 'Denisovans' and suggest that it may have been widespread in Asia during the Late Pleistocene epoch. A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone. This tooth shares no derived morphological features with Neanderthals or modern humans, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans.

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          Patterns of damage in genomic DNA sequences from a Neandertal.

          High-throughput direct sequencing techniques have recently opened the possibility to sequence genomes from Pleistocene organisms. Here we analyze DNA sequences determined from a Neandertal, a mammoth, and a cave bear. We show that purines are overrepresented at positions adjacent to the breaks in the ancient DNA, suggesting that depurination has contributed to its degradation. We furthermore show that substitutions resulting from miscoding cytosine residues are vastly overrepresented in the DNA sequences and drastically clustered in the ends of the molecules, whereas other substitutions are rare. We present a model where the observed substitution patterns are used to estimate the rate of deamination of cytosine residues in single- and double-stranded portions of the DNA, the length of single-stranded ends, and the frequency of nicks. The results suggest that reliable genome sequences can be obtained from Pleistocene organisms.
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            Ancient human genome sequence of an extinct Palaeo-Eskimo.

            We report here the genome sequence of an ancient human. Obtained from approximately 4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20x, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.
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              A new small-bodied hominin from the Late Pleistocene of Flores, Indonesia.

              Currently, it is widely accepted that only one hominin genus, Homo, was present in Pleistocene Asia, represented by two species, Homo erectus and Homo sapiens. Both species are characterized by greater brain size, increased body height and smaller teeth relative to Pliocene Australopithecus in Africa. Here we report the discovery, from the Late Pleistocene of Flores, Indonesia, of an adult hominin with stature and endocranial volume approximating 1 m and 380 cm3, respectively--equal to the smallest-known australopithecines. The combination of primitive and derived features assigns this hominin to a new species, Homo floresiensis. The most likely explanation for its existence on Flores is long-term isolation, with subsequent endemic dwarfing, of an ancestral H. erectus population. Importantly, H. floresiensis shows that the genus Homo is morphologically more varied and flexible in its adaptive responses than previously thought.
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