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Title: A genetic characterization of the fossils from Sima de los Huesos
Authors: Meyer, Matthias
Arsuaga, Juan Luis
Martínez, Ignacio
García García, Nuria
Gracia-Téllez, Ana
Bermúdez de Castro, José María
Carbonell, Eudald
Valdiosera Morales, Cristina
Knapp, Michael
Dabney, Jesse
Fu, Qiaomei
Aximu-Petri, Ayinuer
Glocke, Saskia Isabelle
Gansauge, Marie-Theres
Weihmann, Antje
Nickel, Birgit
Pääbo, Svante
Issue Date: 2014
Publisher: International Union for Prehistoric and Protohistoric Sciences (IUPPS)
Citation: XVII World UISPP Congress, 2014, p. 1008-1009
Abstract: Improvements to ancient DNA extraction and library preparation techniques have enabled the reconstruction of genome sequences from Late Pleistocene hominins at an unprecedented level of resolution. High quality genome sequences are now available from early modern humans as well as Neanderthals and Denisovans. The latter is an Asian sister group to Neanderthals that was discovered only a few years ago by genetic analysis. Despite these advances, genetic analysis of hominin remains until recently seemed limited to the Late Pleistocene period due to constraints on DNA preservation. Interestingly, in 2006 Valdiosera and colleagues proposed DNA preservation in bear bones (U. deningeri) excavated from the site of Sima de los Huesos in the Atapuerca archeological complex. We reasoned that the more advanced current analytical techniques might allow for the recovery of phylogenetic informative DNA sequences from the bear, and possibly also the hominin remains of the site. To explore whether DNA sequences can be obtained from the Sima de los Huesos fossils, we first sampled bear bones that were found in a layer together with hominin remains. After DNA preservation was confirmed for the bear bones, we also drilled small holes into pre-existing fractures of a hominin femur. DNA was isolated using a novel silica-based extraction procedure developed to optimize retrieval of strongly degraded ancient DNA. The DNA was then converted into libraries for sequencing using a highly sensitive technique, where each DNA strand can independently become integrated in the library. Libraries were enriched for bear and hominin mitochondrial DNA and sequenced. We were able to recover nearly complete mitochondrial genome sequences from the bear and the hominin bones. The mitochondrial sequences were assembled from DNA fragments between 30 and 50 base pairs, shorter than those used in any previous ancient DNA study. From the missing mutations in the two genomes we obtain molecular age estimates for the fossils that are close to 400,000 years, broadly in line with geological dates. The mitochondrial genome of Sima de los Huesos cave bear (Ursus deningeri) shows that it is a sister lineage to Late Pleistocene cave bears (U. spelaeus). The hominin mitochondrial sequence unexpectedly shows a closer relationship to the ancestors of the mitochondrial genomes of Denisovans than to those of Neanderthals or modern humans. Our work opens the prospect of genetic studies on Middle Pleistocene hominins. We are currently focusing on recovering nuclear DNA sequences from the Sima de los huesos hominins. Such data are needed to more accurately determine their genetic relationship to other hominins, for example with regard to Denisovans for which almost no morphological information exist. New sequencing and analysis strategies are currently tested to overcome the technical problems imposed by the extreme state of DNA degradation in the fossils and the presence of human and microbial contamination.
Type: Presentation
Appears in Collections:Congresos, encuentros científicos y estancias de investigación

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