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Sequencing and analysis of Neanderthal genomic DNA

Noonan, James P.; Coop, Graham; Kudaravalli, Sridhar; Smith, Doug; Krause, Johannes; Alessi, Joe; Chen, Feng; Platt, Darren; Paeaebo, Svante; Pritchard, Jonathan K.; Rubin, Edward M.

Science (Washington, DC, United States) (2006), 314(5802), 1113-1118 CODEN: SCIEAS; ISSN: 0036-8075. English.

Our knowledge of Neanderthals is based on a limited number of remains and artifacts from which we must make inferences about their biol., behavior, and relationship to ourselves. Here, these extinct hominids were characterized from a new perspective, based on the development of a Neanderthal metagenomic library and its high-throughput sequencing and anal. Several lines of evidence indicate that the 65,250 base pairs of hominid sequence so far identified in the library are of Neanderthal origin, the strongest being the ascertainment of sequence identities between Neanderthal and chimpanzee at sites where the human genomic sequence is different. These results enabled calculation of the human-Neanderthal divergence time based on multiple randomly distributed autosomal loci. Analyses suggest that on average the Neanderthal genomic sequence obtained and the reference human genome sequence share a most recent common ancestor ∼706,000 years ago, and that the human and Neanderthal ancestral populations split ∼370,000 years ago, before the emergence of anatomically modern humans. The finding that the Neanderthal and human genomes are ≥99.5% identical led to the development and successful implementation of a targeted method for recovering specific ancient DNA sequences from metagenomic libraries. This initial anal. of the Neanderthal genome advances our understanding of the evolutionary relationship of Homo sapiens and Homo neanderthalensis and signifies the dawn of Neanderthal genomics. The genomic survey sequence are deposited in GenBank/EMBL/DDBJ under accession nos. DX935178-DX936503.


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