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454 Life Sciences and Max Planck Institute Complete Draft 1X Sequence of Neanderthal Genome

Completion of more than 3 billion bases of sequenced Neanderthal DNA brings closure to the sequencing stage of a project initiated two and a half years ago

16 Feb 2009 - Researchers from the Max Planck Institute for Evolutionary Anthropology and 454 Life Sciences announced the completion of the 1X draft sequence of the Neanderthal genome. The announcement draws closure to an ambitious sequencing project initiated by the team in July 2006 and highlights the technological advancements necessary to achieve this breakthrough in molecular anthropology. The team also announced the completion of the 18-fold draft sequence of the Bonobo genome, an endangered ape closely related to the Common Chimpanzee and distantly to humans. Detailed analysis of both the Neanderthal and Bonobo genomes will significantly advance our understanding of the human evolutionary history.
 
The Neanderthal project, spearheaded by Dr. Svante Pääbo, Director of the Institute’s Department of Evolutionary Anthropology and Michael Egholm, Chief Technology Officer at 454 Life Sciences, developed from the results of a study published in Nature in 2006, detailing the ability of 454 Sequencing to determine large amounts of nuclear DNA sequences from late Pleistocene animals such as cave bears, mammoths, as well as the Neanderthal. The goal of the project is to identify areas in the genome where humans have undergone rapid evolution since the split from Neanderthals: the genetic changes that define us as human. This analysis is achieved by comparing the Neanderthal reference to the human and chimpanzee reference genome sequences as well as to the genomic variation among humans today.
 
Together the groups have overcome a number of technical obstacles in order to arrive at this first view of the extinct form of human, including difficulties with highly-degraded and contaminated DNA and the limited availability of precious fossil material. A number of key milestones have been achieved over the course of the project, including the complete mitochondrial genome sequence, published in Cell in 2008. Using the chimpanzee and human mitochondrial DNA sequences as reference points, the number of nucleotide differences found in the Neanderthal mitochondrial DNA establishes the divergence date between human and Neanderthal mtDNAs at 660,000 +/- 140,000 years.
 
The final draft sequence includes more than three billion bases of Neanderthal DNA and covers approximately two-thirds of the genome. During the last phase of the project, micro-reads generated by the Solexa technology were used to achieve the one-fold coverage. In order to aid in the analysis of the Neanderthal genome, Dr. Pääbo has organized a consortium of researchers from around the world that plans to publish their results later this year.