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Reconstructing Oetzi, the Neolithic Man family tree with 454 Sequencing

Reconstructing Oetzi’s family tree with 454 Sequencing gives unprecedented insight into Neolithic Man.

Branford, CT - April 30, 2008

Since Oetzi’s sensational discovery, in 1991 and his extraction from the glacier in Alto Adige in Italy, Europe’s most famous mummy has been the subject of intensive scientific study. The initial research focused on dating the mummy, and with the aid of radiocarbon dating analyses it has been established that Oetzi dates back to around 3,000 BC. Oetzi the Neolithic man is assumed to have been a hunter or a high-ranking warrior and the cause of his death, according to the most accredited hypothesis was an arrow wound. Currently, Dr. Gianluca De Bellis of the CNR Institute of Biomedical Technology is taking part in new investigations promoted by Professor Franco Rollo of the University of Camerino. De Bellis is analyzing Oetzi´s mitochondrial DNA by means of ultrafast 454 sequencing.

Previous studies that were conducted by means of traditional technologies have determined that Oetzi’s mitochondrial DNA does not resemble any sub-type found in any present existing ethnic group. In using the Genome Sequencer FLX System, it will now be possible to shed more light on the subject of Oetzi’s descendents, and establish his place in the genetic scenario of the present European race. Furthermore, 454 Sequencing data will enable researchers to trace Oetzi’s ancestors; and reconstruct an accurate phylogenetic family tree, obtaining an authentic global view of human evolution. In comparison to chromosomal DNA, which is protected within the cell nucleus, Mitochondrial DNA has far greater molecular variability; this is due to the influence of the external environment. Therefore, as apposed to its nuclear counterpart, mitochondrial DNA is far better suited for tracing evolutionary changes.

“The Genome Sequencer FLX from Roche Diagnostics has made a significant contribution in the simplification and optimization of DNA testing. Compared to traditional methods, it has increased productivity 1,000-fold, considerably reducing time investment and costs. A vast number of nucleotide sequences, the “bricks” that make up the DNA, can now be analyzed simultaneously.” explains Dr. De Bellis. He expects to finish sequencing of the DNA in the first half of 2008.

Following the mitochondrial analyses, De Bellis plans to study Oetzi’s eating habits. Tissue samples that have been extracted from the mummy’s colon will enable an analysis of his intestinal flora. The reason for this investigation will be to compare the genes between the embryonic digestive tube bacteria of Neolithic man with those of the present day modern man.

Marco Deambrosis, Head of Roche Applied Science Italy, commented: “It is a great pleasure to see that the technology of Roche Applied Science helps the scientific community in grasping a better understanding our own species. It is part of our vision to serve researchers, to support users and to share their ambitious projects with an innovative genomics approach as we did with CNR institute in Milan with the Genome Sequencer FLX System”.

454 Life Sciences develops and commercializes the innovative Genome Sequencer™ system for ultra-high-throughput DNA sequencing. Specific applications include de novo sequencing and re-sequencing of genomes, metagenomics, RNA analysis, and targeted sequencing of DNA regions of interest. The hallmarks of 454 Sequencing™ are its simple, unbiased sample preparation and long, highly accurate sequence reads, including paired reads. 454 Sequencing technology has enabled many peer-reviewed studies in diverse research fields such as cancer and infectious disease research, drug discovery, marine biology, anthropology, paleontology and many more.

For additional information, please visit http://www.454.com.

For more information on the technology, visit www.roche-applied-science.com/sis/sequencing.

About Roche and the Roche Diagnostics Division

Headquartered in Basel, Switzerland, Roche is one of the world’s leading research-focused healthcare groups in the fields of pharmaceuticals and diagnostics. As the world’s biggest biotech company and an innovator of products and services for the early detection, prevention, diagnosis and treatment of diseases, the Group contributes on a broad range of fronts to improving people’s health and quality of life. Roche is the world leader in in-vitro diagnostics and drugs for cancer and transplantation, and is a market leader in virology. It is also active in other major therapeutic areas such as autoimmune diseases, inflammatory and metabolic disorders and diseases of the central nervous system. In 2007, sales by the Pharmaceuticals Division totalled 36.8 billion Swiss francs, and the Diagnostics Division posted sales of 9.3 billion Swiss francs. Roche has R&D agreements and strategic alliances with numerous partners, including majority ownership interests in Genentech and Chugai, and invested more than 8 billion Swiss francs in R&D in 2007. Worldwide, the Group employs about 79,000 people. Additional information is available on the Internet at www.roche.com.

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