454 Sequencing: Science paper describes a novel, highly efficient method of sequencing ancient DNA

September 27, 2007

Branford, September 27, 2007

454 Life Sciences, a Roche company, today reported that researchers from Pennsylvania State University have used the company's Genome Sequencer™ FLX system to sequence the entire mitochondrial genomes from 10 individual woolly mammoths. The study, entitled "Whole-Genome Shotgun Sequencing of Mitochondria from Ancient Hair Shafts" appears online (ahead of print) today in the journal Science.

The study describes a novel way to study the genomes of extinct animals: hair shafts provide an ideal source of ancient DNA. Typically, DNA sequencing from hair involves the hair root, which contains recognizable cells. In this new study, researchers portray the hair shaft as DNA encased in a biological kind of plastic, protected from damage and isolated from contaminants.

The study demonstrates the efficacy of this new method by employing 454 Sequencing to sequence the entire mitochondria from 10 individual Woolly mammoths. Several of the hair samples investigated were up to 50,000 years old with one sample being stored in a Russian museum for 200 years at room temperature. To put this new study in perspective, only seven mitochondrial genomes from extinct animals had been previously published, four from ancient birds, two from mammoths, and one of the mastodon, a distant relative of mammoths.

"The challenge with sequencing ancient DNA is finding an undamaged and uncontaminated sample, and having a sequencing technology that can produce long, highly accurate sequence reads affordably." explained Stephan C. Schuster, PhD., senior author and Associate Professor of Biochemistry and Molecular Biology at Pennsylvania State University. "By combining our novel method for capturing ancient DNA with 454 Sequencing, we are able to move paleogenomics from a niche application to high-throughput analysis. I can see a time of museumomics where museums will add genomic analyses to extinct species stored in collections around the world."

"This new method for preparing ancient DNA really unlocks the power of 454 Sequencing in the field of paleogenomics." explained Michael Egholm, Ph.D., vice president of research and development at 454 Life Sciences. "While ultra-high throughput and ability to generate long, high-accuracy reads makes 454 Sequencing an obvious choice for ancient DNA sequencing, the limiting factor has always been obtaining enough high quality DNA to take advantage of the technology. The new protocol, along with 454 Sequencing, opens the door to sequence many ancient species."

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 whole 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 research, infectious diseases research, drug discovery, marine biology, anthropology, paleontology, and many more.
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For additional information, please visit http://www.454.com.

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, a market leader in virology and active in other major therapeutic areas such as autoimmune diseases, inflammation, metabolism and central nervous system. In 2006 sales by the Pharmaceuticals Division totaled 33.3 billion Swiss francs, and the Diagnostics Division posted sales of 8.7 billion Swiss francs. Roche employs roughly 75,000 worldwide and has R&D agreements and strategic alliances with numerous partners, including majority ownership interests in Genentech and Chugai. Roche's Diagnostics Division offers a uniquely broad product portfolio and supplies a wide array of innovative testing products and services to researchers, physicians, patients, hospitals and laboratories world-wide. For further information, please visit our website at www.roche.com.

Noonan/Russo Communications

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