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Versatility of 454 Sequencing(TM) Demonstrated in Three Publications in Science Last Week

Variety of new applications spans paleogenomics, paired-end mapping, and

gene expression analysis

BRANFORD, Conn., Oct. 2 /PRNewswire/ -- 454 Life Sciences, a Roche company, is the subject of three ground-breaking studies published last week in Science, all of which employed the company's Genome Sequencer(TM) system. The studies, entitled "Paired-End Mapping Reveals Extensive Genomic Structural Variation in Humans", "Wasp Brain Gene Expression Supports an Evolutionary Link between Maternal Behavior and Eusociality", and "Whole-Genome Shotgun Sequencing of Mitochondria from Ancient Hair Shafts" appear online (ahead of print) in Science Express.

The three publications span a number of research fields and sequencing applications. The diversity of the publications illustrate the flexibility of 454 Sequencing and its ability to deliver scientifically relevant results in any research field employing DNA sequencing. The studies relied on long, highly accurate reads, including paired reads, characteristic of 454 Sequencing.

Previous studies of human genomic variation tended to look at changes called single nucleotide polymorphism (SNP), variations that involve just one nucleotide. However, the study, "Paired-End Mapping Reveals Extensive Genomic Structural Variation in Humans," published today suggests that structural variation is responsible for a larger number of differences between the genomes of two individuals than SNPs. Furthermore, structural variation may have notable physical effects on an individual. The role that SV plays in human variability has not been well understood because of imprecise technology used in previous research. The novel approach described today in Science, called Paired End Mapping (PEM), used 454 Sequencing to comprehensively study SV at an unmatched level of resolution, detecting most of the structural variation in the human genome.

The presence of worker wasps that forgo reproduction and care for their siblings is a defining feature of eusociality and a major challenge for evolutionary theory. In the study, "Wasp Brain Gene Expression Supports an Evolutionary Link between Maternal Behavior and Eusociality," researchers used 454 Sequencing to examine messenger RNA from the brains of wasps and correlate different expression patterns to different social behaviors. Insulin-related genes were among those genes showing a distinct pattern, suggesting that the evolution of eusociality involved major nutritional and reproductive pathways.

The study entitled "Whole-Genome Shotgun Sequencing of Mitochondria from Ancient Hair Shafts" combines a novel approach of preparing ancient DNA with 454 Sequencing to quickly and affordably sequencing the complete mitochondria from 10 individual mammoths. To put this new study in perspective, only seven mitochondrial genomes from extinct animals had been previously published, four from ancient birds, two mammoths and one of the mastodon, a distant relative of mammoths. The method for obtaining ancient DNA, as described in today's paper, uses hair shafts and not live cells. Hair from many extinct species is available in museum collections around the world. The new protocol, along with 454 Sequencing, opens the door to sequence many ancient species.

"Three diverse publications appearing in Science the same week and utilizing 454 Sequencing is a testament to the system's flexibility and applicability to life science research," explained Michael Egholm, Ph.D., vice president of research and development at 454 Life Sciences. "Researchers were able to sequence ancient and degraded DNA, obtain a paired-end map of structural variation throughput the human genome at unprecedented resolution, and analyze the role of gene expression in the evolution of eusociality. All of this in one week in Science is very inspirational."

454 Life Sciences develops and commercializes the innovative Genome Sequencer(TM) 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(TM) 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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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

For more information please contact

Roche Diagnostics GmbH

Dr. Burkhard Ziebolz

Phone +49 (8856) 60 4830


Russo Partners, LLC

Tony Russo

(212) 845-4251

Russo Partners, LLC

Benjamin Carmichael

(212) 845-4242

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