Japanese man dives into exclusive gene pool

A Japanese man has joined an exclusive club that includes DNA co-discoverer James Watson, biotech business pioneer Craig Venter and anonymous men in western Africa, Korea and China. All of these people have had their genetic code completely sequenced. That means this anonymous Japanese man joined the others in having a sample of his DNA unravelled to show all three billion base pairs, or "letters" in the double-helix code for life.

What privileges come with membership?

Well, none necessarily for the test subject, but perhaps plenty for humanity. The researchers who performed the analysis, at the RIKEN Center for Genomic Medicine in Yokohama, say they've uncovered hundreds of thousands of previously unknown variations in the human genome. They did this using new massively parallel sequencing technology. The findings, they said, provide clues on the role of rare genetic variants in disease susceptibility.

The study, published online in the specialist journal Nature Genetics, is headed by Tatsuhiko Tsunoda, who told the AFP news agency that he's cautious about making any comparisons between the Japanese and other genomes.

"More samples--dozens--would be necessary, which is our future plan," he told the news agency. ... In the future, we would be able to find (a) huge number of variations in individual genomes that should be related to many diseases," he said.

The project is part of a larger "1,000 Genome Project" launched in 2008--an international effort to established a detailed catalogue of human genetic variation. The idea is to establish which ethnic groups are susceptible to what diseases. One conclusion, say the researchers, is that much more research is needed.

"Our analysis suggests that considerable variation remains undiscovered in the human genome and that whole-genome sequencing is an invaluable tool for obtaining a complete understanding of human genetic variation," the authors write.

- check out release
- here's the abstract in Nature Genomics
- read the report by AFP