Geneticists looking for the origin of heritable diseases "now have a new sandbox to play in," says Shaare Zedek Medical Center’s medical genetics director Prof. Ephrat Levy-Lahad, following the discovery that what had been called "junk DNA" in the human genome has an important purpose after all.
Instead of 99 percent of the genome being "irrelevant filler" -- as had been thought -- in the genome of three billion base pairs, and only the remaining 1% encoding for vital proteins, the "junk DNA" serves as millions of DNA switches that power human genome's operating system. It thus comprises a massive control panel; without these switches, genes would not work – and mutations in these regions might lead to human disease.
The locations of some four million switches were discovered and published Thursday in the journals ITAL Nature, Genome Biology and Genome Research END ITAL by an international research team of hundreds of scientists led by the University of Washington in Seattle that did not include a group of Israelis. The University of Washington’s ENCODE project stands for "ENCyclopedia Of DNA Elements."