Human Genome Untangled in 3-D

From Scientific American:

Human-genome-3-d_1Erez Lieberman Aiden was an undergraduate at Princeton University in 2000 when scientists announced with great fanfare that they had sequenced the first human genome, yielding a trove of information about what happens inside every human cell. But Aiden wondered what it would be like to see what was happening inside a human cell. How does this gigantic genome—which would stretch 2 meters if you unwound it from its 5-micron-wide coil in the nucleus—actually go about its work? To get to the bottom of this central question, he parlayed his mathematics major into applied math and health sciences and technology Ph.D. work at the Massachusetts Institute of Technology and at Harvard University, where he is currently a Harvard Fellow. Today in the journal Science, he explains the fruit of this work: a technique for mapping the genome that has already shed light on the human genome in all its 3-D glory. The essay won this year’s GE & Science Prize for Young Life Scientists.

The mapping technique that Aiden and his colleagues have come up with bridges a crucial gap in knowledge—between what goes on at the smallest levels of genetics (the double helix of DNA and the base pairs) and the largest levels (the way DNA is gathered up into the 23 chromosomes that contain much of the human genome). The intermediate level, on the order of thousands or millions of base pairs, has remained murky. As the genome is so closely wound, base pairs in one end can be close to others at another end in ways that are not obvious merely by knowing the sequence of base pairs. Borrowing from work that was started in the 1990s, Aiden and others have been able to figure out which base pairs have wound up next to one another. From there, they can begin to reconstruct the genome—in three dimensions.

More here.