The papers were summarized in the form of a "press release" called a "Perspective." The complete citation is ...
Furey, T.S. and Sethupathy, P. (2013) Genetics Driving Epigenetics. Science 342:705-706. [doi: 10.1126/science.1246755]These authors are affiliated with several departments at the University of North Carolina in Chapel Hill but, most significantly, they are part of the Carolina Center for Genome Sciences. This strongly suggests that they know something about genomes.
That makes it very difficult to explain the following quotation from their "Perspective" article.
One of the most important discoveries in genetics in the last 10 years is that the vast majority of trait-associated DNA variations occur in regions of the genome that were once labeled as “junk DNA” because they do not code for proteins. We now know that these regions harbor genetic elements that control where, when, and to what extent specific genes are expressed to make functional RNA and protein products. Therefore, most trait-associated DNA variants are thought to alter not the gene itself, but rather, the regulatory elements that control the process of gene expression.The first thing that jumps out at you is repetition of the silly myth that noncoding DNA is equivalent to junk. Reputable scientists working in a genome group at a reputable university should know better that to propagate such nonsense. I've said it before and I'll keep saying it until it sinks in through very thick skulls: no knowledgeable scientist ever said that all noncoding DNA is junk [Stop Using the Term "Noncoding DNA:" It Doesn't Mean What You Think It Means].
The editors at Science have been alerted to this problem many times. They owe it to the scientific community to stop publishing articles from amateurs who don't understand the junk DNA controversy. Enough is enough.
The second thing that annoys me—and several Sandwalk readers—is the idea that regulatory sequences have just been discovered or that we have just learned that they can actually affect phenotypes by altering the timing and/or location of gene expression. We've known that for decades. The entire field of modern developmental biology is built on the idea that mutations in regulatory sequences can have profound effects on the visible phenotype of an organism. All reputable scientists should know of this work and they should be intimately familiar with bithorax and antennapedia. Books have been written on the subject1 and Nobel Prizes have been awarded. Events such as the Cambrian explosion and other radiations have been explained on the basis of small changes in the regulation of gene expression.
Almost everyone who studied molecular biology expected that the situation in humans would be no different. Phenotypic variation in physical characteristics was bound to be due to both mutations in the coding region AND mutations at regulatory sites. It would have been a surprise to find anything else. The papers just published in Science simply confirm what every reasonable person has expected since the 1980s (at least).
1. e.g. "Endless Forms Most Beautiful" by Sean Carroll and "The Plausibility of Life" by Marc Kirschner and John Gerhart.