It’s a Jungle in There: ENCODE and the Redefinition of the Gene

September 5th saw the simultaneous publication of more than 30 papers in Nature, Genome Research and Genome Biology detailing the findings of the ENCODE project (Encyclopedia of DNA Elements)—an international collaborative research effort involving the work of more than 400 scientists in 32 groups over the last eight years. Building on the work of the human genome project, the goal of the ENCODE project was to catalog and describe all the functional elements in the human genome.

The human genome project revealed the surprising fact that only 1% of our genome encodes proteins–a mere 20,000 genes. The function of the other 99% of our DNA remained a mystery. The ENCODE project was established in 2003 to survey and catalog these unknown DNA regions in a systematic manner. Continue reading “It’s a Jungle in There: ENCODE and the Redefinition of the Gene”

Thermometers in Wine, the Edge of the Solar System and Redefining Junk DNA: Science News of the Week

Science keeps on producing new discoveries every week. It can be difficult to keep up with the latest news even when it is part of your job. There were a few science stories that caught my attention this week so I thought I would share them.

Galilean Thermometer Not So Galilean” was a surprising news item. I love my Galileo thermometer received as a Christmas gift several years ago. However, as Peter Loyson’s commentary in the Journal of Chemical Education points out, Galileo Galilei invented a thermometer but it was based on air. The one attributed to him was created by a Florentine group of academics and technicians founded by the Grand Duke Ferdinand II and his brother Leopoldo. And those first thermometers? Used wine to float the little glass balls.

Voyager 1, which just turned 35 on September 5, and Voyager 2 are pushing at the boundaries of our solar system as well as our understanding of space. In fact, NASA is saying that Voyager 1 was expected to pass through the heliopause, the edge that defines the end of the influence of our sun and the beginning of true interstellar space, but recent data indicated that this edge is further than we imagined. In fact, it could lie seven years beyond Voyager 1’s current position, and the battery in each Voyager estimated to deplete between 2020 and 2025. Still, these two small satellites have boldly gone beyond their initial mission to explore the far reaches of space and are still sending data back to our humble Earth.

Sequencing the human genome was an accomplishment but just this week, the scientists involved in the Encyclopedia of DNA Elements (ENCODE) project published 30 papers in Nature and other journals (summarized here). With the complete human sequence in hand, most scientists thought the items of interest in the genome were the genes, the coding regions. But as researchers started to dig into the data and use it for their experiments, it became evident understanding the genome was more complex than the sequence. The ENCODE project is a consortium of scientists that wanted to understand the entire genome and ended up finding that the 2% that encodes proteins is controlled by those sequences between genes nicknamed “junk DNA”. It is an incredible effort that has implications across aging and cancer, and ENCODE claims it can assign functions to 80% of the genome.

The Ongoing Legacy of the Human Genome Sequence

When the first draft sequence of the human genome was announced, I was a research assistant for a lab that was part of the Genome Center of Wisconsin where I created shotgun libraries of bacterial genomes for sequencing. Of course, the local news organizations were all abuzz with the news and sought opinions on what this meant for the future, including that of the lab’s PI and oddly enough, my own. While I do not recall the exact words I offered on camera, I believe they were something along the lines of this is only the first step toward the future of human genetics. Ten years later, we have not fulfilled the potential of the grandiose words used to report the first draft sequence but have gained enough knowledge of what our genome holds to only intrigue scientists even more.

Continue reading “The Ongoing Legacy of the Human Genome Sequence”