Function of 80% of the Human Genome Charted

ananyo writes "In what is likely to be a historic moment in science, ENCODE, the Encyclopedia of DNA Elements, has published 30 papers in Nature, Genome Research and Genome Biology today, assigning some sort of function to roughly 80% of the genome, including more than 70,000 'promoter' regions — the sites, just upstream of genes, where proteins bind to control gene expression — and nearly 400,000 'enhancer' regions that regulate expression of distant genes. The project was designed to pick up where the Human Genome Project left off. Although that massive effort revealed the blueprint of human biology, it quickly became clear that the instruction manual for reading the blueprint was sketchy at best. Researchers could identify in its 3 billion letters many of the regions that code for proteins, but those make up little more than 1% of the genome, contained in around 20,000 genes. ENCODE, which started in 2003, aims to catalog the 'functional' DNA sequences between genes, learn when and in which cells they are active and trace their effects on how the genome is packaged, regulated and read. Nature has set up an ENCODE site with an explorer, that groups the papers by topic, and collects all the papers, which are available free."

Re:What about the 'junk' DNA?

[fuzzyfuzzyfungus]

If memory serves, 'junk' was some unfortunate-but-persistent description of non-coding regions(which are, indeed, the great majority of the genome); but that work on what exactly the regions that don't code do do has advanced considerably since then...

Re:What about the 'junk' DNA?

[HeckRuler]

It's time you wised up [wikipedia.org] (it's RIGHT THERE). Junk DNA is non-encoding. Meaning it doesn't get used to make proteins. This was thought to be the entire purpose of DNA, so junk DNA was like commented out code or dead code [wikipedia.org]. But we learned that this genes have other uses. Like some DNA affects the trans-coding of nearby genes. And it appears some non-encoding DNA is still selected for, so it probably has some unknown function.

But nature most certainly deals in junk. And there is DNA in you right now that's non-encoding, non-functional, and not selected for. IE, it's junk. It just happens to be the random uninitialized value or a previous mismatch of old code that was cut long ago. Deal with it.

Re:Wait for the lawsuits

[whydavid]

This is probably the single-most important factor in determining whether or not we'll see "personalized medicine" within the next 50 years. The fact that a company owns a patent on the idea of testing the BRCA1 and BRCA2 genes for breast cancer susceptibility is absurd.