The Encyclopedia of You: Scientists publish human genome map

Geneticists in the United States have come out with what may well be the ultimate encyclopedia: a comprehensive map of the human genome —the thing that makes you you.

 

On September 5, the National Human Genome Research Institute (NHGRI) of the United States’ National Institutes of Health came out with ENCODE: the Encyclopedia of DNA Elements.

 

This wealth of human genome data is the culmination of a decade-long project dubbed as The Human Genome Project of more than 440 researchers in 32 laboratories all over the globe. The project’s main aim is to produce a “more dynamic picture (that) gives the first holistic view of how the human genome actually does its job,” according to the press release.

 

For over ten years, scientists all over the world brought 147 different types of cells to 24 types of experiments. Their main goal is to catalog every letter—nucleotide—that does something. And they succeeded.

 

In fact, the project produced an “almost complete order of the 3 billion pairs of chemical letters in the DNA (deoxyribonucleic acid) that represents the human genetic code.”

 

ENCODE’s findings are published now in more than 30 papers on different journals.

 

Turning back the page

 

In 2001, The Human Genome Project produced a blueprint —an overview, a tantalizing appetizer of sorts— of those As, Gs, Cs, and Ts that are the bases of code of our being. However, at that time, there was so much that had yet to be understood of what that code contained.

 

It was previously thought that only 1.5 percent of the genome is “doing something”: specifically that part of the genome that contains instructions to make proteins for our cells.

 

But ENCODE found that the majority of the genome is still “rife with functional elements,” according to a blog entry on Discovery Magazine.

 

Dr. Ewan Birney of the European Bioinformatics Institute in the United Kingdom said in a statement, "We've come a long way.” Birney is also the lead analysis coordinator the ENCODE project.

 

"By carefully piecing together a simply staggering variety of data, we've shown that the human genome is simply alive with switches, turning our genes on and off and controlling when and where proteins are produced,” Birney added.

 

Not junk at all

 

According to the ENCODE project, 80 percent of the human genome has “biochemical functions.” Some of the genes can be switched on and off. Others are converted into RNA (ribonucleic acid) molecules. Some even affect how DNA is “packaged.”

 

Meanwhile, the remaining 20 percent may not be redundant or useless, said Birney.

 

He explained that while the human body is made up of a few thousands of cells, they were only able to catalog more than a hundred.

 

As such, Birney said, “It’s likely that 80 percent will go to 100 percent.”

 

Free for all

 

The ENCODE data is becoming a fundamental resource for researchers on human biology, genetics, and diseases.

 

Dr. Mike Pazin of NHGRI said in a statement, “We were surprised that disease-linked genetic variants are not in protein-coding regions."

 

"Far from being junk DNA, this regulatory DNA clearly makes important contributions to human health and disease,” Pazin added.

 

As any buffet, the data is available for everyone to use via the internet.

 

Data sets can be accessed through the ENCODE project portal (www.encodeproject.org), the University of California-Santa Cruz genome browser (http://genome.ucsc.edu/ENCODE/), the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/geo/info/ENCODE.html), and the European Bioinformatics Institute.

 

Human gene in 3D

 

Because the ENCODE project provides a somewhat 3D view of the human genome, a well-known scientific journal decided to put up as an interactive portal for studies of or related to it.

 

Nature came out with a microsite (http://www.nature.com/encode/) which collates studies, videos, and other information about the project and integrated it into various analyses and resources.

 

It even comes with an iPad app.

 

Wikipedia, eat your heart out.  — TJD, GMA News