Scientists around the world redefine the human genome

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It is not often that such high-impact journals such as ‘Science’, ‘Nature’, ‘Genome Research’ or ‘Genome Biology’ agree to publish data simultaneously from a job, but in this case the results are worth the Union for exposing 30 studies that discover the darkest part of the genome .


Thanks to this work, which for years was considered junk DNA seem a waste ceases to become a key part of health and disease.

After the sequencing of human DNA in 2000, much remained to be learned about the ‘encyclopedia’ which contains all the instructions for building the human body. Hence, several projects were initiated to learn more genome and know how it works.

The 30 studies now published are encompassed within the ENCODE project , acronym for Encyclopedia of DNA elements, and have been conducted in 32 laboratories in different countries among which include the Centre for Genomic Regulation in Barcelona and the Centre National Cancer Research Centre (CNIO) in Madrid.

What they show is the complete genomic landscape . If until now the protagonists of attention were the genes, the ENCODE project gives light to the rest of the genome and reveals that about 80% have activity .

Scientists have focused on 2% of the genome or, which is, in the genes. One of the main reasons is that they are the ones that produce the proteins, which are structural and functional units of cells, the ‘bricks’ of the body without which there would be no bodies or other components. But there was an important part of DNA, which had not been paid much attention. However, they reveal the data provided by 440 researchers is that this part of the genome that seemed to have no function itself involved regulating the process .

These buffer zones are like switches in the house that is our body. Are those that activate or deactivate all household circuits. This part of the genome or turn off genes and also regulate when, how and how much protein you need to produce, ie, is fundamental in human biology, whereas Scientists suggest changing the definition of gene.

“The regulatory elements are responsible for ensuring that the lens proteins are in the lenses of your eyes and that hemoglobin is in your blood, and not elsewhere.’s Very complex. Processing information and intelligence of the genome lies in the regulatory elements. With this project, we could probably go to understand less than 5% to about 75% of them, “said Jim Kent, director of the Center for Coordination of Data (UCSC) of ENCODE.

Diseases provided from the fetal stage

On the other hand, have also seen that 88% of these regulatory regions contain DNA variants associated with disease that is activated during embryonic development. This means that from the fetal stage determines the health of human beings, but then the appearance of many of these possible diseases occur if there are particular circumstances in life.

Furthermore, it has been determined that the DNA changes occur in regulatory regions associated with the disease of certain organs or cells . For example, DNA variants associated with diabetes occur in the genome now studied, but not in any point, but in the area that regulates genes that control aspects of sugar metabolism or insulin secretion.Another example are the variants that occur in areas that regulate the immune system and have been linked to diseases such as multiple sclerosis, asthma or lupus.

In short, human DNA comprises genes and other areas that influence them . So far only known and studied the first, that would be something like the protagonists of a film, but the ENCODE work has revealed that there are other components that movie as or more important than the characters, the cast and People who make that movie is the human body.

And that’s it? Well no. The data have been obtained by analyzing 147 cell types, including antibodies or other elements 235. However, many more still missing studying cells and tissues of our body to better understand how our DNA and what it does to produce one or other organs. In addition, this project shows what is a still but lack the dynamism of the process.

The ultimate goal of this and other projects, such as the 1000 genomes, is to understand the functioning of the encyclopedia from which we have only known their pages, so in the future to develop specific preventive and curative therapies for each person . Technological advances have allowed this type of analysis and are expected in the future can be much cheaper than you may think you can ‘read’ the DNA of each person, so you can predict what diseases will develop or which therapies are you need to block or change any part of your genome. For now, this is a dream, the reality is that we know a little more of the human encyclopedia. 

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