DNA genomic waste with great benefits

Research on genetically-related diseases: putative "junk DNA" with great benefits

06.09.2012

Researchers made a big step towards decoding human DNA. As part of the „Encode“-Project they discovered a huge control system. senseless „Garbage DNA“, which has accumulated in the course of evolution, there is therefore hardly. The results of the scientists make an important contribution to the research of genetic diseases.

DNA is not just genes and genes „Garbage DNA“
In September 2003, the US National Human Genome Research Institute (NHGRI) initiated the research project „Encode“ (ENCyclopedia Of DNA Elements) with the aim to identify and characterize all functional elements of the human genome as well as the transcriptome. Thus, the mammoth project succeeded the human genome project, in which the order of the genome building blocks of humans was finally determined.

Now the researchers have taken another important step in this direction. „Encode“ comes to the conclusion that at least 80 percent of human deoxyribonucleic acid (DNA) has a function or has the task of a huge control apparatus. „There is much more to genetic material than genes, "confirms Mark Gerstein, bioinformatician at Yale University opposite the science magazine „Science“.

The so-called „Garbage DNA“, useless sections of DNA that have accumulated in the course of evolution, there are hardly, according to researchers. In total, more than 440 scientists from over 30 institutions are on „Encode“ involved. In science magazines like „Science“ and „Genome Research“ are numerous contributions to the results of the mammoth project published.

Decryption of DNA extends knowledge about genetic diseases
In the context of „Encode“ The researchers are also gaining new insights into genetically determined diseases. For example, it was possible to study diseases that would otherwise be very difficult to achieve, said Ewan Birney, bioinformatics scientist at the European Bioinformatics Institute (EMBL-EBI), who is responsible for the „Encode“-Analysis conducted. More than 1,640 records of 147 cell types have been added to the database „Encode“-Consortium in „Science“.

The supposed one „Garbage DNA“ was identified in the analysis as a huge control apparatus that is by no means functionless. „Our genome is teeming with switches: millions of bodies responsible for turning a gene on or off“, Birney said in a statement by the EMBL-EBI. Thus, "not only changes in the genes but also in these hitherto neglected areas can trigger diseases".

John Stamatoyannopoulos from the University of Washington in Seattle and his team discovered such connections for Crohn's disease, multiple sclerosis and heart disease. Deviations in the regulatory areas apart from the actual genes are significantly involved in these and other diseases. „In nine out of ten cases, genetic variations related to diseases are not found in the genes, "he says „Encode“-Researcher Mike Pazin.

To what extent the results of the „Encode“-Projects have clinical relevance, will show in the future. For example, the control of genes in many cell types is still largely unknown, although there are serious differences. In addition, most of the analyzes are based on cells grown in the laboratory. Often, however, it comes to anomalies and deviations due to the artificial environment. (Ag)

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Image: Martin Gapa