Research into genetically caused diseases: supposed "junk DNA" with great benefits
Researchers have taken a big step towards decoding human DNA. As part of the “Encode” project, they discovered a huge control system. There is hardly any senseless “garbage DNA” that has accumulated in the course of evolution. The results of the scientists make an important contribution to the study of genetic diseases.
DNA does not only consist of genes and "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 of all functional elements of the human genome as well identify and characterize the transcriptome. The mammoth project thus succeeded the human genome project, in which the sequence of the human genome building blocks was finally determined.
Now the researchers have taken another important step on this path. “Encode” comes to the conclusion that at least 80 percent of human deoxyribonucleic acid (DNA) has a function or the task of an enormous control apparatus. "There is a lot more to genetics than genes," confirms Mark Gerstein, bioinformatician at Yale University to the science magazine "Science".
The so-called "garbage DNA", useless sections of the DNA that have accumulated in the course of evolution, hardly exist, according to researchers. In total, more than 440 scientists from over 30 institutions are involved in "Encode". Numerous articles on the results of the mammoth project have been published in science magazines such as "Science" and "Genome Research".
Decoding the DNA expands knowledge about genetic diseases As part of "Encode", the researchers are also gaining new knowledge about genetically caused diseases. Ewan Birney, bioinformatician at the European Bioinformatics Institute (EMBL-EBI), who led the “Encode” analysis, said that studies on diseases that would otherwise be very difficult to carry out were possible. The "Encode" consortium writes in "Science" that more than 1,640 data records on 147 cell types have been added to the database.
The supposed "garbage DNA" was identified in the analysis as a huge control apparatus that is by no means inoperative. "Our genome is full of switches: millions of places that are responsible for whether a gene is switched on or off," Birney explains in a message from the EMBL-EBI. Accordingly, "not only changes in the genes but also in these previously neglected areas can trigger diseases".
John Stamatoyannopoulos from the University of Washington in Seattle and his team uncovered 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," reports the "Encode" researcher Mike Pazin.
The extent to which the results of the “Encode” project actually have clinical relevance will be shown in the future. For example, the control of genes is still largely unknown in many cell types, although there are serious differences. In addition, most analyzes are based on cells that have been grown in the laboratory. However, there are often anomalies and deviations due to the artificial environment. (ag)
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