Cockayne Syndrome is a recessively inherited disorder that belongs to a group of diseases in which defects in one of the numerous DNA repair systems lead to non-functioning proteins and, thus, to severe health impairments. These disorders also include, for example, Xeroderma pigmentosum and a type of hereditary bowel cancer.
However, symptoms of Cockayne Syndrome, which is a very rare disease, are particularly severe, including dwarfism, mental retardation, hearing and vision impairments; affected individuals have a characteristically formed small head, they age prematurely and die younger. The scale of these defects suggested that a dysfunctional DNA repair mechanism alone cannot be responsible for this whole range of impairments.
Cockayne Syndrome is characterized by a defect in the CSB protein, which is the main component of a particular DNA repair system. Research results of several working groups had already suggested that CSB is additionally involved in transcription, i.e. the conversion of DNA to RNA. However, the exact mechanism had remained unknown.
In each cell, various RNA types are responsible for specific tasks. Thus, the so-called rRNA is a key component of the ribosomes, the protein factories of the cell. A research group headed by Professor Dr. Ingrid Grummt of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) has now shown that CSB is pivotal in the production of rRNA molecules.
A basic prerequisite for the conversion of DNA to RNA is the accessibility of genes, which are normally tightly packed in the chromosome. Only if the genes are accessible can the enzyme RNA polymerase go about its work and synthesize new RNA molecules according to the DNA code. This is where CBS comes into play: It functions as an adapter between polymerase and the G9a protein, which acts like an icebreaker - making specific regions of the genetic material accessible for polymerase by chemically modifying the protein scaffold of the chromosome.
Without functioning CBS, the binding of polymerase I and G9a fails and the genes coding for rRNAs remain inaccessible for polymerase. The lack of rRNAs eventually leads to a standstill of protein synthesis in the cell – the most dramatic of imaginable consequences for an organism. This newly discovered function of CBS explains why a defect of this enzyme has such severe effects on the organism.
The task of the Deutsches Krebsforschungszentrum in Heidelberg (German Cancer Research Center, DKFZ) is to systematically investigate the mechanisms of cancer development and to identify cancer risk factors. The results of this basic research are expected to lead to new approaches in the prevention, diagnosis and treatment of cancer. The Center is financed to 90 percent by the Federal Ministry of Education and Research and to 10 percent by the State of Baden-Wuerttemberg. It is a member of the Helmholtz Association of National Research Centers (Helmholtz-Gemeinschaft Deutscher Forschungszentren e.V.).
Press Officer | alfa
Matchmaking with consequences
17.10.2017 | Julius-Maximilians-Universität Würzburg
Taking screening methods to the next level
17.10.2017 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
It's possible to produce hydrogen to power fuel cells by extracting the gas from seawater, but the electricity required to do it makes the process costly. UCF...
Mercury, our smallest planetary neighbor, has very little to call an atmosphere, but it does have a strange weather pattern: morning micro-meteor showers.
Recent modeling along with previously published results from NASA's MESSENGER spacecraft -- short for Mercury Surface, Space Environment, Geochemistry and...
17.10.2017 | Event News
10.10.2017 | Event News
10.10.2017 | Event News
17.10.2017 | Life Sciences
17.10.2017 | Event News
17.10.2017 | Physics and Astronomy