Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Newly discovered mechanism can explain the Beckwith-Wiedemann syndrome

Researchers from Uppsala University have discovered a mechanism that silences several genes in a chromosome domain. The findings, published in today’s on-line issue of Molecular Cell, have implications in understanding the human disorder Beckwith-Wiedemann syndrome.

In mammals the cells contain two copies of each chromosome, one inherited from the mother and one from the father. The genes on the chromosomes can either be active or inactive. If a gene is active on the maternal chromosome, the corresponding gene is usually active also on paternal chromosome.

However, in some domains of the chromosome the activity is shut down on one of the chromosomes but not on the other. The genes in these domains cannot be activated the normal way but are completely silenced. The present study shows for the first time how this silencing of several genes on a chromosome is accomplished.

The research group, led by Chandrasekhar Kanduri, has studied a domain with several silenced genes on chromosome 7 in the mouse. The corresponding domain with silenced genes is located on the human chromosome 11. When part of this domain is transcribed a long RNA molecule, Kcnq1ot1-RNA, is formed. This RNA does not give rise to any protein, instead it mediates the silencing of eight to ten genes in a much larger area on the chromosome.

Based on their findings the researchers have suggested a model for how this is accomplished. The Kcnq1ot1-RNA binds to the DNA in the domain and recruits specific enzymes that chemically modify DNA-binding proteins. This modification makes the DNA inaccessible for transcription and thereby the genes cannot be activated. In addition, the Kcnq1ot1-RNA targets the silenced domain to a specific area in the cell nucleus. There it is protected during cell division and the genes will stay silenced also in the daughter cells.

– We show for the first time how a long RNA molecule can establish and maintain silencing of multiple genes in a large domain on the chromosome, says Chandrasekhar Kanduri. The popular belief is that it is only a gene located in the same area as where the long RNA molecule is transcribed from that can be silenced.

This mechanism is important for understanding the genetic disorder Beckwith-Wiedemann Syndrome. In this condition silencing of the chromosome 11 domain does not function properly and both copies of the genes in the domain become inactive, instead of just one. Less protein is produced from the genes, leading to the excess growth characteristics associated with the syndrome: enlargement of organs in the foetus and an increased risk for tumours in the affected organs.

Anneli Waara | alfa
Further information:

More articles from Life Sciences:

nachricht North and South Cooperation to Combat Tuberculosis
22.03.2018 | Universität Zürich

nachricht Researchers Discover New Anti-Cancer Protein
22.03.2018 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Researchers Discover New Anti-Cancer Protein

An international team of researchers has discovered a new anti-cancer protein. The protein, called LHPP, prevents the uncontrolled proliferation of cancer cells in the liver. The researchers led by Prof. Michael N. Hall from the Biozentrum, University of Basel, report in “Nature” that LHPP can also serve as a biomarker for the diagnosis and prognosis of liver cancer.

The incidence of liver cancer, also known as hepatocellular carcinoma, is steadily increasing. In the last twenty years, the number of cases has almost doubled...

Im Focus: Researchers at Fraunhofer monitor re-entry of Chinese space station Tiangong-1

In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.

Following the loss of radio contact with Tiangong-1 in 2016 and due to the low orbital height, it is now inevitable that the Chinese space station will...

Im Focus: Alliance „OLED Licht Forum“ – Key partner for OLED lighting solutions

Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.

They are united in their passion for OLED (organic light emitting diodes) lighting with all of its unique facets and application possibilities. Thus experts in...

Im Focus: Mars' oceans formed early, possibly aided by massive volcanic eruptions

Oceans formed before Tharsis and evolved together, shaping climate history of Mars

A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...

Im Focus: Tiny implants for cells are functional in vivo

For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.

In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Virtual reality conference comes to Reutlingen

19.03.2018 | Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

Latest News

Modular safety concept increases flexibility in plant conversion

22.03.2018 | Trade Fair News

New interactive map shows climate change everywhere in world

22.03.2018 | Earth Sciences

New technologies and computing power to help strengthen population data

22.03.2018 | Earth Sciences

Science & Research
Overview of more VideoLinks >>>