Surprising findings from just five patients has led to the first proof of how the rare disorder Fanconi anemia causes chromosomal instability. A team of international researchers, led by scientists at Rockefeller University, reports the findings in the September issue of Nature Genetics.
The scientists found a gene mutation not previously known to be related to Fanconi anemia, and they say that BRIP1 is the first gene associated with the disease whose protein has a known function. That protein, known as BACH1, normally helps DNA unwind in order to be repaired, and if it cannot function, chromosomal damage accumulates, they say.
"We have known for decades that patients with Fanconi anemia have chromosomes that break easily, but none of the many genes previously found to be associated with the disease explained this phenomenon. This new link to BRIP1 mutations may have revealed a central player in development of the disease," says the studys principal investigator, Arleen Auerbach, Ph.D., who directs the Laboratory of Human Genetics and Hematology at Rockefeller. Working with her were researchers from two German universities and from Memorial Sloan-Kettering Cancer Center in New York.
Joseph Bonner | EurekAlert!
Research team creates new possibilities for medicine and materials sciences
22.01.2018 | Humboldt-Universität zu Berlin
Saarland University bioinformaticians compute gene sequences inherited from each parent
22.01.2018 | Universität des Saarlandes
On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.
We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.
Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...
At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.
No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...
Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.
Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...
08.01.2018 | Event News
11.12.2017 | Event News
08.12.2017 | Event News
22.01.2018 | Materials Sciences
22.01.2018 | Earth Sciences
22.01.2018 | Life Sciences