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New gene associated with Fanconi anemia 'explains' hallmark chromosomal instability

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 study's 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.

"Given these new findings, we can now suggest that DNA double-strand breaks are the lesions that underlie the pathology of this disease," says Auerbach, who is internationally known for her work on the disorder and for the large Fanconi anemia registry she maintains at Rockefeller.

Fanconi anemia (FA) is an inherited disorder characterized by developmental abnormalities, life-threatening bone-marrow failure, and predisposition to a variety of cancers. Researchers have long known that patients with the disease have chromosomes that are not readily repaired when they break; in fact, a blood test created in 1981 by Auerbach, which uses a chemical that specifically increases that damage, is now used worldwide to diagnose FA.

Auerbach and others sus
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Contact: Joseph Bonner
bonnerj@rockefeller.edu
212-327-8998
Rockefeller University
21-Aug-2005


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