NEW YORK (Reuters Health) - Genetic mutations lead to inactivation of the gene FANCB and underlie Fanconi’s anemia, a rare genetic disorder characterized by congential defects, cancer susceptibility and progressive bone marrow failure, researchers report in an advance online publication of the November issue of Nature Genetics.
“Fanconi’s anemia is a disease that appears to be the result of breakdowns in DNA repair mechanisms,” investigator Dr. Weidong Wang told Reuters Health. Such breakdown may have wider implications. It has been theorized “that DNA damage, which gradually accumulates as we age, leads to malfunctioning genes and deteriorating tissues and organs as well as increased risks of cancer.”
Dr. Wang of the National Institute of Aging, Baltimore and colleagues found that FANCB is subject to X-chromosome inactivation. Thus, the FANCB mutation is transmitted in a sex-linked manner. Other Fanconi’s anemia genes are transmitted non-discriminately between both sexes.
This, said Dr. Wang, means that all such patients will be males, because they have a single X chromosome and they will all receive their mutant FANCB gene from their mothers.
Moreover, conclude the investigators, because FANCB is present only in one copy -- other Fanconi’s anemia genes are present in two copies --this makes it “a potentially vulnerable component of the cellular machinery that maintains genomic integrity.”
Source: Nat Genet 2004. [ Google search on this article ]
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