BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity

摘要: Bloom's syndrome (BS) is a rare human genetic disorder characterized by dwarfism, immunodeficiency, genomic instability and cancer predisposition. We have previously purified three complexes containing BLM, the helicase mutated in this disease. Here we demonstrate that BLAP75, novel protein putative OB-fold nucleic acid binding domain, an integral component of BLM complexes, essential for their stability vivo. Consistent with role BLM-mediated processes, BLAP75 colocalizes subnuclear foci response to DNA damage, its depletion impairs recruitment these foci. Depletion siRNA also results deficient phosphorylation during mitosis, as well defective cell proliferation. Moreover, cells depleted display increased level sister-chromatid exchange, similar siRNA. Thus, BLM-associated cellular machinery maintains genome integrity.