title: On BLM helicase in recombination-mediated telomere maintenance.
abstract: Bloom syndrome (BS) is an extremely rare, autosomal recessive genetic syndrome of humans. Patients with BS are predisposed to almost all forms of cancer and also display premature aging phenotypes. These patients are diagnosed in the clinics by hyper-recombination phenotype that is manifested by high rates of sister chromatid exchange. The gene mutated in BS, designated BLM, lies on chromosome 15q26.1 and encodes a RecQ-like ATP-dependent 3'-5' helicase, which functions in DNA double-strand break repair processes such as non-homologous end joining, homologous recombination-mediated repair, resolution of stalled replication forks and synthesis-dependent strand annealing, although its precise functions at the telomeres are speculative. Recently it has been suggested that the BLM helicase may play important roles in Telomerase-independent forms of telomere elongation or alternative lengthening of telomeres (ALT). A mechanism that although provides cells with a window of opportunity to save ends of their chromosomes, puts these Telomerase (-/-) cells under continuous stress. BLM localization within ALT-associated PML nuclear bodies in telomerase-negative immortalized cell lines and its interaction with the telomere-specific proteins strengthens that suggestion. Here, I begin by outlining features common to all RecQ helicases. I, then, survey evidences that implicate possible roles of BLM helicase in this recombination-mediated mechanism of telomere elongation.
authors.affiliation: Division of Molecular Diagnosis and Research, Booali Medical Laboratory, Qom, Iran. sarallahrezazadeh@yahoo.com
authors.forename: Sarallah
authors.initials: S
authors.lastname: Rezazadeh
mesh_terms: D000375:Aging; D001816:Bloom Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D053903:DNA Breaks, Double-Stranded; D004260:DNA Repair / Q000235:genetics; D004261:DNA Replication / Q000235:genetics; D006801:Humans; D009369:Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D053484:RecQ Helicases / Q000737:chemistry / Q000235:genetics*; D011995:Recombination, Genetic; D019098:Telomerase / Q000235:genetics; D059505:Telomere Homeostasis / Q000235:genetics*
chemical_list: D019098:Telomerase; C097151:Bloom syndrome protein; D053484:RecQ Helicases