title: The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining.
abstract: Bloom syndrome is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasias of the face, sun sensitivity, stunted growth, and immunodeficiency. Chromosome instability syndromes have a common feature, being associated at high frequency with neoplasia. BS is considered as one of the chromosome instability syndromes since the fibroblasts or lymphocytes of BS patients show excessive spontaneous chromosome instability. The causative gene of BS (BLM) was identified as a RecQ helicase homologue. In this review, we showed the characteristic phenotypes of BS, especially two Japanese siblings. In the latter of the review, the functional domains of BLM, those are nuclear localization signal and the interacting proteins such as ATM, are shown. Several lines of reports indicates that BLM helicase is involved in the re-initiation of DNA replication at sites where replication forks have arrested or collapsed. To elucidate the precise function of RecQ helicase in DNA repair and replication aims not only to improve our understanding of the molecular basis for tumorigenesis, but also to extend the range of potential therapeutic targets.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8705, Japan. hideo@cc.gifu-u.ac.jp
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000251:Adenosine Triphosphatases / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000818:Animals; D001816:Bloom Syndrome / Q000235:genetics; D002467:Cell Nucleus / Q000378:metabolism; D004247:DNA / Q000737:chemistry*; D004265:DNA Helicases / Q000502:physiology*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000276:immunology; D008223:Lymphoma / Q000235:genetics; D008297:Male; D051379:Mice; D008957:Models, Genetic; D005810:Multigene Family; D009154:Mutation; D009369:Neoplasms / Q000628:therapy; D053484:RecQ Helicases; D011995:Recombination, Genetic; D013997:Time Factors
chemical_list: D004247:DNA; D000251:Adenosine Triphosphatases; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases