title: Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
abstract: Bloom syndrome is a rare autosomal recessive genetic disorder characterized by growth deficiency, unusual facies, sun-sensitive telangiectatic erythema, immunodeficiency and predisposition to cancer. The causative gene for Bloom syndrome is BLM, which encodes the BLM RecQ helicase homolog protein. The first part of this review describes a long-term follow-up study of two Bloom syndrome siblings. Subsequently, the focus is placed on the functional domains of BLM. Laboratory diagnosis of Bloom syndrome by detecting mutations in BLM is laborious and impractical, unless there are common mutations in a population. Immunoblot and immunohistochemical analyses for the detection of the BLM protein using a polyclonal BLM antibody, which are useful approaches for clinical diagnosis of Bloom syndrome, are also described. In addition, a useful adjunct for the diagnosis of Bloom syndrome in terms of the BLM function is investigated, since disease cells must have the defective BLM helicase function. This review also discusses the nuclear localization signal of BLM, the proteins that interact with BLM and tumors originating from Bloom syndrome.
authors.affiliation: Department of Pediatrics, Gifu University Graduate School of Medicine, 1-1 Yanaido,Gifu 501-1194, Japan. hideo@cc.gifu-u.ac.jp
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism*; D000818:Animals; D064007:Ataxia Telangiectasia Mutated Proteins; D001402:B-Lymphocytes / Q000502:physiology; D001816:Bloom Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D018797:Cell Cycle Proteins; D004265:DNA Helicases / Q000235:genetics* / Q000378:metabolism*; D004268:DNA-Binding Proteins; D005500:Follow-Up Studies; D015321:Gene Rearrangement; D005803:Genes, Immunoglobulin; D006412:Hematopoietic Stem Cells / Q000502:physiology; D006801:Humans; D008137:Longitudinal Studies; D008223:Lymphoma / Q000188:drug therapy / Q000235:genetics; D019913:Nuclear Localization Signals; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D053484:RecQ Helicases; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D019913:Nuclear Localization Signals; D011993:Recombinant Fusion Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases