title: BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins.
abstract: BLM, the protein encoded by the gene mutated in Bloom's syndrome (BS), is a phylogenetically highly conserved DNA helicase that varies in amount and distribution in the nucleus during the cell-division cycle. It is undetectable in many cells as they emerge from mitosis but becomes abundant during G(1) and remains so throughout S, G(2), and mitosis. BLM is widely distributed throughout the nucleus but at certain times also becomes concentrated in foci that vary in number and size. It co-localizes transitorily with replication protein A (RPA) and promyelocytic leukemia protein (PML) nuclear bodies, and at times it enters the nucleolus. The observations support the hypothesis that BLM is distributed variously about the nucleus to manipulate DNA in some, very possibly several, nucleic acid transactions, when and where they take place. The specific transaction(s) remain to be identified. Although absence from the nucleus of functional BLM - the situation in BS - obviously is not lethal in the human, other helicases would appear to be unable to substitute for it completely, witness the hypermutability and hyperrecombinability of BS cells.
authors.affiliation: Laboratory of Human Genetics, Department of Pediatrics, Weill Medical College of Cornell University, New York, NY 10021, USA. mms2002@mail.med.cornell.edu
authors.forename: M M
authors.initials: MM
authors.lastname: Sanz
authors.forename: M
authors.initials: M
authors.lastname: Proytcheva
authors.forename: N A
authors.initials: NA
authors.lastname: Ellis
authors.forename: W K
authors.initials: WK
authors.lastname: Holloman
authors.forename: J
authors.initials: J
authors.lastname: German
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism*; D001402:B-Lymphocytes; D001816:Bloom Syndrome / Q000235:genetics* / Q000378:metabolism; D002453:Cell Cycle; D002461:Cell Line, Transformed; D002466:Cell Nucleolus / Q000737:chemistry / Q000378:metabolism; D002478:Cells, Cultured; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000378:metabolism; D005347:Fibroblasts; D005455:Fluorescent Antibody Technique; D018922:HL-60 Cells; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*; D021122:Protein Subunits; D021381:Protein Transport; D053484:RecQ Helicases; D051716:Replication Protein A
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D021122:Protein Subunits; C497167:RPA1 protein, human; D051716:Replication Protein A; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases