Bloom syndrome protein

Bloom syndrome
Identifiers
Symbols	BLM ; BS; MGC126616; MGC131618; MGC131620; RECQ2; RECQL2; RECQL3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 47902
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Bloom syndrome, also known as BLM, is a human gene.

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination.

Further reading

• Woo LL, Onel K, Ellis NA (2007). "The broken genome: genetic and pharmacologic approaches to breaking DNA". Ann. Med. 39 (3): 208–18. doi:10.1080/08035250601167136. PMID 17457718.CS1 maint: Multiple names: authors list (link)
• McDaniel LD, Schultz RA (1992). "Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 7968–72. PMID 1518822.
• Ellis NA, Groden J, Ye TZ; et al. (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell. 83 (4): 655–66. PMID 7585968.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• German J, Roe AM, Leppert MF, Ellis NA (1994). "Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6669–73. PMID 8022833.CS1 maint: Multiple names: authors list (link)
• Foucault F, Vaury C, Barakat A; et al. (1998). "Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome". Hum. Mol. Genet. 6 (9): 1427–34. PMID 9285778.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Karow JK, Chakraverty RK, Hickson ID (1998). "The Bloom's syndrome gene product is a 3'-5' DNA helicase". J. Biol. Chem. 272 (49): 30611–4. PMID 9388193.CS1 maint: Multiple names: authors list (link)
• Kaneko H, Orii KO, Matsui E; et al. (1997). "BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal". Biochem. Biophys. Res. Commun. 240 (2): 348–53. doi:10.1006/bbrc.1997.7648. PMID 9388480.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wu L, Davies SL, North PS; et al. (2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. PMID 10734115.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells". Proc. Natl. Acad. Sci. U.S.A. 97 (10): 5214–9. doi:10.1073/pnas.090525897. PMID 10779560.CS1 maint: Multiple names: authors list (link)
• Wang Y, Cortez D, Yazdi P; et al. (2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. PMID 10783165.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Karow JK, Constantinou A, Li JL; et al. (2000). "The Bloom's syndrome gene product promotes branch migration of holliday junctions". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6504–8. doi:10.1073/pnas.100448097. PMID 10823897.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brosh RM, Li JL, Kenny MK; et al. (2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dutertre S, Ababou M, Onclercq R; et al. (2000). "Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase". Oncogene. 19 (23): 2731–8. doi:10.1038/sj.onc.1203595. PMID 10851073.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Barakat A, Ababou M, Onclercq R; et al. (2000). "Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome". Hum. Mutat. 15 (6): 584–5. doi:10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I. PMID 10862105.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brosh RM, Karow JK, White EJ; et al. (2000). "Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs". Nucleic Acids Res. 28 (12): 2420–30. PMID 10871376.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wu L, Davies SL, Levitt NC, Hickson ID (2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509.CS1 maint: Multiple names: authors list (link)
• Langland G, Kordich J, Creaney J; et al. (2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wang XW, Tseng A, Ellis NA; et al. (2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hu P, Beresten SF, van Brabant AJ; et al. (2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. PMID 11406610.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Freire R, d'Adda Di Fagagna F, Wu L; et al. (2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha". Nucleic Acids Res. 29 (15): 3172–80. PMID 11470874.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)