Bloom syndrome protein

From Wikipedia, the free encyclopedia

Bloom syndrome

Identifiers

BLM; BS; MGC126616; MGC131618; MGC131620; RECQ2; RECQL2; RECQL3

External IDs

OMIM: 604610 MGI: 1328362 HomoloGene: 47902

Gene ontology
Molecular Function:	• nucleotide binding • DNA binding • ATP-dependent DNA helicase activity • protein binding • ATP binding • hydrolase activity • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
Cellular Component:	• intracellular • nucleus
Biological Process:	• DNA replication • DNA repair • DNA recombination • antimicrobial humoral response

Orthologs

Human

Mouse

Refseq

NM_000057 (mRNA)
NP_000048 (protein)

NM_001042527 (mRNA)
NP_001035992 (protein)

Location

Chr 15: 89.06 - 89.16 Mb

Chr 7: 80.33 - 80.41 Mb

Pubmed search

[1]

[2]

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.^[1]

[edit] References

^ Entrez Gene: BLM Bloom syndrome.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.