Bloom syndrome protein

Bloom syndrome protein

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

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: BLM Bloom syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=641| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Woo LL, Onel K, Ellis NA |title=The broken genome: genetic and pharmacologic approaches to breaking DNA. |journal=Ann. Med. |volume=39 |issue= 3 |pages= 208–18 |year= 2007 |pmid= 17457718 |doi= 10.1080/08035250601167136
*cite journal | author=McDaniel LD, Schultz RA |title=Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 17 |pages= 7968–72 |year= 1992 |pmid= 1518822 |doi=
*cite journal | author=Ellis NA, Groden J, Ye TZ, "et al." |title=The Bloom's syndrome gene product is homologous to RecQ helicases. |journal=Cell |volume=83 |issue= 4 |pages= 655–66 |year= 1995 |pmid= 7585968 |doi=
*cite journal | author=German J, Roe AM, Leppert MF, Ellis NA |title=Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6669–73 |year= 1994 |pmid= 8022833 |doi=
*cite journal | author=Foucault F, Vaury C, Barakat A, "et al." |title=Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1427–34 |year= 1998 |pmid= 9285778 |doi=
*cite journal | author=Karow JK, Chakraverty RK, Hickson ID |title=The Bloom's syndrome gene product is a 3'-5' DNA helicase. |journal=J. Biol. Chem. |volume=272 |issue= 49 |pages= 30611–4 |year= 1998 |pmid= 9388193 |doi=
*cite journal | author=Kaneko H, Orii KO, Matsui E, "et al." |title=BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. |journal=Biochem. Biophys. Res. Commun. |volume=240 |issue= 2 |pages= 348–53 |year= 1997 |pmid= 9388480 |doi= 10.1006/bbrc.1997.7648
*cite journal | author=Wu L, Davies SL, North PS, "et al." |title=The Bloom's syndrome gene product interacts with topoisomerase III. |journal=J. Biol. Chem. |volume=275 |issue= 13 |pages= 9636–44 |year= 2000 |pmid= 10734115 |doi=
*cite journal | author=Yankiwski V, Marciniak RA, Guarente L, Neff NF |title=Nuclear structure in normal and Bloom syndrome cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 10 |pages= 5214–9 |year= 2000 |pmid= 10779560 |doi= 10.1073/pnas.090525897
*cite journal | author=Wang Y, Cortez D, Yazdi P, "et al." |title=BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. |journal=Genes Dev. |volume=14 |issue= 8 |pages= 927–39 |year= 2000 |pmid= 10783165 |doi=
*cite journal | author=Karow JK, Constantinou A, Li JL, "et al." |title=The Bloom's syndrome gene product promotes branch migration of holliday junctions. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 12 |pages= 6504–8 |year= 2000 |pmid= 10823897 |doi= 10.1073/pnas.100448097
*cite journal | author=Brosh RM, Li JL, Kenny MK, "et al." |title=Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. |journal=J. Biol. Chem. |volume=275 |issue= 31 |pages= 23500–8 |year= 2000 |pmid= 10825162 |doi= 10.1074/jbc.M001557200
*cite journal | author=Dutertre S, Ababou M, Onclercq R, "et al." |title=Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase. |journal=Oncogene |volume=19 |issue= 23 |pages= 2731–8 |year= 2000 |pmid= 10851073 |doi= 10.1038/sj.onc.1203595
*cite journal | author=Barakat A, Ababou M, Onclercq R, "et al." |title=Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 584–5 |year= 2000 |pmid= 10862105 |doi= 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I |doilabel=10.1002/1098-1004(200006)15:6584::AID-HUMU283.0.CO;2-I
*cite journal | author=Brosh RM, Karow JK, White EJ, "et al." |title=Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs. |journal=Nucleic Acids Res. |volume=28 |issue= 12 |pages= 2420–30 |year= 2000 |pmid= 10871376 |doi=
*cite journal | author=Wu L, Davies SL, Levitt NC, Hickson ID |title=Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51. |journal=J. Biol. Chem. |volume=276 |issue= 22 |pages= 19375–81 |year= 2001 |pmid= 11278509 |doi= 10.1074/jbc.M009471200
*cite journal | author=Langland G, Kordich J, Creaney J, "et al." |title=The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair. |journal=J. Biol. Chem. |volume=276 |issue= 32 |pages= 30031–5 |year= 2001 |pmid= 11325959 |doi= 10.1074/jbc.M009664200
*cite journal | author=Wang XW, Tseng A, Ellis NA, "et al." |title=Functional interaction of p53 and BLM DNA helicase in apoptosis. |journal=J. Biol. Chem. |volume=276 |issue= 35 |pages= 32948–55 |year= 2001 |pmid= 11399766 |doi= 10.1074/jbc.M103298200
*cite journal | author=Hu P, Beresten SF, van Brabant AJ, "et al." |title=Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability. |journal=Hum. Mol. Genet. |volume=10 |issue= 12 |pages= 1287–98 |year= 2001 |pmid= 11406610 |doi=
*cite journal | author=Freire R, d'Adda Di Fagagna F, Wu L, "et al." |title=Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalpha. |journal=Nucleic Acids Res. |volume=29 |issue= 15 |pages= 3172–80 |year= 2001 |pmid= 11470874 |doi=

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Bloom-Syndrom-Protein — Masse/Länge Primärstruktur 1417 Aminosäuren …   Deutsch Wikipedia

  • Bloom syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 1505 ICD10 = ICD9 = ICD9|757.39 ICDO = OMIM = 210900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 54 MeshID = D001816 Bloom syndrome (BLM) [OMIM|210900] is a rare autosomal recessive… …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Bloom&’s syndrome — Rare human autosomal recessive defect associated with genomic instability causing short stature, immunodeficiency and increased risk of all types of cancer. Caused by mutation of BLM locus on chromosome 15q. BLM protein has homology to helicases …   Dictionary of molecular biology

  • Nijmegen breakage syndrome — Classification and external resources OMIM 251260 DiseasesDB 32395 eMedicine …   Wikipedia

  • Chromosome instability syndrome — Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.[1] The following chromosome instability… …   Wikipedia

  • Cockayne syndrome — Classification and external resources ICD 10 Q87.1 (ILDS Q87.110) ICD 9 759.8 …   Wikipedia

  • Mismatch repair cancer syndrome — Classification and external resources OMIM 276300 DiseasesDB 29793 eMedicine …   Wikipedia

  • Aicardi–Goutières syndrome — Aicardi Goutières syndrome Classification and external resources OMIM 225750 DiseasesDB 31680 GeneReviews …   Wikipedia

  • Muir–Torre syndrome — Classification and external resources Micrograph of a sebaceous adenoma, as may be seen in Muir Torre syndrome. H E stain. OMIM …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”