[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS BLM ARG-672; ILE-843 AND SER-1055.
DOI=10.1016/0092-8674(95)90105-1; PubMed=7585968 [NCBI, ExPASy, EBI, Israel, Japan]
Ellis N.A.,
Groden J.,
Ye T.-Z.,
Straughen J.,
Lennon D.J.,
Ciocci S.,
Proytcheva M.,
German J.;
"The Bloom's syndrome gene product is homologous to RecQ helicases.";
Cell 83:655-666(1995).
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[2]
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NUCLEOTIDE SEQUENCE, AND FUNCTION.
TISSUE=B-cell;
DOI=10.1074/jbc.272.49.30611; PubMed=9388193 [NCBI, ExPASy, EBI, Israel, Japan]
Karow J.K.,
Chakraverty R.K.,
Hickson I.D.;
"The Bloom's syndrome gene product is a 3'-5' DNA helicase.";
J. Biol. Chem. 272:30611-30614(1997).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-137; MET-298; GLN-591; LEU-868; ILE-1205 LYS-1213 AND ILE-1321.
Livingston R.J.,
Rieder M.J.,
Rajkumar N.,
Downing T.K.,
Olson A.N.,
Nguyen C.P.,
Gildersleeve H.,
Cassidy C.M.,
Johnson E.J.,
Swanson J.E.,
McFarland I.,
Yool B.,
Park C.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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NUCLEAR LOCALIZATION SIGNAL.
DOI=10.1006/bbrc.1997.7648; PubMed=9388480 [NCBI, ExPASy, EBI, Israel, Japan]
Kaneko H.,
Orii K.O.,
Matsui E.,
Shimozawa N.,
Fukao T.,
Matsumoto T.,
Shimamoto A.,
Furuichi Y.,
Hayakawa S.,
Kasahara K.,
Kondo N.;
"BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.";
Biochem. Biophys. Res. Commun. 240:348-353(1997).
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[6]
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IDENTIFICATION OF BLM AS MEMBER OF BASC.
DOI=10.1101/gad.827000; PubMed=10783165 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Y.,
Cortez D.,
Yazdi P.,
Neff N.,
Elledge S.J.,
Qin J.;
"BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.";
Genes Dev. 14:927-939(2000).
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[7]
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INTERACTION WITH FANCD2, AND PHOSPHORYLATION.
DOI=10.1038/sj.emboj.7600277; PubMed=15257300 [NCBI, ExPASy, EBI, Israel, Japan]
Pichierri P.,
Franchitto A.,
Rosselli F.;
"BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks.";
EMBO J. 23:3154-3163(2004).
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[8]
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FUNCTION IN DNA REPAIR.
PubMed=12019152 [NCBI, ExPASy, EBI, Israel, Japan]
Langland G.,
Elliott J.,
Li Y.,
Creaney J.,
Dixon K.,
Groden J.;
"The BLM helicase is necessary for normal DNA double-strand break repair.";
Cancer Res. 62:2766-2770(2002).
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[9]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1296, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A.,
Jedrychowski M.,
Schwartz D.,
Elias J.E.,
Villen J.,
Li J.,
Cohn M.A.,
Cantley L.C.,
Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
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[10]
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IDENTIFICATION IN A COMPLEX WITH RMI1, AND PHOSPHORYLATION.
DOI=10.1038/sj.emboj.7600622; PubMed=15775963 [NCBI, ExPASy, EBI, Israel, Japan]
Yin J.,
Sobeck A.,
Xu C.,
Meetei A.R.,
Hoatlin M.,
Li L.,
Wang W.;
"BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity.";
EMBO J. 24:1465-1476(2005).
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[11]
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INTERACTION WITH RMI1.
DOI=10.1074/jbc.C600051200; PubMed=16595695 [NCBI, ExPASy, EBI, Israel, Japan]
Raynard S.,
Bussen W.,
Sung P.;
"A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75.";
J. Biol. Chem. 281:13861-13864(2006).
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[12]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-499 AND THR-508, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1038/nbt1240; PubMed=16964243 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A.,
Villen J.,
Gerber S.A.,
Rush J.,
Gygi S.P.;
"A probability-based approach for high-throughput protein phosphorylation analysis and site localization.";
Nat. Biotechnol. 24:1285-1292(2006).
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[13]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-419 AND SER-422, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0507066103; PubMed=16565220 [NCBI, ExPASy, EBI, Israel, Japan]
Nousiainen M.,
Sillje H.H.W.,
Sauer G.,
Nigg E.A.,
Koerner R.;
"Phosphoproteome analysis of the human mitotic spindle.";
Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006).
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[14]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-480, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan]
Yu L.-R.,
Zhu Z.,
Chan K.C.,
Issaq H.J.,
Dimitrov D.S.,
Veenstra T.D.;
"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.";
J. Proteome Res. 6:4150-4162(2007).
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[15]
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VARIANT BLM PHE-1036.
DOI=10.1093/hmg/6.9.1427; PubMed=9285778 [NCBI, ExPASy, EBI, Israel, Japan]
Foucault F.,
Vaury C.,
Barakat A.,
Thibout D.,
Planchon P.,
Jaulin C.,
Praz F.,
Amor-Gueret M.;
"Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.";
Hum. Mol. Genet. 6:1427-1434(1997).
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[16]
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VARIANT BLM ARG-878.
DOI=10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I; PubMed=10862105 [NCBI, ExPASy, EBI, Israel, Japan]
Barakat A.,
Ababou M.,
Onclercq R.,
Dutertre S.,
Chadli E.,
Hda N.,
Benslimane A.,
Amor-Gueret M.;
"Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.";
Hum. Mutat. 15:584-585(2000).
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