[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), AND CHROMOSOMAL TRANSLOCATION WITH IGH.
TISSUE=Myeloma;
PubMed=9787135 [NCBI, ExPASy, EBI, Israel, Japan]
Chesi M.,
Nardini E.,
Lim R.S.C.,
Smith K.D.,
Kuehl W.M.,
Bergsagel P.L.;
"The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts.";
Blood 92:3025-3034(1998).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3 AND 5), TISSUE SPECIFICITY, AND CHROMOSOMAL TRANSLOCATION WITH IGH.
DOI=10.1093/hmg/7.7.1071; PubMed=9618163 [NCBI, ExPASy, EBI, Israel, Japan]
Stec I.,
Wright T.J.,
van Ommen G.-J.B.,
de Boer P.A.,
van Haeringen A.,
Moorman A.F.M.,
Altherr M.R.,
den Dunnen J.T.;
"WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.";
Hum. Mol. Genet. 7:1071-1082(1998).
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[3]
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ERRATUM.
Stec I.,
Wright T.J.,
van Ommen G.-J.B.,
de Boer P.A.,
van Haeringen A.,
Moorman A.F.M.,
Altherr M.R.,
den Dunnen J.T.;
Hum. Mol. Genet. 7:1527-1527(1998).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, AND DNA-BINDING.
PubMed=11152655 [NCBI, ExPASy, EBI, Israel, Japan]
Garlisi C.G.,
Uss A.S.,
Xiao H.,
Tian F.,
Sheridan K.E.,
Wang L.,
Motasim Billah M.,
Egan R.W.,
Stranick K.S.,
Umland S.P.;
"A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription.";
Am. J. Respir. Cell Mol. Biol. 24:90-98(2001).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), AND SUBCELLULAR LOCATION.
DOI=10.1182/blood-2004-09-3704; PubMed=15677557 [NCBI, ExPASy, EBI, Israel, Japan]
Keats J.J.,
Maxwell C.A.,
Taylor B.J.,
Hendzel M.J.,
Chesi M.,
Bergsagel P.L.,
Larratt L.M.,
Mant M.J.,
Reiman T.,
Belch A.R.,
Pilarski L.M.;
"Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients.";
Blood 105:4060-4069(2005).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Angrand P.-O.,
Valvatne H.,
Jeanmougin F.,
Adamson A.,
van der Hoeven F.,
Olsen L.,
Tekotte H.,
Huang N.,
Poch O.,
Lamerdin J.,
Chambon P.,
Losson R.,
Stewart A.,
Aasland R.;
"Mammalian trithorax- and ASH1-like proteins: putative chromatin regulators which contain PHD fingers and SET domains.";
Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
DOI=10.1093/dnares/6.3.197; PubMed=10470851 [NCBI, ExPASy, EBI, Israel, Japan]
Kikuno R.,
Nagase T.,
Ishikawa K.,
Hirosawa M.,
Miyajima N.,
Tanaka A.,
Kotani H.,
Nomura N.,
Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.";
DNA Res. 6:197-205(1999).
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 6), AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 496-1365 (ISOFORM 3).
TISSUE=Ovary, and Spleen;
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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[9]
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CHROMOSOMAL TRANSLOCATION WITH IGH.
PubMed=10945609 [NCBI, ExPASy, EBI, Israel, Japan]
Malgeri U.,
Baldini L.,
Perfetti V.,
Fabris S.,
Vignarelli M.C.,
Colombo G.,
Lotti V.,
Compasso S.,
Bogni S.,
Lombardi L.,
Maiolo A.T.,
Neri A.;
"Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts.";
Cancer Res. 60:4058-4061(2000).
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[10]
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CHROMOSOMAL TRANSLOCATION WITH IGH.
PubMed=11337357 [NCBI, ExPASy, EBI, Israel, Japan]
Perfetti V.,
Coluccia A.M.,
Intini D.,
Malgeri U.,
Vignarelli M.C.,
Casarini S.,
Merlini G.,
Neri A.;
"Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis.";
Am. J. Pathol. 158:1599-1603(2001).
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[11]
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CHROMOSOMAL TRANSLOCATION WITH IGH.
DOI=10.1182/blood-2002-09-2801; PubMed=12433679 [NCBI, ExPASy, EBI, Israel, Japan]
Santra M.,
Zhan F.,
Tian E.,
Barlogie B.,
Shaughnessy J. Jr.;
"A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript.";
Blood 101:2374-2376(2003).
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[12]
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CHROMOSOMAL TRANSLOCATION WITH IGH.
DOI=10.1111/j.1365-2141.2004.05048.x; PubMed=15257719 [NCBI, ExPASy, EBI, Israel, Japan]
Intini D.,
Fabris S.,
Storlazzi T.,
Otsuki T.,
Ciceri G.,
Verdelli D.,
Lombardi L.,
Rocchi M.,
Neri A.;
"Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation.";
Br. J. Haematol. 126:437-439(2004).
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[13]
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FUNCTION.
DOI=10.1111/j.1365-2141.2005.05664.x; PubMed=16115125 [NCBI, ExPASy, EBI, Israel, Japan]
Hudlebusch H.R.,
Theilgaard-Moench K.,
Lodahl M.,
Johnsen H.E.,
Rasmussen T.;
"Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.";
Br. J. Haematol. 130:700-708(2005).
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[14]
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SUBCELLULAR LOCATION.
DOI=10.1111/j.1365-2141.2005.05741.x; PubMed=16197452 [NCBI, ExPASy, EBI, Israel, Japan]
Todoerti K.,
Ronchetti D.,
Agnelli L.,
Castellani S.,
Marelli S.,
Deliliers G.L.,
Zanella A.,
Lombardi L.,
Neri A.;
"Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma.";
Br. J. Haematol. 131:214-218(2005).
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[15]
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INVOLVEMENT IN WHS.
DOI=10.1016/j.tig.2005.01.008; PubMed=15734578 [NCBI, ExPASy, EBI, Israel, Japan]
Bergemann A.D.,
Cole F.,
Hirschhorn K.;
"The etiology of Wolf-Hirschhorn syndrome.";
Trends Genet. 21:188-195(2005).
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[16]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-544, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[17]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, AND MASS SPECTROMETRY.
DOI=10.1126/science.1140321; PubMed=17525332 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuoka S.,
Ballif B.A.,
Smogorzewska A.,
McDonald E.R. III,
Hurov K.E.,
Luo J.,
Bakalarski C.E.,
Zhao Z.,
Solimini N.,
Lerenthal Y.,
Shiloh Y.,
Gygi S.P.,
Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.";
Science 316:1160-1166(2007).
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