Gene Review:
WHSC1 - Wolf-Hirschhorn syndrome candidate 1
Homo sapiens
Synonyms:
Histone-lysine N-methyltransferase NSD2, KIAA1090, MMSET, Multiple myeloma SET domain-containing protein, NSD2, ...
- Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. 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. Blood (2005)
- Identification of a novel proliferation-related protein, WHSC1 4a, in human gliomas. Li, J., Yin, C., Okamoto, H., Mushlin, H., Balgley, B.M., Lee, C.S., Yuan, K., Ikejiri, B., Glasker, S., Vortmeyer, A.O., Oldfield, E.H., Weil, R.J., Zhuang, Z. Neuro-oncology (2008)
- The molecular classification of multiple myeloma. Zhan, F., Huang, Y., Colla, S., Stewart, J.P., Hanamura, I., Gupta, S., Epstein, J., Yaccoby, S., Sawyer, J., Burington, B., Anaissie, E., Hollmig, K., Pineda-Roman, M., Tricot, G., van Rhee, F., Walker, R., Zangari, M., Crowley, J., Barlogie, B., Shaughnessy, J.D. Blood (2006)
- A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. Santra, M., Zhan, F., Tian, E., Barlogie, B., Shaughnessy, J. Blood (2003)
- Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma. Shaughnessy, J., Gabrea, A., Qi, Y., Brents, L., Zhan, F., Tian, E., Sawyer, J., Barlogie, B., Bergsagel, P.L., Kuehl, M. Blood (2001)
- 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. Stec, I., Wright, T.J., van Ommen, G.J., de Boer, P.A., van Haeringen, A., Moorman, A.F., Altherr, M.R., den Dunnen, J.T. Hum. Mol. Genet. (1998)
- A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. Garlisi, C.G., Uss, A.S., Xiao, H., Tian, F., Sheridan, K.E., Wang, L., Motasim Billah M, n.u.l.l., Egan, R.W., Stranick, K.S., Umland, S.P. Am. J. Respir. Cell Mol. Biol. (2001)
- Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. Sharathkumar, A., Kirby, M., Freedman, M., Abdelhaleem, M., Chitayat, D., Teshima, I.E., Dror, Y. Am. J. Med. Genet. A (2003)
- WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. Stec, I., van Ommen, G.J., den Dunnen, J.T. Genomics (2001)
- 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. 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. Cancer Res. (2000)
- Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. Hudlebusch, H.R., Theilgaard-Mönch, K., Lodahl, M., Johnsen, H.E., Rasmussen, T. Br. J. Haematol. (2005)
- Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. Todoerti, K., Ronchetti, D., Agnelli, L., Castellani, S., Marelli, S., Deliliers, G.L., Zanella, A., Lombardi, L., Neri, A. Br. J. Haematol. (2005)
- The enigma of ectopic expression of FGFR3 in multiple myeloma: a critical initiating event or just a target for mutational activation during tumor progression. Chesi, M., Bergsagel, P.L., Kuehl, W.M. Curr. Opin. Hematol. (2002)
- The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor. Marango, J., Shimoyama, M., Nishio, H., Meyer, J.A., Min, D.J., Sirulnik, A., Martinez-Martinez, Y., Chesi, M., Bergsagel, P.L., Zhou, M.M., Waxman, S., Leibovitch, B.A., Walsh, M.J., Licht, J.D. Blood (2008)
- Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion. Titomanlio, L., Romano, A., Conti, A., Genesio, R., Salerno, M., De Brasi, D., Nitsch, L., Del Giudice, E. Am. J. Med. Genet. A (2004)
- The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Chesi, M., Nardini, E., Lim, R.S., Smith, K.D., Kuehl, W.M., Bergsagel, P.L. Blood (1998)
- A global expression-based analysis of the consequences of the t(4;14) translocation in myeloma. Dring, A.M., Davies, F.E., Fenton, J.A., Roddam, P.L., Scott, K., Gonzalez, D., Rollinson, S., Rawstron, A.C., Rees-Unwin, K.S., Li, C., Munshi, N.C., Anderson, K.C., Morgan, G.J. Clin. Cancer Res. (2004)
- Correlation of TACC3, FGFR3, MMSET and p21 expression with the t(4;14)(p16.3;q32) in multiple myeloma. Stewart, J.P., Thompson, A., Santra, M., Barlogie, B., Lappin, T.R., Shaughnessy, J. Br. J. Haematol. (2004)
- First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Rauch, A., Schellmoser, S., Kraus, C., Dörr, H.G., Trautmann, U., Altherr, M.R., Pfeiffer, R.A., Reis, A. Am. J. Med. Genet. (2001)