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Wolf-Hirschhorn syndrome candidate 1

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: FGFR3, Histone, SET, CAN, HAD
Papers on WHS
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
Battaglia et al., Salt Lake City, United States. In J Med Genet, Feb 2016
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3
MMSET is dynamically regulated during cell-cycle progression and promotes normal DNA replication.
Lou et al., Rochester, United States. In Cell Cycle, Feb 2016
Multiple myeloma SET domain-containing protein (MMSET, a.k.a.
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Zhou et al., Nijmegen, Netherlands. In Hum Genet, Jan 2016
Our analyses of these overlapping CNVs identified two genes known to be causative for human OFCs, SATB2 and MEIS2, and 12 genes (DGCR6, FGF2, FRZB, LETM1, MAPK3, SPRY1, THBS1, TSHZ1, TTC28, TULP4, WHSC1, WHSC2) that are associated with OFC or orofacial development.
MTDH is an oncogene in multiple myeloma, which is suppressed by Bortezomib treatment.
Yang et al., Nanjing, China. In Oncotarget, Jan 2016
Moreover, MTDH expression significantly increased in MMSET translocation (MS) subgroup, one of the high-risk subgroups in MM, and was significantly correlated with MM patients' poor outcomes in Total Therapy 2 (TT2) cohort.
Clinical value of molecular subtyping multiple myeloma using gene expression profiling.
Morgan et al., Little Rock, United States. In Leukemia, Dec 2015
Bortezomib significantly improved the progression-free survival (PFS) and overall survival (OS) of the MMSET (MS) subgroup.
Wolf-Hirschhorn syndrome: A review and update.
South et al., In Am J Med Genet C Semin Med Genet, Sep 2015
We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic effects when each gene on distal 4p is hemizygous.
Epigenetic modifiers in normal and malignant hematopoiesis.
Bernt et al., Aurora, United States. In Epigenomics, 2014
In this review, we aim to compare the role of several key DNA or histone modifying enzymes and complexes in normal development and hematopoietic malignancies, including DNMT3A, TET2, IDH1, IDH2, MLL1, MLL4, DOT1L, PRC1/2 and WSHC1/NSD2/MMSET.
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.
Paradowska-Stolarz, Wrocław, Poland. In Adv Clin Exp Med, 2014
Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion.
MMSET: role and therapeutic opportunities in multiple myeloma.
Chng et al., Singapore, Singapore. In Biomed Res Int, 2013
The t(4; 14) translocation leads to the simultaneous overexpression of two genes, FGFR3 (fibroblast growth factor receptor 3) and MMSET (multiple myeloma SET domain), both of which have potential oncogenic activity.
Targeted therapy of multiple myeloma.
Talamo et al., State College, United States. In Adv Exp Med Biol, 2012
Commonly detected genetic aberrations are translocations involving immunoglobulin heavy chain (IgH) switch regions (chromosome 14q32) and oncogenes such as c-maf [t(14:16)], cyclin D1 [t(11:14)], and FGFR3/MMSET [t(4:14)].
Histone methyltransferase NSD2/MMSET mediates constitutive NF-κB signaling for cancer cell proliferation, survival, and tumor growth via a feed-forward loop.
Chen et al., Sacramento, United States. In Mol Cell Biol, 2012
NSD2 is a key chromatin regulator of NF-kappaB and mediator of the cytokine autocrine loop for constitutive NF-kappaB activation and emphasize the important roles played by NSD2 in cancer cell proliferation and survival and tumor growth.
Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress.
Tomasson et al., Saint Louis, United States. In J Clin Invest, 2012
ACA11, an orphan box H/ACA class small nucleolar RNA (snoRNA) encoded within an intron of WHSC1, was highly expressed in t(4;14)-positive multiple myeloma and other cancers
NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.
Gozani et al., Stanford, United States. In Mol Cell, 2011
NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.
Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
Hamamoto et al., Tokyo, Japan. In Neoplasia, 2011
Data show significant up-regulation of WHSC1 expression in bladder and lung cancer cells at both transcriptional and the protein levels.
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.
Elledge et al., Boston, United States. In Proc Natl Acad Sci U S A, 2011
WHSC1 regulates the methylation status of the histone H4 K20 residue and is required for the recruitment of 53BP1 to sites of DNA damage.
MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites.
Lou et al., Rochester, United States. In Nature, 2011
a pathway involving gammaH2AX-MDC1-MMSET regulates the induction of H4K20 methylation on histones around DSBs, which, in turn, facilitates 53BP1 recruitment
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
Kaneda et al., Suita, Japan. In Nature, 2009
H3K36me3-specific histone methyltransferase WHSC1 (also NSD2 or MMSET) functions in transcriptional regulation together with developmental transcription factors whose defects overlap with the human disease Wolf-Hirschhorn syndrome
NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis.
Kamps et al., San Diego, United States. In Nat Cell Biol, 2007
Nuclear receptor-binding SET domain protein 1 (NSD1) prototype is a family of mammalian histone methyltransferases (NSD1, NSD2/MMSET/WHSC1, NSD3/WHSC1L1) that are essential in development and are mutated in human acute myeloid leukemia (AML), overgrowth syndromes, multiple myeloma and lung cancers.
Molecular pathogenesis and a consequent classification of multiple myeloma.
Kuehl et al., Scottsdale, United States. In J Clin Oncol, 2005
Nearly half of tumors are nonhyperdiploid, and mostly have one of five recurrent IgH translocations: 16% 11q13 (CCN D1), 3% 6p21 (CCN D3), 5% 16q23 (MAF), 2% 20q12 (MAFB), and 15% 4p16 (FGFR3 and MMSET).
New insights into the pathophysiology of multiple myeloma.
Drach et al., Vienna, Austria. In Lancet Oncol, 2003
Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16.3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator.
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