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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)
Papers on WHS
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
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.
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.
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