WHSC1

Wolf-Hirschhorn syndrome candidate 1
Identifiers
Symbols	WHSC1 ; FLJ23286; KIAA1090; MMSET; NSD2; REIIBP; TRX5; WHS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 26175
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE WHSC1 209054 s at tn.png
File:PBB GE WHSC1 209052 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Wolf-Hirschhorn syndrome candidate 1, also known as WHSC1, is a human gene.

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.

Further reading

• Gutmajster E, Rokicka A (2003). "[Genetic determination of Wolf-Hirschhorn syndrome ]". Wiad. Lek. 55 (11–12): 706–10. PMID 12715353.
• Bergemann AD, Cole F, Hirschhorn K (2005). "The etiology of Wolf-Hirschhorn syndrome". Trends Genet. 21 (3): 188–95. doi:10.1016/j.tig.2005.01.008. PMID 15734578.CS1 maint: Multiple names: authors list (link)
• Wright TJ, Ricke DO, Denison K; et al. (1997). "A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region". Hum. Mol. Genet. 6 (2): 317–24. PMID 9063753.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chesi M, Nardini E, Brents LA; et al. (1997). "Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3". Nat. Genet. 16 (3): 260–4. doi:10.1038/ng0797-260. PMID 9207791.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richelda R, Ronchetti D, Baldini L; et al. (1997). "A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene". Blood. 90 (10): 4062–70. PMID 9354676.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stec I, Wright TJ, van Ommen GJ; et al. (1999). "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 (7): 1071–82. PMID 9618163.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chesi M, Nardini E, Lim RS; et al. (1998). "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts". Blood. 92 (9): 3025–34. PMID 9787135.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kikuno R, Nagase T, Ishikawa K; et al. (1999). "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 (3): 197–205. PMID 10470851.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Malgeri U, Baldini L, Perfetti V; et al. (2000). "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 (15): 4058–61. PMID 10945609.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Garlisi CG, Uss AS, Xiao H; et al. (2001). "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 (1): 90–98. PMID 11152655.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rauch A, Schellmoser S, Kraus C; et al. (2001). "First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation". Am. J. Med. Genet. 99 (4): 338–42. PMID 11252005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Perfetti V, Coluccia AM, Intini D; et al. (2001). "Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis". Am. J. Pathol. 158 (5): 1599–603. PMID 11337357.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Santra M, Zhan F, Tian E; et al. (2003). "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 (6): 2374–6. doi:10.1182/blood-2002-09-2801. PMID 12433679.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Intini D, Fabris S, Storlazzi T; et al. (2004). "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 (3): 437–9. doi:10.1111/j.1365-2141.2004.05048.x. PMID 15257719.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Keats JJ, Maxwell CA, Taylor BJ; et al. (2005). "Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients". Blood. 105 (10): 4060–9. doi:10.1182/blood-2004-09-3704. PMID 15677557.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hudlebusch HR, Theilgaard-Mönch K, Lodahl M; et al. (2005). "Identification of ID-1 as a potential target gene of MMSET in multiple myeloma". Br. J. Haematol. 130 (5): 700–8. doi:10.1111/j.1365-2141.2005.05664.x. PMID 16115125.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)