| 释义 |
- References
- Further reading
{{Underlinked|date=June 2016}}{{Infobox_gene}}Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene.[1][2][3]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.[4] References1. ^{{cite journal | vauthors = Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT | title = 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 | journal = Hum Mol Genet | volume = 7 | issue = 7 | pages = 1071–82 |date=Jan 1999 | pmid = 9618163 | pmc = | doi =10.1093/hmg/7.7.1071 }}
2. ^{{cite journal | vauthors = Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL | title = The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts | journal = Blood | volume = 92 | issue = 9 | pages = 3025–34 |date=Nov 1998 | pmid = 9787135 | pmc = | doi = }}
3. ^{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}
4. ^{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Gutmajster E, Rokicka A |title=[Genetic determination of Wolf-Hirschhorn syndrome ] |journal=Wiad. Lek. |volume=55 |issue= 11-12 |pages= 706–10 |year= 2003 |pmid= 12715353 |doi= }}
- {{cite journal | vauthors=Bergemann AD, Cole F, Hirschhorn K |title=The etiology of Wolf-Hirschhorn syndrome. |journal=Trends Genet. |volume=21 |issue= 3 |pages= 188–95 |year= 2005 |pmid= 15734578 |doi= 10.1016/j.tig.2005.01.008 }}
- {{cite journal |vauthors=Wright TJ, Ricke DO, Denison K, etal |title=A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 317–24 |year= 1997 |pmid= 9063753 |doi=10.1093/hmg/6.2.317 }}
- {{cite journal |vauthors=Chesi M, Nardini E, Brents LA, etal |title=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. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 260–4 |year= 1997 |pmid= 9207791 |doi= 10.1038/ng0797-260 |pmc=3901950 }}
- {{cite journal |vauthors=Richelda R, Ronchetti D, Baldini L, etal |title=A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. |journal=Blood |volume=90 |issue= 10 |pages= 4062–70 |year= 1997 |pmid= 9354676 |doi= }}
- {{cite journal |vauthors=Kikuno R, Nagase T, Ishikawa K, etal |title=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. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197–205 |year= 1999 |pmid= 10470851 |doi=10.1093/dnares/6.3.197 }}
- {{cite journal |vauthors=Malgeri U, Baldini L, Perfetti V, etal |title=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. |journal=Cancer Res. |volume=60 |issue= 15 |pages= 4058–61 |year= 2000 |pmid= 10945609 |doi= }}
- {{cite journal |vauthors=Garlisi CG, Uss AS, Xiao H, etal |title=A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 1 |pages= 90–98 |year= 2001 |pmid= 11152655 |doi= 10.1165/ajrcmb.24.1.4224}}
- {{cite journal |vauthors=Rauch A, Schellmoser S, Kraus C, etal |title=First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. |journal=Am. J. Med. Genet. |volume=99 |issue= 4 |pages= 338–42 |year= 2001 |pmid= 11252005 |doi=10.1002/ajmg.1203 }}
- {{cite journal |vauthors=Perfetti V, Coluccia AM, Intini D, etal |title=Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. |journal=Am. J. Pathol. |volume=158 |issue= 5 |pages= 1599–603 |year= 2001 |pmid= 11337357 |doi= 10.1016/S0002-9440(10)64115-6| pmc=1891955 }}
- {{cite journal |vauthors=Santra M, Zhan F, Tian E, etal |title=A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. |journal=Blood |volume=101 |issue= 6 |pages= 2374–6 |year= 2003 |pmid= 12433679 |doi= 10.1182/blood-2002-09-2801 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Intini D, Fabris S, Storlazzi T, etal |title=Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. |journal=Br. J. Haematol. |volume=126 |issue= 3 |pages= 437–9 |year= 2004 |pmid= 15257719 |doi= 10.1111/j.1365-2141.2004.05048.x }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Keats JJ, Maxwell CA, Taylor BJ, etal |title=Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. |journal=Blood |volume=105 |issue= 10 |pages= 4060–9 |year= 2005 |pmid= 15677557 |doi= 10.1182/blood-2004-09-3704 | pmc=1895072 }}
- {{cite journal |vauthors=Hudlebusch HR, Theilgaard-Mönch K, Lodahl M, etal |title=Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. |journal=Br. J. Haematol. |volume=130 |issue= 5 |pages= 700–8 |year= 2005 |pmid= 16115125 |doi= 10.1111/j.1365-2141.2005.05664.x }}
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