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{{Infobox_gene}}
{{PBB_Controls
'''AT-rich interactive domain-containing protein 1B''' is a [[protein]] that in humans is encoded by the ''ARID1B'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57492| accessdate = }}</ref> ARID1B is a component of the human [[SWI/SNF]] chromatin remodeling complex.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{GNF_Protein_box
| image = PBB_Protein_ARID1B_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2cxy.
| PDB = {{PDB2|2cxy}}
| Name = AT rich interactive domain 1B (SWI1-like)
| HGNCid = 18040
| Symbol = ARID1B
| AltSymbols =; BRIGHT; 6A3-5; BAF250b; DAN15; ELD/OSA1; KIAA1235; p250R
| OMIM = 
| ECnumber = 
| Homologene = 32344
| MGIid = 1926129
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0016514 |text = SWI/SNF complex}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}} {{GNF_GO|id=GO:0048096 |text = chromatin-mediated maintenance of transcription}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 57492
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_059989
    | Hs_RefseqmRNA = NM_017519
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 239985
    | Mm_Ensembl = ENSMUSG00000069729
    | Mm_RefseqmRNA = XM_139711
    | Mm_RefseqProtein = XP_139711
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 5054053
    | Mm_GenLoc_end = 5299566
    | Mm_Uniprot = 
  }}
}}
'''AT rich interactive domain 1B (SWI1-like)''', also known as '''ARID1B''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57492| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Germline mutations in ARID1B are associated with [[Coffin-Siris syndrome]].<ref name="pmid22426308">{{cite journal | vauthors = Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N | title = Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome | journal = Nat. Genet. | volume = 44 | issue = 4 | pages = 376–8 |date=April 2012 | pmid = 22426308 | doi = 10.1038/ng.2219 }}</ref><ref name="pmid22426309">{{cite journal | vauthors = Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M | title = Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome | journal = Nat. Genet. | volume = 44 | issue = 4 | pages = 379–80 |date=April 2012 | pmid = 22426309 | doi = 10.1038/ng.2217 }}</ref> Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.<ref name="pmid23355908">{{cite journal | vauthors = Shain AH, Pollack JR | title = The spectrum of SWI/SNF mutations, ubiquitous in human cancers | journal = PLoS ONE | volume = 8 | issue = 1 | pages = e55119 | year = 2013 | pmid = 23355908 | pmc = 3552954 | doi = 10.1371/journal.pone.0055119 }}</ref><ref name="pmid23202128">{{cite journal | vauthors = Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD | title = Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma | journal = Nat. Genet. | volume = 45 | issue = 1 | pages = 12–7 |date=January 2013 | pmid = 23202128 | pmc = 3557959 | doi = 10.1038/ng.2493 }}</ref><ref name="pmid22233809">{{cite journal | vauthors = Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR | title = Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 109 | issue = 5 | pages = E252–9 |date=January 2012 | pmid = 22233809 | pmc = 3277150 | doi = 10.1073/pnas.1114817109 }}</ref><ref name="pmid22634756">{{cite journal | vauthors = Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H | title = Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators | journal = Nat. Genet. | volume = 44 | issue = 7 | pages = 760–4 |date=July 2012 | pmid = 22634756 | doi = 10.1038/ng.2291 }}</ref>
{{PBB_Summary
| section_title =  
| summary_text =  
}}


==References==
== Interactions ==
{{reflist|2}}
ARID1B has been shown to [[Protein-protein interaction|interact]] with [[SMARCA4]]<ref name="pmid11988099">{{cite journal | vauthors = Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H | title = Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein | journal = Biochem. J. | volume = 364 | issue = Pt 1 | pages = 255–64 |date=May 2002 | pmid = 11988099 | pmc = 1222568 | doi = 10.1042/bj3640255}}</ref><ref name="pmid12200431">{{cite journal | vauthors = Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N | title = Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors | journal = J. Biol. Chem. | volume = 277 | issue = 44 | pages = 41674–85 |date=November 2002 | pmid = 12200431 | doi = 10.1074/jbc.M205961200 }}</ref> and [[SMARCA2]].<ref name=pmid12200431/>
==Further reading==
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Martens JA, Winston F |title=Recent advances in understanding chromatin remodeling by Swi/Snf complexes |journal=Curr. Opin. Genet. Dev. |volume=13 |issue= 2 |pages= 136–42 |year= 2003 |pmid= 12672490 |doi=10.1016/S0959-437X(03)00022-4 }}
| citations =
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
*{{cite journal  | author=Martens JA, Winston F |title=Recent advances in understanding chromatin remodeling by Swi/Snf complexes. |journal=Curr. Opin. Genet. Dev. |volume=13 |issue= 2 |pages= 136-42 |year= 2003 |pmid= 12672490 |doi=  }}
*{{cite journal  | vauthors=Imbert G, Saudou F, Yvert G |title=Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 285–91 |year= 1996 |pmid= 8896557 |doi= 10.1038/ng1196-285 |display-authors=etal}}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
*{{cite journal  | vauthors=Mangel L, Ternes T, Schmitz B, Doerfler W |title=New 5'-(CGG)n-3' repeats in the human genome |journal=J. Biol. Chem. |volume=273 |issue= 46 |pages= 30466–71 |year= 1998 |pmid= 9804814 |doi=10.1074/jbc.273.46.30466 }}
*{{cite journal  | author=Imbert G, Saudou F, Yvert G, ''et al.'' |title=Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 285-91 |year= 1996 |pmid= 8896557 |doi= 10.1038/ng1196-285 }}
*{{cite journal  | vauthors=Phelan ML, Sif S, Narlikar GJ, Kingston RE |title=Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits |journal=Mol. Cell |volume=3 |issue= 2 |pages= 247–53 |year= 1999 |pmid= 10078207 |doi=10.1016/S1097-2765(00)80315-9 }}
*{{cite journal  | author=Mangel L, Ternes T, Schmitz B, Doerfler W |title=New 5'-(CGG)n-3' repeats in the human genome. |journal=J. Biol. Chem. |volume=273 |issue= 46 |pages= 30466-71 |year= 1998 |pmid= 9804814 |doi=  }}
*{{cite journal  | vauthors=Nagase T, Ishikawa K, Kikuno R |title=Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=6 |issue= 5 |pages= 337–45 |year= 2000 |pmid= 10574462 |doi=10.1093/dnares/6.5.337 |display-authors=etal}}
*{{cite journal  | author=Phelan ML, Sif S, Narlikar GJ, Kingston RE |title=Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. |journal=Mol. Cell |volume=3 |issue= 2 |pages= 247-53 |year= 1999 |pmid= 10078207 |doi=  }}
*{{cite journal  | vauthors=Xue Y, Canman JC, Lee CS |title=The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 24 |pages= 13015–20 |year= 2001 |pmid= 11078522 |doi= 10.1073/pnas.240208597 | pmc=27170 |display-authors=etal}}
*{{cite journal  | author=Nagase T, Ishikawa K, Kikuno R, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 5 |pages= 337-45 |year= 2000 |pmid= 10574462 |doi=  }}
*{{cite journal  | vauthors=Kato H, Tjernberg A, Zhang W |title=SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones |journal=J. Biol. Chem. |volume=277 |issue= 7 |pages= 5498–505 |year= 2002 |pmid= 11734557 |doi= 10.1074/jbc.M108702200 |display-authors=etal}}
*{{cite journal  | author=Xue Y, Canman JC, Lee CS, ''et al.'' |title=The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 24 |pages= 13015-20 |year= 2001 |pmid= 11078522 |doi= 10.1073/pnas.240208597 }}
*{{cite journal  | vauthors=Hurlstone AF, Olave IA, Barker N |title=Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein |journal=Biochem. J. |volume=364 |issue= Pt 1 |pages= 255–64 |year= 2002 |pmid= 11988099 |doi=  10.1042/bj3640255| pmc=1222568  |display-authors=etal}}
*{{cite journal  | author=Kato H, Tjernberg A, Zhang W, ''et al.'' |title=SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones. |journal=J. Biol. Chem. |volume=277 |issue= 7 |pages= 5498-505 |year= 2002 |pmid= 11734557 |doi= 10.1074/jbc.M108702200 }}
*{{cite journal  | vauthors=Inoue H, Furukawa T, Giannakopoulos S |title=Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 41674–85 |year= 2003 |pmid= 12200431 |doi= 10.1074/jbc.M205961200 |display-authors=etal}}
*{{cite journal  | author=Hurlstone AF, Olave IA, Barker N, ''et al.'' |title=Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. |journal=Biochem. J. |volume=364 |issue= Pt 1 |pages= 255-64 |year= 2002 |pmid= 11988099 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 |display-authors=etal}}
*{{cite journal  | author=Inoue H, Furukawa T, Giannakopoulos S, ''et al.'' |title=Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors. |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 41674-85 |year= 2003 |pmid= 12200431 |doi= 10.1074/jbc.M205961200 }}
*{{cite journal  | vauthors=Nie Z, Yan Z, Chen EH |title=Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner |journal=Mol. Cell. Biol. |volume=23 |issue= 8 |pages= 2942–52 |year= 2003 |pmid= 12665591 |doi=10.1128/MCB.23.8.2942-2952.2003  | pmc=152562  |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal  | vauthors=Mungall AJ, Palmer SA, Sims SK |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |display-authors=etal}}
*{{cite journal  | author=Nie Z, Yan Z, Chen EH, ''et al.'' |title=Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. |journal=Mol. Cell. Biol. |volume=23 |issue= 8 |pages= 2942-52 |year= 2003 |pmid= 12665591 |doi= }}
*{{cite journal  | vauthors=Garin G, Badid C, McGregor B |title=Ischemia Induces Early Expression of a New Transcription Factor (6A3-5) in Kidney Vascular Smooth Muscle Cells : Studies in Rat and Human Renal Pathology |journal=Am. J. Pathol. |volume=163 |issue= 6 |pages= 2485–94 |year= 2004 |pmid= 14633620 |doi=  10.1016/S0002-9440(10)63603-6| pmc=1892391  |display-authors=etal}}
*{{cite journal  | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Garin G, Badid C, McGregor B, ''et al.'' |title=Ischemia induces early expression of a new transcription factor (6A3-5) in kidney vascular smooth muscle cells: studies in rat and human renal pathology. |journal=Am. J. Pathol. |volume=163 |issue= 6 |pages= 2485-94 |year= 2004 |pmid= 14633620 |doi=  }}
*{{cite journal  | vauthors=Bouwmeester T, Bauch A, Ruffner H |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97–105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Wilsker D, Patsialou A, Zumbrun SD |title=The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes |journal=Nucleic Acids Res. |volume=32 |issue= 4 |pages= 1345–53 |year= 2004 |pmid= 14982958 |doi= 10.1093/nar/gkh277 | pmc=390273 |display-authors=etal}}
*{{cite journal  | author=Bouwmeester T, Bauch A, Ruffner H, ''et al.'' |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97-105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 }}
*{{cite journal  | vauthors=Wang X, Nagl NG, Wilsker D |title=Two related ARID family proteins are alternative subunits of human SWI/SNF complexes |journal=Biochem. J. |volume=383 |issue= Pt 2 |pages= 319–25 |year= 2005 |pmid= 15170388 |doi= 10.1042/BJ20040524 | pmc=1134073 |display-authors=etal}}
*{{cite journal  | author=Wilsker D, Patsialou A, Zumbrun SD, ''et al.'' |title=The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes. |journal=Nucleic Acids Res. |volume=32 |issue= 4 |pages= 1345-53 |year= 2004 |pmid= 14982958 |doi= 10.1093/nar/gkh277 }}
*{{cite journal  | vauthors=Colland F, Jacq X, Trouplin V |title=Functional Proteomics Mapping of a Human Signaling Pathway |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 |display-authors=etal}}
*{{cite journal  | author=Wang X, Nagl NG, Wilsker D, ''et al.'' |title=Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. |journal=Biochem. J. |volume=383 |issue= Pt 2 |pages= 319-25 |year= 2005 |pmid= 15170388 |doi= 10.1042/BJ20040524 }}
*{{cite journal  | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|ARID1B+protein,+human}}
* {{MeshName|ARID1B+protein,+human}}
* {{UCSC gene info|ARID1B}}


{{PDB Gallery|geneid=57492}}
{{Transcription factors|g0}}


{{protein-stub}}
{{NLM content}}
{{NLM content}}
{{Transcription factors}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 18:14, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene.[1] ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

Clinical significance

Germline mutations in ARID1B are associated with Coffin-Siris syndrome.[2][3] Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.[4][5][6][7]

Interactions

ARID1B has been shown to interact with SMARCA4[8][9] and SMARCA2.[9]

References

  1. ↑ "Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)".
  2. ↑ Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N (April 2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 376–8. doi:10.1038/ng.2219. PMID 22426308.
  3. ↑ Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M (April 2012). "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome". Nat. Genet. 44 (4): 379–80. doi:10.1038/ng.2217. PMID 22426309.
  4. ↑ Shain AH, Pollack JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLoS ONE. 8 (1): e55119. doi:10.1371/journal.pone.0055119. PMC 3552954. PMID 23355908.
  5. ↑ Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD (January 2013). "Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma". Nat. Genet. 45 (1): 12–7. doi:10.1038/ng.2493. PMC 3557959. PMID 23202128.
  6. ↑ Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR (January 2012). "Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer". Proc. Natl. Acad. Sci. U.S.A. 109 (5): E252–9. doi:10.1073/pnas.1114817109. PMC 3277150. PMID 22233809.
  7. ↑ Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H (July 2012). "Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators". Nat. Genet. 44 (7): 760–4. doi:10.1038/ng.2291. PMID 22634756.
  8. ↑ Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H (May 2002). "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64. doi:10.1042/bj3640255. PMC 1222568. PMID 11988099.
  9. ↑ 9.0 9.1 Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (November 2002). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". J. Biol. Chem. 277 (44): 41674–85. doi:10.1074/jbc.M205961200. PMID 12200431.

Further reading

External links

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