Smarcb1

Summary

Gene Symbol: Smarcb1
Description: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Alias: AU020204, Baf47, Ini1, SNF5/INI1, Snf5, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1, BRG1-associated factor 47, SNF5 homolog, integrase interactor 1 protein, mSNF5
Species: mouse
Products:     Smarcb1

Top Publications

  1. Bruder C, Dumanski J, Kedra D. The mouse ortholog of the human SMARCB1 gene encodes two splice forms. Biochem Biophys Res Commun. 1999;257:886-90 pubmed
    The human SMARCB1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named the INI1/hSNF5 gene) is a tumor suppressor gene located on chromosome 22q11...
  2. Tsikitis M, Zhang Z, Edelman W, Zagzag D, Kalpana G. Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. Proc Natl Acad Sci U S A. 2005;102:12129-34 pubmed
    ..Rhabdoid tumors arise because of the loss of the tumor suppressor gene INI1. We have previously demonstrated that INI1 represses Cyclin D1 transcription in rhabdoid cells by directly ..
  3. Klochendler Yeivin A, Picarsky E, Yaniv M. Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex. Mol Cell Biol. 2006;26:2661-74 pubmed
    The gene encoding the SNF5/Ini1 core subunit of the SWI/SNF chromatin remodeling complex is a tumor suppressor in humans and mice, with an essential role in early embryonic development...
  4. Roberts C, Galusha S, McMenamin M, Fletcher C, Orkin S. Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci U S A. 2000;97:13796-800 pubmed
    ..We sought to examine the role of Snf5 in development and cancer in a murine model...
  5. Roberts C, Leroux M, Fleming M, Orkin S. Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002;2:415-25 pubmed
    ..Utilizing a reversibly inactivating conditional allele, we demonstrate that loss of Snf5/Ini1/Baf47/SmarcB1, a core subunit of SWI/SNF, results in highly penetrant cancer predisposition with 100% of mice developing mature ..
  6. Chai J, Lu X, Godfrey V, Fletcher C, Roberts C, van Dyke T, et al. Tumor-specific cooperation of retinoblastoma protein family and Snf5 inactivation. Cancer Res. 2007;67:3002-9 pubmed
    ..Seventy-five percent of sporadic MRTs harbor inactivating SNF5 mutations, and mice heterozygous for an Snf5-null allele develop MRTs with partial penetrance...
  7. Klochendler Yeivin A, Fiette L, Barra J, Muchardt C, Babinet C, Yaniv M. The murine SNF5/INI1 chromatin remodeling factor is essential for embryonic development and tumor suppression. EMBO Rep. 2000;1:500-6 pubmed
    ..investigate the function of two closely related mammalian SWI/SNF complexes in vivo, we inactivated the murine SNF5/INI1 gene, a common subunit of these two complexes...
  8. Guidi C, Sands A, Zambrowicz B, Turner T, Demers D, Webster W, et al. Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice. Mol Cell Biol. 2001;21:3598-603 pubmed
    b>SNF5/INI1 is a component of the ATP-dependent chromatin remodeling enzyme family SWI/SNF. Germ line mutations of INI1 have been identified in children with brain and renal rhabdoid tumors, indicating that INI1 is a tumor suppressor...
  9. Isakoff M, Sansam C, Tamayo P, Subramanian A, Evans J, Fillmore C, et al. Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A. 2005;102:17745-50 pubmed
    Snf5 (Ini1/Baf47/Smarcb1), a core member of the Swi/Snf chromatin remodeling complex, is a potent tumor suppressor whose mechanism of action is largely unknown...

More Information

Publications44

  1. Guidi C, Veal T, Jones S, Imbalzano A. Transcriptional compensation for loss of an allele of the Ini1 tumor suppressor. J Biol Chem. 2004;279:4180-5 pubmed
    The gene encoding INI1, a component of the mammalian SWI/SNF ATP-dependent chromatin remodeling enzymes, has been classified as a tumor suppressor in humans...
  2. McKenna E, Sansam C, Cho Y, Greulich H, Evans J, Thom C, et al. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol. 2008;28:6223-33 pubmed publisher
    ..SNF5 (INI1/SMARCB1/BAF47) is a tumor suppressor that regulates the epigenome as a core member of the SWI/SNF chromatin remodeling ..
  3. Gresh L, Bourachot B, Reimann A, Guigas B, Fiette L, Garbay S, et al. The SWI/SNF chromatin-remodeling complex subunit SNF5 is essential for hepatocyte differentiation. EMBO J. 2005;24:3313-24 pubmed
    ..chromatin-remodeling complex in cell differentiation, we inactivated the gene encoding the core complex subunit SNF5/INI1 in the developing liver...
  4. Costa Y, Speed R, Gautier P, Semple C, Maratou K, Turner J, et al. Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway?. Hum Mol Genet. 2006;15:2324-34 pubmed
    ..Characterization of MAEL revealed that it interacts directly with the chromatin remodeler SNF5/INI1 and chromatin-associated protein SIN3B, which we also find localized to the XY body...
  5. Baker K, Wei G, Schaffner A, Ostrowski M. Ets-2 and components of mammalian SWI/SNF form a repressor complex that negatively regulates the BRCA1 promoter. J Biol Chem. 2003;278:17876-84 pubmed
    ..Brg-1, the ATP-hydrolyzing component of the SWI/SNF complex, along with the BAF57/p50 and Ini1 subunits could be co-immunoprecipitated from cells with ets-2...
  6. Guidi C, Mudhasani R, Hoover K, Koff A, Leav I, Imbalzano A, et al. Functional interaction of the retinoblastoma and Ini1/Snf5 tumor suppressors in cell growth and pituitary tumorigenesis. Cancer Res. 2006;66:8076-82 pubmed
    The Ini1 subunit of the SWI/SNF chromatin remodeling complex suppresses formation of malignant rhabdoid tumors in humans and mice...
  7. Ohkawa Y, Marfella C, Imbalzano A. Skeletal muscle specification by myogenin and Mef2D via the SWI/SNF ATPase Brg1. EMBO J. 2006;25:490-501 pubmed
  8. DelBove J, Kuwahara Y, Mora Blanco E, Godfrey V, Funkhouser W, Fletcher C, et al. Inactivation of SNF5 cooperates with p53 loss to accelerate tumor formation in Snf5(+/-);p53(+/-) mice. Mol Carcinog. 2009;48:1139-48 pubmed publisher
    ..The large majority of these malignancies are caused by loss of function of the SNF5/INI1 component of the SWI/SNF chromatin remodeling complex...
  9. Kuwahara Y, Mora Blanco E, Banine F, Rogers A, Fletcher C, Sherman L, et al. Establishment and characterization of MRT cell lines from genetically engineered mouse models and the influence of genetic background on their development. Int J Cancer. 2013;132:2767-77 pubmed publisher
    ..MRTs) are rare, aggressive cancers occuring in young children primarily through inactivation of the SNF5(INI1, SMARCB1) tumor suppressor gene...
  10. Han Z, Richer W, Fréneaux P, Chauvin C, Lucchesi C, Guillemot D, et al. The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation. Nat Commun. 2016;7:10421 pubmed publisher
    ..they are termed atypical teratoid/rhabdoid tumours (AT/RTs) and characterized by bi-allelic inactivation of the SMARCB1 tumour suppressor gene...
  11. Lessard J, Wu J, Ranish J, Wan M, Winslow M, Staahl B, et al. An essential switch in subunit composition of a chromatin remodeling complex during neural development. Neuron. 2007;55:201-15 pubmed
    ..More broadly, these studies suggest that SWI/SNF-like complexes in vertebrates achieve biological specificity by combinatorial assembly of their subunits. ..
  12. Wang W, Cote J, Xue Y, Zhou S, Khavari P, Biggar S, et al. Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. EMBO J. 1996;15:5370-82 pubmed
    ..A group of BAF47-associated proteins were affinity purified with antibodies against INI1/BAF47 and were found to be identical to ..
  13. Vitte J, Gao F, Coppola G, Judkins A, Giovannini M. Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development. Nat Commun. 2017;8:300 pubmed publisher
    Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes: rhabdoid tumor predisposition syndrome, with malignant pediatric tumors mostly developing in brain and kidney, and familial schwannomatosis, with ..
  14. Sohn D, Lee K, Lee C, Oh J, Chung H, Jeon S, et al. SRG3 interacts directly with the major components of the SWI/SNF chromatin remodeling complex and protects them from proteasomal degradation. J Biol Chem. 2007;282:10614-24 pubmed
    ..Here we report that SRG3 interacts directly with other components of the mammalian SWI/SNF complex such as SNF5, BRG1, and BAF60a...
  15. Reyes J, Barra J, Muchardt C, Camus A, Babinet C, Yaniv M. Altered control of cellular proliferation in the absence of mammalian brahma (SNF2alpha). EMBO J. 1998;17:6979-91 pubmed
    ..These studies suggest that BRM participates in the regulation of cell proliferation in adult mice. ..
  16. Ng J, Martinez D, Marsh E, Zhang Z, Rappaport E, Santi M, et al. Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53. Cancer Res. 2015;75:4629-39 pubmed publisher
    ..In the majority of AT/RT, LOH occurs at the genetic locus SNF5 (Ini1/BAF47/Smarcb1), which functions as a subunit of the SWI/SNF chromatin-remodeling complex and a tumor suppressor in familial and ..
  17. Nguyen H, Sokpor G, Pham L, Rosenbusch J, Stoykova A, Staiger J, et al. Epigenetic regulation by BAF (mSWI/SNF) chromatin remodeling complexes is indispensable for embryonic development. Cell Cycle. 2016;15:1317-24 pubmed publisher
    ..These findings improve our understanding of epigenetic mechanisms and their modulation by the chromatin-remodeling SWI/SNF complexes that control embryonic development. ..
  18. Olave I, Wang W, Xue Y, Kuo A, Crabtree G. Identification of a polymorphic, neuron-specific chromatin remodeling complex. Genes Dev. 2002;16:2509-17 pubmed
    ..We speculate that bBAF complexes create neuronal-specific patterns of chromatin accessibility, thereby imparting new regulatory characteristics to ubiquitous sequence-specific transcription factors in neurons. ..
  19. Xu Y, Yan W, Chen X. SNF5, a core component of the SWI/SNF complex, is necessary for p53 expression and cell survival, in part through eIF4E. Oncogene. 2010;29:4090-100 pubmed publisher
    b>SNF5, a core component of the SWI/SNF chromatin remodeling complex, is expressed as two isoforms, SNF5a and SNF5b...
  20. Jagani Z, Mora Blanco E, Sansam C, McKenna E, Wilson B, Chen D, et al. Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway. Nat Med. 2010;16:1429-33 pubmed publisher
    ..We report that the chromatin remodeling protein SNF5 (encoded by SMARCB1, hereafter called SNF5), which is inactivated in human malignant rhabdoid tumors (MRTs), interacts with GLI1...
  21. Alver B, Kim K, Lu P, Wang X, Manchester H, Wang W, et al. The SWI/SNF chromatin remodelling complex is required for maintenance of lineage specific enhancers. Nat Commun. 2017;8:14648 pubmed publisher
    ..Our findings thus establish SWI/SNF complexes as regulators of the enhancer landscape and provide insight into the roles of SWI/SNF in cellular fate control. ..
  22. WILSON B, Wang X, Shen X, McKenna E, Lemieux M, Cho Y, et al. Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Cancer Cell. 2010;18:316-28 pubmed publisher
    ..Mechanistically, we show that loss of the SNF5 tumor suppressor leads to elevated expression of the Polycomb gene EZH2 and that Polycomb targets are broadly H3K27-..
  23. Smith M, Cimica V, Chinni S, Jana S, Koba W, Yang Z, et al. Therapeutically targeting cyclin D1 in primary tumors arising from loss of Ini1. Proc Natl Acad Sci U S A. 2011;108:319-24 pubmed publisher
    ..RTs are characterized by biallelic inactivation of the INI1 tumor suppressor gene...
  24. Jung I, Sohn D, Choi J, Kim J, Jeon S, Seol J, et al. SRG3/mBAF155 stabilizes the SWI/SNF-like BAF complex by blocking CHFR mediated ubiquitination and degradation of its major components. Biochem Biophys Res Commun. 2012;418:512-7 pubmed publisher
    ..The SWI/SNF-like BAF complex consists of several components including core subunits such as BRG1, BAF155/SRG3, BAF47/SNF5/INI1, and BAF170...
  25. Genovese G, Carugo A, TEPPER J, Robinson F, Li L, Svelto M, et al. Synthetic vulnerabilities of mesenchymal subpopulations in pancreatic cancer. Nature. 2017;542:362-366 pubmed publisher
    ..Transcriptomic and functional analyses of Kras-independent escapers reveal the presence of Smarcb1-Myc-network-driven mesenchymal reprogramming and independence from MAPK signalling...
  26. Harikrishnan K, Chow M, Baker E, Pal S, Bassal S, Brasacchio D, et al. Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat Genet. 2005;37:254-64 pubmed
    ..We show that Brm and MeCP2 assembly on chromatin occurs on methylated genes in cancer and the gene FMR1 in fragile X syndrome. These experimental findings identify a new role for SWI/SNF in gene repression by MeCP2. ..
  27. Darr J, Klochendler A, Isaac S, Geiger T, Geiger T, Eden A. Phosphoproteomic analysis reveals Smarcb1 dependent EGFR signaling in Malignant Rhabdoid tumor cells. Mol Cancer. 2015;14:167 pubmed publisher
    ..One core-subunit of the complex, which has been well established as a tumor suppressor gene is SMARCB1 (SNF5/INI1/BAF47)...
  28. Wang X, Sansam C, Thom C, Metzger D, Evans J, Nguyen P, et al. Oncogenesis caused by loss of the SNF5 tumor suppressor is dependent on activity of BRG1, the ATPase of the SWI/SNF chromatin remodeling complex. Cancer Res. 2009;69:8094-101 pubmed publisher
    ..b>SNF5, a core subunit of the SWI/SNF complex, is a potent tumor suppressor that is specifically inactivated in several ..
  29. Tolstorukov M, Sansam C, Lu P, Koellhoffer E, Helming K, Alver B, et al. Swi/Snf chromatin remodeling/tumor suppressor complex establishes nucleosome occupancy at target promoters. Proc Natl Acad Sci U S A. 2013;110:10165-70 pubmed publisher
    ..However, its role in establishing the nucleosome landscape in vivo is unclear. Here we have inactivated Snf5 and Brg1, core subunits of the mammalian Swi/Snf complex, to evaluate their effects on chromatin structure and ..
  30. Rousseau Merck M, Fiette L, Klochendler Yeivin A, Delattre O, Aurias A. Chromosome mechanisms and INI1 inactivation in human and mouse rhabdoid tumors. Cancer Genet Cytogenet. 2005;157:127-33 pubmed
    The human rhabdoid tumorigenesis orchestrated by INI1 inactivation is associated with specific rearrangements of chromosome 22 that correlate with preferential anatomic tumor locations...
  31. Chandler R, Brennan J, Schisler J, Serber D, Patterson C, Magnuson T. ARID1a-DNA interactions are required for promoter occupancy by SWI/SNF. Mol Cell Biol. 2013;33:265-80 pubmed publisher
    ..These findings support the model wherein cooperative interactions among intrinsic subunit-chromatin interaction domains and sequence-specific transcription factors drive SWI/SNF recruitment. ..
  32. Moreno N, Schmidt C, Ahlfeld J, Pöschl J, Dittmar S, Pfister S, et al. Loss of Smarc proteins impairs cerebellar development. J Neurosci. 2014;34:13486-91 pubmed publisher
    SMARCA4 (BRG1) and SMARCB1 (INI1) are tumor suppressor genes that are crucially involved in the formation of malignant rhabdoid tumors, such as atypical teratoid/rhabdoid tumor (AT/RT)...
  33. Darr J, Klochendler A, Isaac S, Eden A. Loss of IGFBP7 expression and persistent AKT activation contribute to SMARCB1/Snf5-mediated tumorigenesis. Oncogene. 2014;33:3024-32 pubmed publisher
    b>SMARCB1 (Snf5/Ini1/Baf47) is a potent tumor suppressor, the loss of which serves as the diagnostic feature in malignant rhabdoid tumors (MRT) and atypical teratoid/rhabdoid tumors (AT/RT), two highly aggressive forms of pediatric ..
  34. Ito T, Yamauchi M, Nishina M, Yamamichi N, Mizutani T, Ui M, et al. Identification of SWI.SNF complex subunit BAF60a as a determinant of the transactivation potential of Fos/Jun dimers. J Biol Chem. 2001;276:2852-7 pubmed
    ..These results indicate that a specific subset of Fos/Jun dimers recruits SWI.SNF complex via BAF60a to initiate transcription. ..
  35. Bultman S, Gebuhr T, Magnuson T. A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development. Genes Dev. 2005;19:2849-61 pubmed
    ..Not only does this mutation establish a role for Brg1 during organogenesis, it also demonstrates that ATPase activity can be uncoupled from chromatin remodeling. ..