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Gene Review

Smarcb1  -  SWI/SNF related, matrix associated, actin...

Mus musculus

Synonyms: AU020204, BAF47, BRG1-associated factor 47, Baf47, Ini1, ...
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Disease relevance of Smarcb1

  • We have developed an innovative and widely applicable analytical technique for cross-species validation of cancer models and show that the gene expression profiles of our Snf5 murine models closely resemble those of human Snf5-deficient rhabdoid tumors [1].

High impact information on Smarcb1


Biological context of Smarcb1


Anatomical context of Smarcb1

  • Ini1-null embryos die between 3.5 and 5.5 days postcoitum, and Ini1-null blastocysts fail to hatch, form the trophectoderm, or expand the inner cell mass when cultured in vitro [6].
  • 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 CD8(+) T cell lymphoma or rare rhabdoid tumors with a median onset of only 11 weeks [5].

Other interactions of Smarcb1

  • Although Ini1-null mice are embryonic lethal, 15-30% of mice heterozygous for Ini1 presented with poorly differentiated tumors with variable rhabdoid features [4].

Analytical, diagnostic and therapeutic context of Smarcb1


  1. Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Isakoff, M.S., Sansam, C.G., Tamayo, P., Subramanian, A., Evans, J.A., Fillmore, C.M., Wang, X., Biegel, J.A., Pomeroy, S.L., Mesirov, J.P., Roberts, C.W. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  2. Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Roberts, C.W., Galusha, S.A., McMenamin, M.E., Fletcher, C.D., Orkin, S.H. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  3. Increased DNA damage sensitivity and apoptosis in cells lacking the Snf5/Ini1 subunit of the SWI/SNF chromatin remodeling complex. Klochendler-Yeivin, A., Picarsky, E., Yaniv, M. Mol. Cell. Biol. (2006) [Pubmed]
  4. Transcriptional compensation for loss of an allele of the Ini1 tumor suppressor. Guidi, C.J., Veal, T.M., Jones, S.N., Imbalzano, A.N. J. Biol. Chem. (2004) [Pubmed]
  5. Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Roberts, C.W., Leroux, M.M., Fleming, M.D., Orkin, S.H. Cancer Cell (2002) [Pubmed]
  6. Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice. Guidi, C.J., Sands, A.T., Zambrowicz, B.P., Turner, T.K., Demers, D.A., Webster, W., Smith, T.W., Imbalzano, A.N., Jones, S.N. Mol. Cell. Biol. (2001) [Pubmed]
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