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Review
. 2009 Mar;8(5):412-6.
doi: 10.4161/cbt.8.5.8019. Epub 2009 Mar 29.

The role of SMARCB1/INI1 in development of rhabdoid tumor

Charles W M Roberts  1 , Jaclyn A Biegel
Affiliations
Review

The role of SMARCB1/INI1 in development of rhabdoid tumor

Charles W M Roberts et al. Cancer Biol Ther. 2009 Mar.

Abstract

A note about nomenclature: The ortholog of the gene mutated in rhabdoid tumors was first studied in yeast where it was identified in a screen for mutants incapable of fermenting sucrose. It was thus given the name Sucrose Non-Fermenting gene number 5 (SNF5) and was subsequently found to be a member of the SWI/SNF chromatin remodeling complex. The human ortholog of the gene was identified in a screen for proteins capable of interacting with the integrase protein of the human immunodeficiency virus and was given the name INtegrase Interactor 1 (INI1). Investigators studying a mammalian version of the Swi/Snf complex felt that its function may have diverged somewhat from the yeast complex and thus proposed renaming the complex the Brg1/Brm Associated Factors complex, or BAF complex. The rhabdoid tumor gene was thus given the name BAF47 based upon its apparent molecular mass of 47 Kd. Most recently, the genetic nomenclature committee bestowed the name SMARCB1 for SWI/SNF related, Matrix associated, Actin dependent Regulator of Chromatin, subfamily B, member 1. Each of these names has been used extensively in the literature and we ourselves have referred to the gene as either SNF5 (CWMR) or INI1 (JAB). In an effort to simplify communication, we have chosen to use the official SMARCB1 nomenclature here.

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Figures

Figure 1
Figure 1
Cancer-related effects of SMARCB1 loss.
See this image and copyright information in PMC

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References

    1. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: Definition of an entity. J Neurosurg. 1996;85:56–65. - PubMed
    1. Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28:644–650. - PubMed
    1. Biegel JA, Rorke LB, Packer RJ, Emanuel BS. Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990;73:710–714. - PubMed
    1. Douglass EC, Valentine M, Rowe ST, Parham DM, Wilimas JA, Sanders JM, et al. Malignant rhabdoid tumor: A highly malignant childhood tumor with minimal karyotypic changes. Genes Chromosomes Cancer. 1990;2:210–216. - PubMed
    1. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59:74–79. - PubMed

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