The role of SMARCB1/INI1 in development of rhabdoid tumor

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Proliferation
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / physiology
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Humans
  • Models, Biological
  • Mutation*
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / physiopathology
  • SMARCB1 Protein
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors