Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice

Mol Cell Biol. 2001 May;21(10):3598-603. doi: 10.1128/MCB.21.10.3598-3603.2001.

Abstract

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. Here we report that disruption of Ini1 expression in mice results in early embryonic lethality. 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. Furthermore, we report that approximately 15% of Ini1-heterozygous mice present with tumors, mostly undifferentiated or poorly differentiated sarcomas. Tumor formation is associated with a loss of heterozygocity at the Ini1 locus, characterizing Ini1 as a tumor suppressor in mice. Thus, Ini1 is essential for embryo viability and for repression of oncogenesis in the adult organism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Transformation, Neoplastic / genetics
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins / genetics*
  • Embryonic and Fetal Development / genetics
  • Gene Expression Regulation, Developmental*
  • Genes, Tumor Suppressor
  • Mice
  • Mice, Knockout
  • SMARCB1 Protein

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • Smarcb1 protein, mouse