Inactivation of the retinoblastoma tumor suppressor induces apoptosis protease-activating factor-1 dependent and independent apoptotic pathways during embryogenesis

Cancer Res. 2001 Dec 1;61(23):8395-400.

Abstract

Inactivation of the retinoblastoma (Rb) tumor suppressor in the mouse induces mid-gestational death accompanied by massive apoptosis in certain tissues. Herein, we analyzed the role of the apoptosis protease-activating factor Apaf-1, an essential component of the apoptosome, in mediating apoptosis in Rb-deficient mice. Analysis of compound mutant embryos lacking Rb and Apaf-1 revealed that Apaf-1 was absolutely required for apoptosis in the central nervous system and lens. In contrast, apoptosis in the peripheral nervous system and skeletal muscles only partly depended on Apaf-1 function. The dependency on Apaf-1 coincided with the requirement documented previously for E2F1 and p53 in the respective tissues. Loss of Apaf-1 specifically suppressed apoptosis but not the proliferation and differentiation defects in Rb-mutant embryos. We also show that the Apaf1+ but not the Rb+ allele is retained in pituitary tumors arising in Rb+/-:Apaf1+/- double heterozygous mice. Our results indicate that Apaf-1 plays a critical role in apoptosis in a subset of tissues and that both E2F1:p53:Apaf-1-dependent and -independent apoptotic pathways operate downstream of Rb.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / genetics
  • Apoptosis / physiology*
  • Apoptotic Protease-Activating Factor 1
  • Cell Cycle Proteins*
  • DNA-Binding Proteins*
  • E2F Transcription Factors
  • E2F1 Transcription Factor
  • Embryonic and Fetal Development / genetics*
  • Female
  • Gene Expression Regulation, Developmental
  • Gene Silencing*
  • Genes, Retinoblastoma / genetics
  • Genes, Retinoblastoma / physiology*
  • Lens, Crystalline / embryology
  • Lens, Crystalline / metabolism
  • Male
  • Mice
  • Muscle, Skeletal / embryology
  • Muscle, Skeletal / metabolism
  • Pituitary Neoplasms / genetics
  • Pituitary Neoplasms / metabolism
  • Pituitary Neoplasms / pathology
  • Pregnancy
  • Proteins / genetics
  • Proteins / physiology*
  • Transcription Factors / physiology
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / physiology

Substances

  • Apaf1 protein, mouse
  • Apoptotic Protease-Activating Factor 1
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • E2F Transcription Factors
  • E2F1 Transcription Factor
  • E2f1 protein, mouse
  • Proteins
  • Transcription Factors
  • Tumor Suppressor Protein p53