Beclin 1, an autophagy gene essential for early embryonic development, is a haploinsufficient tumor suppressor

Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):15077-82. doi: 10.1073/pnas.2436255100. Epub 2003 Dec 1.

Abstract

The biochemical properties of beclin 1 suggest a role in two fundamentally important cell biological pathways: autophagy and apoptosis. We show here that beclin 1-/- mutant mice die early in embryogenesis and beclin 1+/- mutant mice suffer from a high incidence of spontaneous tumors. These tumors continue to express wild-type beclin 1 mRNA and protein, establishing that beclin 1 is a haploinsufficient tumor suppressor gene. Beclin 1-/- embryonic stem cells have a severely altered autophagic response, whereas their apoptotic response to serum withdrawal or UV light is normal. These results demonstrate that beclin 1 is a critical component of mammalian autophagy and establish a role for autophagy in tumor suppression. They both provide a biological explanation for recent evidence implicating beclin 1 in human cancer and suggest that mutations in other genes operating in this pathway may contribute to tumor formation through deregulation of autophagy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis
  • Apoptosis Regulatory Proteins
  • Autophagy*
  • Beclin-1
  • Embryo, Mammalian / cytology
  • Gene Deletion
  • Genes, Tumor Suppressor*
  • Membrane Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Microscopy, Electron
  • Models, Genetic
  • Mutation
  • Neoplasms / metabolism
  • Proteins / genetics*
  • Proteins / physiology*
  • RNA, Messenger / metabolism
  • Time Factors
  • Ultraviolet Rays

Substances

  • Apoptosis Regulatory Proteins
  • BECN1 protein, human
  • Beclin-1
  • Becn1 protein, mouse
  • Membrane Proteins
  • Proteins
  • RNA, Messenger