A retinoblastoma allele that is mutated at its common E2F interaction site inhibits cell proliferation in gene-targeted mice

Mol Cell Biol. 2014 Jun;34(11):2029-45. doi: 10.1128/MCB.01589-13. Epub 2014 Mar 24.

Abstract

The retinoblastoma protein (pRB) is best known for regulating cell proliferation through E2F transcription factors. In this report, we investigate the properties of a targeted mutation that disrupts pRB interactions with the transactivation domain of E2Fs. Mice that carry this mutation endogenously (Rb1(ΔG)) are defective for pRB-dependent repression of E2F target genes. Except for an accelerated entry into S phase in response to serum stimulation, cell cycle regulation in Rb1(ΔG/ΔG) mouse embryonic fibroblasts (MEFs) strongly resembles that of the wild type. In a serum deprivation-induced cell cycle exit, Rb1(ΔG/ΔG) MEFs display a magnitude of E2F target gene derepression similar to that of Rb1(-/-) cells, even though Rb1(ΔG/ΔG) cells exit the cell cycle normally. Interestingly, cell cycle arrest in Rb1(ΔG/ΔG) MEFs is responsive to p16 expression and gamma irradiation, indicating that alternate mechanisms can be activated in G1 to arrest proliferation. Some Rb1(ΔG/ΔG) mice die neonatally with a muscle degeneration phenotype, while the others live a normal life span with no evidence of spontaneous tumor formation. Most tissues appear histologically normal while being accompanied by derepression of pRB-regulated E2F targets. This suggests that non-E2F-, pRB-dependent pathways may have a more relevant role in proliferative control than previously identified.

Publication types

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

MeSH terms

  • Adenocarcinoma / genetics
  • Alleles
  • Animals
  • Binding Sites
  • Cell Line
  • Cell Proliferation
  • Cyclin-Dependent Kinase Inhibitor p16 / biosynthesis
  • E2F Transcription Factors / metabolism*
  • Fibroblasts / cytology
  • Gene Targeting
  • Mice
  • Mice, Knockout
  • Mutation
  • Pituitary Neoplasms / genetics
  • Retinoblastoma Protein / genetics*
  • Retinoblastoma Protein / metabolism*
  • S Phase / genetics
  • S Phase Cell Cycle Checkpoints / genetics*

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • E2F Transcription Factors
  • Retinoblastoma Protein