Uterus hyperplasia and increased carcinogen-induced tumorigenesis in mice carrying a targeted mutation of the Chk2 phosphorylation site in Brca1

Mol Cell Biol. 2004 Nov;24(21):9498-507. doi: 10.1128/MCB.24.21.9498-9507.2004.

Abstract

The tumor suppressor BRCA1 contains multiple functional domains that interact with many proteins. After DNA damage, BRCA1 is phosphorylated by CHK2 at serine 988, followed by a change in its intracellular location. To study the functions of CHK2-dependent phosphorylation of BRCA1, we generated a mouse model carrying the mutation S971A (S971 in mouse Brca1 corresponds to S988 in human BRCA1) by gene targeting. Brca1(S971A/S971A) mice were born at the expected ratio without a developmental defect, unlike previously reported Brca1 mutant mice. However, Brca1(S971A/S971A) mice suffered a moderately increased risk of spontaneous tumor formation, with a majority of females developing uterus hyperplasia and ovarian abnormalities by 2 years of age. After treatment with DNA-damaging agents, Brca1(S971A/S971A) mice exhibited several abnormalities, including increased body weight, abnormal hair growth pattern, lymphoma, mammary tumors, and endometrial tumors. In addition, the onset of tumor formation became accelerated, and 80% of the mutant mice had developed tumors by 1 year of age. We demonstrated that the Brca1(S971A/S971A) cells displayed reduced ability to activate the G(2)/M cell cycle checkpoint upon gamma-irradiation and to stabilize p53 following N-methyl-N'-nitro-N-nitrosoguanidine treatment. These observations suggest that Chk2 phosphorylation of S971 is involved in Brca1 function in modulating the DNA damage response and repressing tumor formation.

MeSH terms

  • Aging
  • Animals
  • BRCA1 Protein / chemistry
  • BRCA1 Protein / genetics*
  • BRCA1 Protein / metabolism
  • Carcinogens / toxicity*
  • Cell Cycle / radiation effects
  • Cell Transformation, Neoplastic / chemically induced*
  • Cell Transformation, Neoplastic / metabolism
  • Cell Transformation, Neoplastic / pathology
  • Cell Transformation, Neoplastic / radiation effects
  • Checkpoint Kinase 2
  • DNA Damage
  • Female
  • Gamma Rays
  • Hyperplasia / chemically induced
  • Hyperplasia / genetics
  • Hyperplasia / metabolism
  • Hyperplasia / pathology*
  • Mammary Glands, Animal / drug effects
  • Mammary Glands, Animal / pathology
  • Mammary Glands, Animal / radiation effects
  • Methylnitronitrosoguanidine / pharmacology
  • Mice
  • Mutagenesis, Site-Directed / genetics*
  • Mutation / genetics
  • Phenotype
  • Phosphorylation
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / metabolism*
  • Serine / genetics
  • Serine / metabolism
  • Survival Rate
  • Uterus / drug effects
  • Uterus / metabolism
  • Uterus / pathology*

Substances

  • BRCA1 Protein
  • Carcinogens
  • Methylnitronitrosoguanidine
  • Serine
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Chek2 protein, mouse
  • Protein Serine-Threonine Kinases