Single-nucleotide polymorphisms in the p53 pathway

S. L. Harris, G. Gil, W. Hu, H. Robins, E. Bond, K. Hirshfield, Z. Feng, X. Yu, A. K. Teresky, G. Bond, A. J. Levine

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


A cell culture assay has been developed that detects and validates single-nucleotide polymorphisms (SNPs) in genes that populate the p53 pathway. One hundred thirteen EBV-transformed human B-lymphocyte cell lines obtained from a diverse population were employed to measure the apoptotic response to gamma radiation. Each cell line undergoes a reproducible, characteristic frequency of apoptosis, and the response of the population forms a normal distribution around a median of 35.5% apoptosis with a range from 12% to 58% apoptosis. Polymorphisms in the AKT1 and Perp genes significantly affect the frequency of apoptosis. The assay can detect both racial and sexual dimorphisms in these genes and has the ability to demonstrate epistatic relationships within the p53 pathway. The cell lines used in this assay provide biological materials to explore the molecular basis of the polymorphisms.

Original languageEnglish (US)
Pages (from-to)111-119
Number of pages9
JournalCold Spring Harbor symposia on quantitative biology
StatePublished - 2005

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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