Investigations on a clinically and functionally unusual and novel germline p53 mutation.
Bottom Line: Surprisingly two assays of p53 function gave apparently wild-type results on peripheral blood lymphocytes from this individual.These results led us to carry out more detailed functional tests on the mutant protein.However, surprisingly, data from irradiated peripheral blood lymphocytes and transfected Saos-2 cells, suggested that this truncated, mutant protein retains significant ability to induce apoptosis.
Affiliation: Richard Dimbleby Department Cancer Research, Guy's, King's and St Thomas' School of Medicine, St Thomas' Hospital, London SE1 7EH, UK.Show MeSH
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Mentions: Apoptosis in Saos-2 cells can be induced by the expression of wild-type p53. Saos-2 cells were transfected with the mammalian expression plasmid pC53-SN3, which contained the 7 base pair insertion mutation of p53. Controls used included wild-type p53, 337C p53 (a semi-functional mutant) and 344P p53. The results showed that the 7 base pair insertion mutation retains 65% of the ability to induce apoptosis compared with wild-type (Figure 5Figure 5
Affiliation: Richard Dimbleby Department Cancer Research, Guy's, King's and St Thomas' School of Medicine, St Thomas' Hospital, London SE1 7EH, UK.