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The codon 47 polymorphism in p53 is functionally significant.

Xiaoxian Li¹, Patrick Dumont, Anthony Della Pietra

¹Cell and Developmental Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA.

The Journal of Biological Chemistry

|April 27, 2005

Summary

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A rare p53 gene variant (codon 47 serine) impairs apoptosis induction by reducing p38 MAPK phosphorylation. This p53 polymorphism may influence cancer risk and therapy effectiveness.

Area of Science:

Molecular Biology
Genetics
Cancer Research

Background:

The p53 tumor suppressor gene has a common polymorphism at codon 72.
A rare single nucleotide polymorphism exists at codon 47, altering proline to serine in <5% of African Americans.

Purpose of the Study:

To investigate the functional significance of the p53 codon 47 serine variant.
To determine the impact of this variant on p53's apoptotic function and gene transactivation.

Main Methods:

Assessed p38 MAPK phosphorylation of wild-type and serine 47 p53 variants.
Measured apoptosis induction and transactivation of p53 target genes (p53AIP1, PUMA).
Utilized short interfering RNAs to down-regulate PUMA expression.

Main Results:

Related Experiment Videos

The serine 47 variant is a poorer substrate for p38 MAPK phosphorylation at serine 46.
Apoptosis induction was reduced up to 5-fold in cells with the serine 47 variant.
Transactivation of p53AIP1 and PUMA was decreased, with PUMA showing novel linkage to serine 46 phosphorylation.

Conclusions:

The p53 codon 47 polymorphism is functionally significant, impacting apoptosis and gene regulation.
This variant may influence cancer risk, disease progression, and therapeutic outcomes.
Serine 46 phosphorylation is implicated in PUMA transactivation by p53.