The single nucleotide polymorphism P47S (rs1800371) in TP53 is specific to populations of African descent. Jennis et al. reasoned that P47S might contribute to the increased risk of cancer in African American populations. P47S did not affect most p53 functions, but did impair transactivation of a subset of p53 target genes and inhibited cell death in response to cisplatin or agents that induce ferroptosis. Mice heterozygous or homozygous for P47S were predisposed to spontaneous cancers of various types, suggesting that this variant of p53 increases cancer risk.
References
Jennis, M. et al. An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model. Genes Dev. http://dx.doi.org/10.1101/gad.275891.115 (2016)
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Seton-Rogers, S. p53 variant increases cancer risk. Nat Rev Cancer 16, 273 (2016). https://doi.org/10.1038/nrc.2016.45
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DOI: https://doi.org/10.1038/nrc.2016.45