An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model.

@article{Jennis2016AnAP,
  title={An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model.},
  author={Matthew Jennis and Che-Pei Kung and Subhasree Basu and Anna Budina-Kolomets and Julia I-Ju Leu and Sakina Khaku and Jeremy P. Scott and Kathy Qi Cai and Michelle R. Campbell and Devin K. Porter and Xuting Wang and Douglas A. Bell and Xiaoxian Li and David S. Garlick and Qin Liu and M Hollstein and Donna L. George and Maureen E Murphy},
  journal={Genes & development},
  year={2016},
  volume={30 8},
  pages={
          918-30
        }
}
A nonsynonymous single-nucleotide polymorphism at codon 47 in TP53 exists in African-descent populations (P47S, rs1800371; referred to here as S47). Here we report that, in human cell lines and a mouse model, the S47 variant exhibits a modest decrease in apoptosis in response to most genotoxic stresses compared with wild-type p53 but exhibits a significant defect in cell death induced by cisplatin. We show that, compared with wild-type p53, S47 has nearly indistinguishable transcriptional… CONTINUE READING

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