Omotoso, O.E. Mutational Hotspots and Conserved Domains in P53 Tumour Suppressor Protein. Preprints2020, 2020080562. https://doi.org/10.20944/preprints202008.0562.v1
APA Style
Omotoso, O.E. (2020). Mutational Hotspots and Conserved Domains in P53 Tumour Suppressor Protein. Preprints. https://doi.org/10.20944/preprints202008.0562.v1
Chicago/Turabian Style
Omotoso, O.E. 2020 "Mutational Hotspots and Conserved Domains in P53 Tumour Suppressor Protein" Preprints. https://doi.org/10.20944/preprints202008.0562.v1
Abstract
Introduction: The tumour suppressor protein p53 commonly referred to as guardian of the genome plays important role in preserving the genome through the regulation of programmed cell death, DNA repair, energy metabolism, cell cycle entry or exit and senescence. Mutations in p53 can either result to a loss of tumour suppressor function or gain of oncogenic properties. Hence, mutations in p53 are the most frequent genetic mutational alteration in human cancers, associated with worse prognosis and more aggressive disease outcome. Methods: To assess the mutational hotspots and conserved regions of p53, I analyzed 76 complete p53 protein sequences covering whole exons from the NCBI GenBank database. Multiple sequence alignment (MSA) was done using ClustalX version 2.1. Results: Thirty-five (19) mutations were identified with more frequent mutations in amino acid (aa) position 72 and 79 (Exon 4), amino acid deletion in codon 112-122 (Exon 4), codon 213 (Exon 6), codon 248 (Exon 7), codon 273 (Exon 8) and codon 278 (Exon 8). Mutations at amino acid position 79, 248, 278 located in the DNA-binding domain exhibited more than one alteration in same position. Conclusions: Findings from this study revealed the prevalence of mutations in the DNA binding domain of p53 and the structure-function effect of the mutations. Assessing the pattern and frequency of p53 alterations, and analyzing it thoroughly for each carrier, could help in identifying correlations between p53 status and outcome and possible candidate for gene therapy.
Medicine and Pharmacology, Oncology and Oncogenics
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
The commenter has declared there is no conflict of interests.
Comment:
I remembered during my masters dissertation, I had to work on genomic variation in Gynecological cancers with respect to p53 mutations. Very few literatures covered the entire landscape (11 exons) of p53 protein.
The major highlight of this article is to assist researchers studying the p53 (guardian of the genome) on the most recurrent or mutational hotspots in the p53 protein.
Commenter:
The commenter has declared there is no conflict of interests.
The major highlight of this article is to assist researchers studying the p53 (guardian of the genome) on the most recurrent or mutational hotspots in the p53 protein.