Ontology type: schema:ScholarlyArticle
2019-03
AUTHORSSeo-Young Lee, Jung-Hyun Park, Sangkyun Jeong, Bu-Yeo Kim, Yong-Kook Kang, Yang Xu, Sun-Ku Chung
ABSTRACTThe point mutation that substitutes lysine with arginine at position 120 of human p53 has been characterized as a missense mutation. The K120R mutation renders the p53 protein disabled for acetylation and, as a result, defective for apoptotic function, which provides a mechanistic link between the missense mutation and tumorigenesis. However, we noticed the failures of tumorigenesis in mice with the mutation, and of the related studies to notice that it has arbitrarily reflected in amino acid change through a sequence modification (AGA) of the original tumor mutation (AGG) by codon degeneracy. Unlike this modified version, we also discovered a novel splicing site the original mutation, TP53 c.359A>G, may induce. Using a human induced pluripotent stem cell line that was engineered to be homozygous for the original mutation, we here identified that the accidental splicing site generates a defective transcript variant with a frame-shifted premature termination codon which is subjected to nonsense-mediated mRNA decay. The authentic splicing still occurs but in extremely low amounts. Taken together, this mutation causes depletion of cellular p53 via defective mRNA, suggesting a new link to tumorigenesis. More... »
PAGES1597-1610
http://scigraph.springernature.com/pub.10.1038/s41388-018-0542-3
DOIhttp://dx.doi.org/10.1038/s41388-018-0542-3
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30348990
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