دورية أكاديمية
أعرض في EDS

Comprehensive assessment of TP53 loss of function using multiple combinatorial mutagenesis libraries

التفاصيل البيبلوغرافية
العنوان: Comprehensive assessment of TP53 loss of function using multiple combinatorial mutagenesis libraries
المؤلفون: Vincent Carbonnier, Bernard Leroy, Shai Rosenberg, Thierry Soussi
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
بيانات النشر: Nature Portfolio, 2020.
سنة النشر: 2020
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: Abstract The diagnosis of somatic and germline TP53 mutations in human tumors or in individuals prone to various types of cancer has now reached the clinic. To increase the accuracy of the prediction of TP53 variant pathogenicity, we gathered functional data from three independent large-scale saturation mutagenesis screening studies with experimental data for more than 10,000 TP53 variants performed in different settings (yeast or mammalian) and with different readouts (transcription, growth arrest or apoptosis). Correlation analysis and multidimensional scaling showed excellent agreement between all these variables. Furthermore, we found that some missense mutations localized in TP53 exons led to impaired TP53 splicing as shown by an analysis of the TP53 expression data from the cancer genome atlas. With the increasing availability of genomic, transcriptomic and proteomic data, it is essential to employ both protein and RNA prediction to accurately define variant pathogenicity.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2045-2322
Relation: https://doaj.org/toc/2045-2322
DOI: 10.1038/s41598-020-74892-2
URL الوصول: https://doaj.org/article/0b0146cc59364ff9b0de255c6286014d
رقم الأكسشن: edsdoj.0b0146cc59364ff9b0de255c6286014d
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20452322
DOI:10.1038/s41598-020-74892-2