Non-Synonymous Single-Nucleotide Mutations and Indels: Contribution to the Molecular Postgenome Portrait of the HepG2 Cell Line

E. V. Poverennaya; Поверенная Е. В.; O. I. Kiseleva; Киселева О. И.; V. A. Arzumanian; Арзуманян В. А.; M. V. Pyatnitskiy; Пятницкий М. А.; I. V. Vakhrushev; Вахрушев И. В.; E. A. Ponomarenko; Пономаренко Е. А.

doi:10.31857/S0042132423020096

Non-Synonymous Single-Nucleotide Mutations and Indels: Contribution to the Molecular Postgenome Portrait of the HepG2 Cell Line

作者: Poverennaya E.V.¹, Kiseleva O.I.¹, Arzumanian V.A.¹, Pyatnitskiy M.V.¹, Vakhrushev I.V.¹, Ponomarenko E.A.¹
隶属关系:
1. Orekhovich Institute of Biomedical Chemistry
期: 卷 143, 编号 2 (2023)
页面: 107-113
栏目: Articles
##submission.dateSubmitted##: 02.02.2025
##submission.datePublished##: 01.03.2023
URL: https://vestnik.nvsu.ru/0042-1324/article/view/653255
DOI: https://doi.org/10.31857/S0042132423020096
EDN: https://elibrary.ru/KMZWKK
ID: 653255

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A comparative analysis of the results of genomic, transcriptomic, and proteomic profiling of HepG2 cell line was carried out in the gene-centric mode. The traceability at the transcriptomic and proteomic levels of changes associated with nonsynonymous single nucleotide substitutions and indels in the genome was shown. Most of the molecular events caused by aberrations at the genomic level are recorded at the transcriptomic level. Only single proteoforms encoded by the selected mutant genes can be reliably detected due to the methodological limitations of proteomic methods, which do not allow the registration of proteoforms present in the sample at low concentrations. The results are consistent with the previously obtained data of other scientific groups and describe the principal methodological solutions required for deciphering the molecular postgenomic portrait of biological samples with a resolution at the level of aberrant molecules.

关键词

mutations, genome, transcriptome, proteome, proteoforms, molecular profiling

参考

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