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Nonsynonymous Single Nucleotide Substitutions and Indels: Contribution to the Molecular Postgenome Portrait of the HepG2 Cell Line

Biology Bulletin Reviews(2023)

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Abstract
A comparative analysis of the results of genomic, transcriptomic, and proteomic profiling of HepG2 cell line samples was carried out in the gene-centric mode. The traceability of changes associated with the presence of nonsynonymous single nucleotide substitutions and indels in the genome at the transcriptomic and proteomic levels was shown. At the transcriptomic level, most of the molecular events caused by aberrations at the genomic level are recorded. At the same time, only single proteoforms can be detected among those encoded by the selected mutant genes. This is probably associated with the methodological limitations of proteomic methods, which do not allow registration of proteoforms present in the sample at low concentrations. The results of the study are consistent with previously obtained data from other scientific groups and describe the fundamental methodological solutions required to decipher the molecular postgenomic portrait of biological samples with a resolution at the level of aberrant molecules.
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Key words
mutations,genome,transcriptome,proteome,proteoforms,molecular profiling
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