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First comprehensive analysis of somatic mutations in miRNAs biogenesis

Scientists from the Department of Molecular Genetics at the Institute of Bioorganic Chemistry of the Polish Academy of Sciences are the authors of groundbreaking works in the field of cancer genetics. The analysis appeared in the journal "Nucleic Acids Research".

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Schematic depiction of miRNA biogenesis and functions of the miRNA biogenesis proteins/genes involved in the subsequent steps indicated and described in Table 1 in the article "A pan-cancer atlas of somatic mutations in miRNA biogenesis genes" © The Author (s) 2021. Published by the Oxford University Press on behalf of Nucleic Acids Research.

The work "A pan-cancer atlas of somatic mutations in miRNA biogenesis genes" presents the first comprehensive analysis (atlas) of somatic mutations in the genes of proteins involved in the formation MicroRNAs (miRNAs) and their functional role.

A team of researchers from the Department of Molecular Genetics at the PAS Institute of Bioorganic Chemistry conducted an analysis of the occurrence of somatic mutations in a panel of 29 genes involved in miRNA biogenesis and function. The team analyzed whole-exome sequencing datasets of over 10 000 various types of cancer sample pairs deposited within The Cancer Genome Atlas (TCGA) repository.

The authors identified and characterized over 3 600 somatic mutations. They also detected genes that were overmutated in specific types of cancers and identified a number of recurring hotspot mutations. Researchers showed that the presence of these mutations in genes such as SMAD4, SMAD2 or DICER1 influences the biogenesis of miRNA. What’s more it also correlates with a change in the level of miRNA expression and reduced patient survival.
The atlas of miRNA biogenesis alternations provides an useful source of information that could be used in biomedical research.

The authors include: Dr. Paulina Gałka-Marciniak, Dr. Martyna Urbanek-Trzeciak, Paulina Nawrocka, MA, and Prof. Piotr Kozłowski.

The editors of Nucleic Acids Research journal have appreciated the research results of Polish scientists by publishing them among NAR’s Breakthrough articles, which represent the top of NAR papers in terms of originality, significance and scientific excellence.

Source of information: PAS Institute of Bioorganic Chemistry