We are pleased to announce that a paper by the team of scientists from the ICHB PAN, consisting of Paulina Gałka-Marciniak, Martyna Olga Urbanek-Trzeciak, Daniel Kuźnicki, Natalia Szostak, Adrian Tiré, Paulina Maria Nawrocka-Muszyńska, Katarzyna Chojnacka, Malwina Suszyńska, Katarzyna Klonowska, Karol Czubak, Magdalena Machowska, Anna Philips, Konstantin Maksin, Laura Susok, Michael Sand, Janusz Ryś, Jolanta Jura, Magdalena Ratajska, Hanna Dams-Kozłowska, Janusz Kowalewski, Marzena Anna Lewandowska, and Piotr Kozłowski, was published in Nucleic Acids Research. This is the sixteenth paper concluding the NCN MAESTRO grant led by Prof. Piotr Kozłowski, dedicated to the analysis of somatic cancer mutations in miRNA genes.

The publication, entitled “Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes”, describes the development and validation of the first approach enabling targeted sequencing of all human microRNA (miRNA) genes (~2000) as well as genes involved in their biogenesis. This new method fills a critical research gap, as dedicated tools for analyzing genetic variability within miRNA genes have been lacking, despite their known key role in numerous diseases, including cancers.

In the frame of the project, hundreds of DNA samples, including ~300 tumor–normal tissue pairs from lung, colorectal, ovarian, kidney, and basal cell skin cancers, were analysed. Using the developed WMS method, approximately 2,000 mutations were identified, 879 of which were in miRNA genes. These mutations were located in all parts of the genes, including sites essential for the proper miRNA function. The analysis identified several miRNA genes with functional enrichment of cancer mutations, suggesting their potential role in this cancer. WMS also allowed the identification of multiple copy number alterations, hotspots of which often encompassed miRNA genes. Overall, WMS provides an efficient and cost-effective approach for sequencing all miRNA genes across various sample types, including highly degraded materials such as formalin-fixed paraffin-embedded (FFPE) blocks.

Link to the full paper below:

https://academic.oup.com/nar/article/53/16/gkaf812/8242316