Pharmacogenomics Laboratory publication "The position of the longest intron is related to biological functions in some human genes"

At the beginning of the new year, a bioinformatics article is published in the journal Frontiers in Genetics (Q1 in the Genetics & Heredity category) for the employees of the BC Pharmacogenomics Laboratory and the LFP Institute of Biology. The work, conceived as a pilot study, more closely characterizes the location of the longest intron within the sequence of human protein-coding genes. The previously known general information that the longest intron in eukaryotic organisms is usually the first intron, or one of the introns at the beginning of the gene, is clarified. According to our work, there are approximately 60% of such genes in the human genome. The article also focuses on genes in which the longest intron is located only in the second or third third of the gene. Using gene set enrichment analysis, it was possible to prove that for some genes there is a significant relationship between the location of the longest intron and their biological function. Of the genes important for the study of carcinogenesis, such genes include, for example, genes for DNA repair. The work also suggests a possible influence of the position of the longest intron on the tissue-specific level of gene expression. The laboratory will continue to focus on this newly formulated topic and look for its more specific connection to other topics of clinical research taking place in the laboratory with a focus on precision oncology.

The article is freely available to other researchers at: Frontiers | The position of the longest intron is related to biological functions in some human genes (


Charles University
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