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Abstract <p><i>NF1</i> (<i>neurofibromin 1</i>) is a tumor suppressor gene, whose mutations cause neurofibromatosis type 1 and malignant tumors. Analysis of the scientific literature made it possible to determine the relationship between the <i>NF1</i> gene and retroelements, as evidenced by the presence of 12 <i>NF1</i> pseudogenes in the human genome, located on seven different chromosomes, since pseudogenes are formed with help of LINE enzymes. In addition, introns of the <i>NF1</i> gene contain polymorphic Alu insertions, which are the cause of increased mutability of <i>NF1</i> owing to recombination. The <i>NF1</i> gene also contains hotspots of insertional mutagenesis for LINE and Alu retroelements and is characterized by expression of several splice variants, whose levels change in different tissues and at different periods of ontogenetic development may be due to interactions with retroelements characterized by tissue- and organ-specific activation. Using the combined MDTE DB and MiRDB analysis, we identified 27 miRNAs derived from retroelements (miR-374c-5p, -552-3p, -576-5p, -582-5p, -625-5p, -1271-5p, -1285-3p, -3163, -3168, -3617-5p, -3681-3p, -4452, -4457, -4676-3p, -4797-3p, -4801, -5003-3p, -5584-5p, -5684, -6500-5p, -6887-5p, -7151-3p, -7851-3p, -8084, -9985, ‑10523-5p, -10524-5p), which target the 3'UTR of the <i>NF1</i> gene. This indicates the presence of complementary sequences to retroelements in the <i>NF1</i> gene and the possibility of using microRNAs as objects for targeted therapy of neurofibromatosis type 1 and malignant tumors with mutations in the <i>NF1</i> gene. Evolutionary association with retroelements may be responsible for the functionality of transcripts of the <i>NF1</i> gene and pseudogenes, one manifestation of which is circNF1, formed from exons 2–8 of the <i>NF1</i> gene.</p>

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Prospects for Studying the Interrelations of the Neurofibromin 1 Gene with Retroelements

  • 期刊论文

  • 发表日期：

    2026年1月1日

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  • R. N. Mustafin

摘要

Abstract

NF1 (neurofibromin 1) is a tumor suppressor gene, whose mutations cause neurofibromatosis type 1 and malignant tumors. Analysis of the scientific literature made it possible to determine the relationship between the NF1 gene and retroelements, as evidenced by the presence of 12 NF1 pseudogenes in the human genome, located on seven different chromosomes, since pseudogenes are formed with help of LINE enzymes. In addition, introns of the NF1 gene contain polymorphic Alu insertions, which are the cause of increased mutability of NF1 owing to recombination. The NF1 gene also contains hotspots of insertional mutagenesis for LINE and Alu retroelements and is characterized by expression of several splice variants, whose levels change in different tissues and at different periods of ontogenetic development may be due to interactions with retroelements characterized by tissue- and organ-specific activation. Using the combined MDTE DB and MiRDB analysis, we identified 27 miRNAs derived from retroelements (miR-374c-5p, -552-3p, -576-5p, -582-5p, -625-5p, -1271-5p, -1285-3p, -3163, -3168, -3617-5p, -3681-3p, -4452, -4457, -4676-3p, -4797-3p, -4801, -5003-3p, -5584-5p, -5684, -6500-5p, -6887-5p, -7151-3p, -7851-3p, -8084, -9985, ‑10523-5p, -10524-5p), which target the 3'UTR of the NF1 gene. This indicates the presence of complementary sequences to retroelements in the NF1 gene and the possibility of using microRNAs as objects for targeted therapy of neurofibromatosis type 1 and malignant tumors with mutations in the NF1 gene. Evolutionary association with retroelements may be responsible for the functionality of transcripts of the NF1 gene and pseudogenes, one manifestation of which is circNF1, formed from exons 2–8 of the NF1 gene.