Kurnosov Alexey A, Ustyugova Svetlana V, Nazarov Vadim I, Minervina Anastasia A, Komkov Alexander Yu, Shugay Mikhail, Pogorelyy Mikhail V, Khodosevich Konstantin V, Mamedov Ilgar Z, Lebedev Yuri B
Laboratory of Comparative and Functional Genomics, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry Russ. Acad. of Sci., Moscow, Russia.
Laboratory of Comparative and Functional Genomics, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry Russ. Acad. of Sci., Moscow, Russia; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California, United States of America.
PLoS One. 2015 Feb 17;10(2):e0117854. doi: 10.1371/journal.pone.0117854. eCollection 2015.
Retroelement activity is a common source of polymorphisms in human genome. The mechanism whereby retroelements contribute to the intraindividual genetic heterogeneity by inserting into the DNA of somatic cells is gaining increasing attention. Brain tissues are suspected to accumulate genetic heterogeneity as a result of the retroelements somatic activity. This study aims to expand our understanding of the role retroelements play in generating somatic mosaicism of neural tissues. Whole-genome Alu and L1 profiling of genomic DNA extracted from the cerebellum, frontal cortex, subventricular zone, dentate gyrus, and the myocardium revealed hundreds of somatic insertions in each of the analyzed tissues. Interestingly, the highest concentration of such insertions was detected in the dentate gyrus-the hotspot of adult neurogenesis. Insertions of retroelements and their activity could produce genetically diverse neuronal subsets, which can be involved in hippocampal-dependent learning and memory.
逆转录元件活性是人类基因组中多态性的常见来源。逆转录元件通过插入体细胞DNA导致个体内遗传异质性的机制正受到越来越多的关注。由于逆转录元件的体细胞活性,脑组织被怀疑会积累遗传异质性。本研究旨在加深我们对逆转录元件在产生神经组织体细胞嵌合现象中所起作用的理解。从小脑、额叶皮质、脑室下区、齿状回和心肌中提取的基因组DNA进行全基因组Alu和L1分析,结果显示在每个分析组织中都有数百个体细胞插入。有趣的是,在齿状回(成体神经发生的热点区域)中检测到此类插入的最高浓度。逆转录元件的插入及其活性可产生基因多样化的神经元亚群,这些亚群可能参与海马体依赖的学习和记忆。