基因内L1插入：脑部疾病的一种可能性。
Intragenic L1 Insertion: One Possibility of Brain Disorder.
作者信息
Son Ji-Hoon, Do Hyunsu, Han Jinju
机构信息
Graduate School of Medical Science and Engineering, Korea Advanced Institute for Science and Technology (KAIST), Daejeon 34141, Korea.
BioMedical Research Center, KAIST, Daejeon 34141, Korea.
出版信息
Life (Basel). 2022 Sep 13;12(9):1425. doi: 10.3390/life12091425.
Long interspersed nuclear element 1 (LINE1, L1) is a retrotransposon comprising ~17% of the human genome. A subset of L1s maintains the potential to mobilize and alter the genomic landscape, consequently contributing to the change in genome integrity and gene expression. L1 retrotransposition occurs in the human brain regardless of disease status. However, in the brain of patients with various brain diseases, the expression level and copy number of L1 are significantly increased. In this review, we briefly introduce the methodologies applied to measure L1 mobility and identify genomic loci where new insertion of L1 occurs in the brain. Then, we present a list of genes disrupted by L1 transposition in the genome of patients with brain disorders. Finally, we discuss the association between genes disrupted by L1 and relative brain disorders.
长散在核元件1（LINE1，L1）是一种逆转座子，占人类基因组的约17%。一部分L1保留了移动和改变基因组格局的潜力，从而导致基因组完整性和基因表达的变化。无论疾病状态如何，L1逆转座均会在人类大脑中发生。然而，在患有各种脑部疾病的患者大脑中，L1的表达水平和拷贝数会显著增加。在本综述中，我们简要介绍了用于测量L1移动性和鉴定大脑中发生L1新插入的基因组位点的方法。然后，我们列出了脑部疾病患者基因组中因L1转座而破坏的基因清单。最后，我们讨论了因L1破坏的基因与相关脑部疾病之间的关联。
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