相关实验视频

Updated: Jul 25, 2025

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

Published on: May 19, 2019

在自闭症中对L1逆转移素表达的探索性分析

Giovanni Spirito^1,2,3, Michele Filosi^4,5, Enrico Domenici^4,6

¹Scuola Internazionale Superiore di Studi Avanzati (SISSA), Area of Neuroscience, Via Bonomea 265, 34136, Trieste, Italy.

Molecular autism

|June 28, 2023

概括

可转移的L1元素在自闭症谱系障碍 (ASD) 个体的子集上调,与基因放松调节和内置保留相关. 这种L1上调可能会损害与ASD相关的基因表达,有助于治疗对象分层.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,遗传基础不明.
对外围和死后脑组织的转录组分析已经确定了ASD中的分子表型.
包括L1s在内的可转移元素 (TE) 被转录,可能在脑疾病中发挥作用.

研究的目的:

研究可移植L1元素在ASD遗传病因中的作用.
分析死后大脑,细胞培养和自闭症患者血液样本中的基因表达.
评估放松L1s对ASD相关基因转录的影响.

主要方法:

利用来自死后ASD大脑的RNA-seq数据,用基因淘汰的体外细胞培养,以及不一致的兄弟姐妹的血液.
测量了全长可转换的L1元素的表达水平.
描述了放松L1s的基因组位置,并分析了它们对ASD相关基因的影响,独立地检查样本.

主要成果:

在死后大脑样本和体外神经元的子集中检测到内部全长L1s的显著上调.
观察到L1上调,增加放松调节的基因和内部保留之间的相关性.
确定了L1s与下调的ASD相关基因重叠的情况,这表明了负面的调节效应.

结论:

在ASD中L1上调是特定于具有更广泛基因表达放松调节的个体子集的.
L1上调可能通过未知的机制直接影响ASD相关基因的表达.
L1上调可以作为一个生物标志物来对ASD受试者进行分层,用于针对性的治疗干预.

关键词:

自闭症自闭症自闭症 L1 逆转移子表达式的表达方式文字转录学 (Transcriptomics) 是一个学科.

更多相关视频

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR

Published on: July 27, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

相关概念视频

Non-LTR Retrotransposons

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...

LTR Retrotransposons

LTR Retrotransposons

LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...