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Updated: May 12, 2026

11:52
Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
Published on: April 23, 2016
L1レトロトランポゾンによる転写障害と哺乳類の転写体への影響
Jeffrey S Han1, Suzanne T Szak, Jef D Boeke
1Department of Molecular Biology and Genetics and High Throughput Biology Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Nature
|May 21, 2004
まとめ
LINE-1 (L1) レトロトランポゾンは,トランスクリプションの延長を阻害することによって,自身の発現を妨げます. このメカニズムは,L1要素が分子レオスタットとして作用し,全ゲノムにわたる遺伝子発現を調節することを示唆しています.
科学分野:
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
- 人間の遺伝学 人間の遺伝学
背景:
- LINE-1 (L1) 要素は,人間のDNAの17%を占める豊富なレトロトランポゾンである.
- L1レトロトランポゾンは,ORF1とORF2のタンパク質をコードし,その機能に不可欠です.
- 哺乳類の細胞でL1RNAとORF2タンパク質を検出することは,過剰発現であっても困難です.
研究 の 目的:
- 哺乳類の細胞におけるL1要素の低い発現の背後にある理由を調査する.
- RNAおよびタンパク質発現に対するL1配列の影響を決定する.
- 遺伝子発現におけるL1要素の潜在的ゲノム全体の規制的役割を調査する.
主な方法:
- 表現レベルを評価するために,トランスクリプトにL1配列を挿入する.
- 転写開始率とRNAの安定性の分析.
- L1の全ゲノム効果を評価するためのバイオ情報分析.
主要な成果:
- L1配列を挿入すると,RNAとタンパク質の発現が著しく低下しました.
- 発現の減少は,主に転写の延長障害によるもので,イニシアーションや安定性によるものではありません.
- 生物情報学的データは,遺伝子発現の調節におけるL1の役割を支持した.
結論:
- L1要素は,阻害された転写延長により表現が不良である.
- L1要素は"分子リオスタット"として機能し,全ゲノムにわたる内生遺伝子発現を調節する.
- L1要素は,ヒトのトランスクリプトームの進化的微調整剤として機能する可能性がある.
関連する概念動画
Overview of Transposition and Recombination
Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
DNA-only Transposons
DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
The donor site from where the transposon is excised is either degraded or...
Retroviruses
Retroviruses and retrotransposons both insert copies of their genetic elements into the genome of the host cell. Thus, the viral genes are passed on when the host genome is replicated or translated. A typical retroviral DNA sequence contains 3-4 genes that encode the different proteins required for its structural assembly and function as a molecular parasite. This DNA is transcribed into a single mRNA, which is very similar in structure to conventional mRNAs, i.e., it is capped at the 5’...
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...
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
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...
piRNA - Piwi-interacting RNAs
PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...

