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相关概念视频

RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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MicroRNAs01:22

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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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相关实验视频

Updated: Sep 9, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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与剪接调节相关的LncRNA遗传变异及其对卵巢癌发展的影响

Lingxiao Zou1, Meng Zhang2, Shan He1

  • 1Department of Biomedical Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, 211106, China.

Functional & integrative genomics
|September 2, 2025
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概括
此摘要是机器生成的。

这项研究揭示了非编码RNA拼接定量特征位点 (lncRNA sQTL) 通过改变基因拼接如何影响卵巢癌 (OC) 风险. 这些发现为早期OC检测和治疗提供了潜在的新生物标志物.

关键词:
替代拼接长非编码RNA卵巢癌拼接数量特征位点

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科学领域:

  • 基因组学
  • 癌症生物学
  • 分子遗传学

背景情况:

  • 尽管长非编码RNAs (lncRNAs) 在癌症中具有已知的调节作用,但卵巢癌 (OC) 缺乏有效的早期检测生物标志物.
  • 在癌症中,RNA拼接的失调是常见的,拼接调节者的遗传变异可以影响疾病的发展.

研究的目的:

  • 在OC中全面分析 lncRNA 拼接定量特征位点 (sQTL).
  • 在OC中研究 lncRNA sQTL 的调控机制和功能影响.
  • 识别潜在的基于 lncRNA 的生物标志物.

主要方法:

  • 对202个OC样本进行分析,以在事件和转录水平上确定21,129个lncRNAsQTL.
  • 对 lncRNA sQTL 与 lncRNA 表达量特征位点 (eQTL) 的比较.
  • 在调节元件中对sQTL进行丰富分析,并构建lncRNA-splicing factor-mRNA调节网络.
  • 与全基因组关联研究 (GWAS) 数据的整合,以将特定的sQTL与OC风险联系起来.

主要成果:

  • lncRNA sQTL 与 lncRNA eQTL 不同,受调节的基因参与癌症途径,免疫透和药物敏感性.
  • lncRNA sQTL 富含调节元件,包括拼接因子 (SF) 的结合位.
  • 发现一种特定的lncRNAsQTL (rs1549334) 改变了HOXD3基因拼接,影响了OC风险.

结论:

  • lncRNA sQTLs通过改变的基因拼接在OC病变中发挥着重要作用.
  • 这些发现为OC的拼接监管提供了新的见解.
  • lncRNAsQTLs是早期OC检测和治疗点的有希望的候选者.