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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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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Pre-mRNA Processing: RNA Splicing01:36

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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相关实验视频

Updated: Jun 5, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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在泛固体瘤转录基因组中拼接失调的系统性表征

Jingru Sui1,2,3, Dan Guo1,2, Xiao Wen1,2

  • 1China National Center for Bioinformation, Beijing, 100101, China.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
|December 6, 2024
PubMed
概括

拼接失调在固体瘤中很常见,促进癌症. 这项研究揭示了六种泛癌拼接模式,揭示了跨瘤类型的共同和独特机制.

关键词:
替代性拼接是一种替代性的拼接.数学建模的数学建模胰腺癌是一种癌症.这是一个拼接因子.

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科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 计算生物学 计算生物学

背景情况:

  • 拼接失调,通常来自拼接体突变,驱动疾病和治疗耐药性,特别是在血液癌症.
  • 虽然在固体瘤中不太常见,但拼接障碍是普遍存在的,并有助于瘤发生.
  • 缺乏对实体瘤拼接失调模式的系统理解.

研究的目的:

  • 以计算方式发现泛癌拼接失调景观.
  • 确定拼接因子 (SF) 和替代拼接事件 (ASE) 的联合模块化模式.
  • 在31个人类实体瘤中,对拼接失调模式的全谱进行特征化.

主要方法:

  • 开发一种计算方法,即SMNPLS (分散多网规则化部分最小方程).
  • 从配对的SF表达式和ASE矩阵中提取联合模块化图案.
  • 在40%的TCGA固体瘤中分析拼接失调模式.

主要成果:

  • 确定了6个独特的ASE-SF共同模块模式,涉及1570个ASE和170个SF.
  • 在消化,和泌尿器官瘤中观察到常见的拼接失调模式.
  • 大脑瘤表现出明显的拼接模式,具有高的ASE-SF相关性,并确定了新的潜在瘤性调节关系.

结论:

  • 这项研究描述了固体瘤拼接失调的全谱.
  • 它强调了不同癌症类型的拼接衍生的病原体的相似性和特异性.
  • 结果提供了对拼接驱动的瘤发生和潜在的治疗点的见解.