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相关概念视频

Alternative RNA Splicing02:18

Alternative RNA Splicing

24.7K
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...
24.7K
Alternative RNA Splicing02:18

Alternative RNA Splicing

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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...
60.4K
Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
4.1K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

7.8K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
7.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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相关实验视频

Updated: Jan 18, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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在人类疾病局部中异常复发性拼接.

Philip M Boone, Ricardo Harripaul, Rachita Yadav

    bioRxiv : the preprint server for biology
    |September 8, 2025
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    概括

    递归拼接 (RS) 是CADM2基因中的一个调节机制. 切除一个关键的RS位点 (RS1) 影响基因表达和神经元发育,将其与神经行为特征和ADHD风险联系起来.

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    A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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    科学领域:

    • 遗传学 遗传学是一种遗传学.
    • 神经科学是一个神经科学.
    • 分子生物学分子生物学

    背景情况:

    • 递归拼接 (RS) 位点是罕见的动机,可以促进大型内子的拼接,并影响异型多样性,特别是在大脑表达的基因中.
    • RS在人类疾病中的作用及其作为调节机制的必要性在很大程度上仍未被描述.
    • 之前的分析发现了CADM2基因的第一个内核中的缺失,其中包含一个递归拼接位 (RS1),与注意力缺陷多动症障碍 (ADHD) 和其他神经行为特征的风险增加有关.

    研究的目的:

    • 研究在CADM2基因中切除RS1位点的分子后果.
    • 探索RS在调节CADM2表达中的功能作用及其对神经元发育和行为的影响.

    主要方法:

    • 在人类诱导神经元 (iN) 和大鼠中利用CRISPR基因编辑来建模患者衍生RS1位点的删除CADM2.
    • 进行转录组分析以对CADM2转录进行分类,并评估基因表达和拼接模式的变化.
    • 在具有RS1缺失的动物模型中评估了行为和功能性大脑连接的变化.

    主要成果:

    • 在CADM2中切除RS1位点改变了RNA丰度梯度,降低了整体CADM2表达,并影响了转录使用.
    • 减少CADM2表达与下游外子使用的减少以及参与突触和轴突发育的基因的全球变化相关.
    • 具有RS1删除的动物模型显示出显著的行为变化和改变的功能性大脑连接.

    结论:

    • 递归拼接 (RS) 作为一种影响CADM2表达的非编码调节机制.
    • 在CADM2中RS的干扰会影响神经元发育,并与包括ADHD在内的神经精神和行为特征的频谱有关.
    • 这些发现凸显了RS在基因调节中的功能意义及其在人类神经发育障碍中的潜在作用.