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相关概念视频

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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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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Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

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Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
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DNA-only Transposons02:57

DNA-only Transposons

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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.
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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...
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Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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What is Genetic Engineering?00:49

What is Genetic Engineering?

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Overview
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相关实验视频

Updated: Sep 15, 2025

Dissection of Enhancer Function Using Multiplex CRISPR-based Enhancer Interference in Cell Lines
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增强剂聚合可通过非编码变异激活致病基因.

Ethan W Hollingsworth, Zhuoxin Chen, Cindy X Chen

    bioRxiv : the preprint server for biology
    |July 16, 2025
    PubMed
    概括

    非编码DNA增强剂中的平衡色素使基因对异常激活敏感,导致遗传疾病. 这项研究揭示了增强剂毒性作为一种关键机制,它是功能获取突变和疾病易感性的基础.

    科学领域:

    • 遗传学 遗传学是一种遗传学.
    • 发展生物学 发展生物学
    • 分子生物学分子生物学

    背景情况:

    • 增强剂中的单核酸变异,即调节转录的非编码DNA元素,可以通过异常基因激活引起遗传疾病.
    • 通过功能增强器突变驱动子宫外基因激活的精确机制尚未完全理解.

    研究的目的:

    • 调查增强剂中毒在通过功能增益突变调解异常基因激活中的作用.
    • 阐明增强剂变体导致遗传疾病的机制,如多节节.

    主要方法:

    • 在小鼠中使用Sonic hedgehog (Shh) 的ZRS增强器作为模型系统.
    • 分析了与增强剂活性相关的染色质可访问性和基因素修饰.
    • 研究了致残的先驱转录因子结合对增强器功能和肢体发育的影响.
    • 检查了其他与疾病相关的增强剂以及预测/验证的增强剂活性 in silico 和 in vivo.

    主要成果:

    • 证明ZRS中的平衡色素使Shh对前肢芽的异常激活敏感,从而导致多肢动.
    • 显示,通过利用这种平衡状态,超过20种独立的ZRS变体会导致Shh表达错误和四肢形.
    • 禁用与ZRS结合的先驱转录因子可以防止异常激活,并挽救四肢形.

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  • 确定增强剂中毒是疾病相关增强剂的共同特征,并预测自闭症相关变体的新增增强剂活动.
  • 结论:

    • 空间增强器中毒产生对非编码突变的易感性,为遗传性疾病提供了机制性的解释.
    • 增强剂中毒是功能获取非编码变体的致病性的一个关键因素.
    • 这种机制为各种遗传疾病的病因提供了洞察力,包括四肢形和自闭症.