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相关概念视频

Eukaryotic Transcription Activators02:42

Eukaryotic Transcription Activators

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Transcription activators are proteins that promote the transcription of genes from DNA to RNA. In most cases, these proteins contain two separate domains ‒ a domain that binds to DNA and a domain for activating transcription; however, in some cases, a single domain is responsible for both binding and activation of transcription, as seen in the glucocorticoid receptor and MyoD.
The binding domains are capable of recognizing and interacting with regulatory sequences on the DNA. These...
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General Transcription Factors01:30

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Exon Recombination02:32

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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. 
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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Combinatorial Gene Control02:33

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Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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相关实验视频

Updated: May 12, 2025

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models
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DUX4激活了常见的和特定于环境的基因间转录和异型.

Dongxu Zheng1, Anita van den Heuvel1, Judit Balog1

  • 1Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.

Science advances
|May 7, 2025
PubMed
概括
此摘要是机器生成的。

DUX4基因的错误表达会导致面额骨骨缩症 (FSHD). 这项研究揭示了DUX4在胚胎和肌肉中的特定环境基因激活,影响了新的遗传基因位点,并推动了FSHD研究.

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High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq
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科学领域:

  • 分子生物学分子生物学
  • 遗传学 遗传学 是一个
  • 发展生物学 发展生物学

背景情况:

  • 在胚胎基因组激活过程中,DUX4蛋白在胚胎早期发育中起着关键作用.
  • 骨肌中DUX4的错误表达是面额骨骨缩症 (FSHD) 的潜在原因.

研究的目的:

  • 调查DUX4受调节的全谱转录,包括新型异构体和基因间区域.
  • 为了比较DUX4在早期胚胎发育中的转录效应与FSHD肌肉背景.
  • 了解细胞环境如何影响DUX4介导的基因调节.

主要方法:

  • 在DUX4-可诱导肌细胞中利用了全长RNA异形测序和短读RNA测序.
  • 分析了异形解析的转录组,以识别未注释的和新的转录.
  • 在DUX4激活的位置检查了转录和表观遗传特征.

主要成果:

  • 从已知的基因位点和新的基因间区域中识别了众多未注释的RNA异型.
  • 尽管保留了激活程序,但在胚胎和FSHD肌肉环境之间观察到不同的DUX4标异型使用.
  • 发现了数百个未注释的基因间基因位点的DUX4激活,主要是重复元素.
  • 证明细胞环境会影响在基因间位置的DUX4结合部位的使用.

结论:

  • DUX4诱导了特定于环境的转录组程序,突出了在各种细胞环境中的差异性基因调节.
  • 这些发现提供了对DUX4在基因调节中的作用及其对facioscapulohumeral发育失调病原体的贡献的更深入的理解.
  • 该研究阐明了新的DUX4目标和调控机制,为FSHD的治疗策略提供了潜在的途径.