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相关概念视频

Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genetic Lingo01:11

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Overview
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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Position-effect Variegation02:32

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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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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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相关实验视频

Updated: Jun 14, 2025

An Ecdysone Receptor-based Singular Gene Switch for Deliberate Expression of Transgene with Robustness, Reversibility, and Negligible Leakiness
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An Ecdysone Receptor-based Singular Gene Switch for Deliberate Expression of Transgene with Robustness, Reversibility, and Negligible Leakiness

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切换式基因表达调节疾病易感性

Alber Aqil1, Yanyan Li2, Zhiliang Wang2

  • 1Department of Biological Sciences, State University of New York at Buffalo, Buffalo, NY, USA.

bioRxiv : the preprint server for biology
|September 4, 2024
PubMed
概括

研究人员在27个组织中确定了1013个类似开关的基因,揭示了与胃癌和阴道缩等疾病相关的组织特异性模式. 这些发现突显了基因表达的重要意义.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

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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
  • 系统生物学 系统生物学

背景情况:

  • 了解疾病倾向需要了解基因表达机制.
  • 以前的研究表明,类似切换的基因表达会影响生物变异和疾病易感性.
  • 缺少一个全面的,多组织分析的交换式基因表达.

研究的目的:

  • 在多个人体组织中系统地识别和表征类似开关的基因.
  • 研究组织特异性切换式基因表达的遗传和监管基础.
  • 探索切换式基因表达模式与特定疾病的关联.

主要方法:

  • 分析了来自27个不同的组织的943个个体的转录组.
  • 通过计算分析识别了1013个类似开关的基因.
  • 研究了影响基因表达的遗传变异和调控因素 (例如,荷尔蒙信号).
  • 对阴道组织进行实验分析,以验证与雌激素和基因表达相关的发现.

主要成果:

  • 确定了1013个类似切换的基因,其中只有31个 (3.1%) 显示普遍的组织行为.
  • 发现了特定于组织的切换型基因,这些基因通常由主调节器和荷尔蒙信号共同调节.
  • 发现了数百个一致关闭的基因与胃癌和阴道缩有关.
  • 证明低雌激素水平降低了表皮质厚度和阴道组织中的ALOX12表达.

结论:

  • 交换式基因表达是一种重要的,通常是组织特异的现象,具有广泛的生物医学含义.
  • 一个拟议的模型通过关闭的驱动基因将抑制的细胞增殖与阴道缩联系起来.
  • 这些发现为开发针对基因表达的新型诊断和治疗策略提供了基础.