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相关概念视频

Genetic Lingo01:11

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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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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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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
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交换式基因表达调节疾病风险.

Alber Aqil1, Yanyan Li2, Zhiliang Wang2

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

Nature communications
|June 18, 2025
PubMed
概括
此摘要是机器生成的。

切换式基因表达,即基因在个体中"开启"或"关闭",与疾病有关. 这项研究在27个组织中确定了473个这样的基因,揭示了它们在各种疾病中的作用.

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科学领域:

  • 基因组学和系统生物学
  • 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
  • 人类疾病遗传学 人类疾病遗传学

背景情况:

  • 在生物变异和疾病易感性中观察到类似切换的基因表达模式.
  • 目前还没有对这些类似开关的基因及其调节机制进行全面的多组织分析.

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.
  • 调查切换式基因表达的遗传和表观遗传基础.
  • 探索切换型基因与人类疾病和特定疾病 (如阴道缩) 的关联.

主要方法:

  • 对来自27个组织的943个个体的基因组,转录组和甲基组数据的分析.
  • 使用计算方法识别类似开关基因.
  • 甲基化分析以推断调节机制 (遗传与激素).
  • 在阴道组织中进行实验验证,以在特定条件下研究基因功能.

主要成果:

  • 确定了473个类似开关的基因,富含与癌症,免疫,代谢和皮肤疾病的关联.
  • 发现只有很小一部分 (8.5%) 的切换型基因表现出普遍的切换型表达;大多数是特定于组织的.
  • 发现了基因驱动的普遍模式中的表观遗传沉默和组织特定模式中的激素驱动的修改的证据.
  • 鉴定了与阴道缩相关的阴道组织中的七个一致关闭的基因,与低雌激素水平和抑制细胞增殖有关.

结论:

  • 交换机样基因在人类健康和疾病中发挥着重要作用,具有多种不同的调节机制.
  • 组织特异性的切换式基因表达通常由主调节器协调,并受到激素的影响.
  • 了解这些基因为新型诊断和个性化治疗策略提供了潜力,正如阴道缩的研究结果所示.