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相关概念视频

Pleiotropy01:33

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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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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
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相关实验视频

Updated: Jul 21, 2025

Assessing Functional Performance in the Mdx Mouse Model
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在FLExDUX4小鼠中的分子和表型变化

Kelly Murphy1, Aiping Zhang2, Adam J Bittel2

  • 1Institute for Biomedical Sciences, The George Washington University, Washington, DC 20037, USA.

Journal of personalized medicine
|July 29, 2023
PubMed
概括

面骨肌缩症 (FSHD) 研究表明,FLExDUX4小鼠模型表现出与低水平的DUX4基因表达相关的渐进性肌肉病理,男性出现更早,更严重的症状.

关键词:
DUX4X4 的使用情况这就是FLEXDUX4的原因.这是FSHD的FSHD.在TDP-43中使用.消极症是一种消极症,消极症是消极症.该设施的头皮和部骨架是一般的.肌肉 肌肉 肌肉 肌肉 肌肉肌肉 肌肉 肌肉 肌肉

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相关实验视频

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科学领域:

  • 遗传学和分子生物学
  • 神经肌肉疾病 神经肌肉疾病
  • 疾病的动物模型.

背景情况:

  • 面骨肌肉发育不良 (FSHD) 是一种遗传性疾病,其特征是肌肉逐渐衰弱.
  • 双同源盒4 (DUX4) 基因的异常表达是FSHD的已知原因.
  • 在FLExDUX4小鼠模型中,有一个具有低水平表达的DUX4转基因,模仿FSHD的各个方面.

研究的目的:

  • 在FLExDUX4小鼠模型中对长度表型进行表征,小鼠年龄在1岁以下.
  • 用RNA测序来研究肌肉组织早期的转录基因变化.
  • 评估持续低水平的DUX4表达对肌肉健康和功能的影响.

主要方法:

  • 长度监测FLExDUX4小鼠,年龄在12个月以下.
  • 评估身体重量,肌肉重量和握力.
  • 组织病理学检查肌肉组织,包括肌纤维类型和总体检测.
  • 来自2个月大的小鼠肌肉组织的RNA测序,以分析基因表达模式.

主要成果:

  • 与雌性相比,雄性FLExDUX4小鼠在较年轻的年龄表现出更严重的表型 (较低的身体/肌肉重量,较低的握力).
  • 肌肉病理,包括纤维化,肌纤维尺寸减小 (IIa/IIx型) 和TDP-43聚合物 (IIb型),在老老鼠中出现.
  • 转录组分析揭示了与昼夜节律和脂肪生成相关的途径的早期分子变化.

结论:

  • 鼠标模型FLExDUX4显示了与FSHD相一致的分子和肌肉表型的缓慢,渐进的发展.
  • 低水平的DUX4表达驱动着逐渐的病理变化,在疾病严重程度和发病方面存在性别差异.
  • 早期的分子路径改变表明FSHD干预的潜在治疗点.