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相关概念视频

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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Mutations01:39

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Overview
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Mismatch Repair01:20

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Export of Mitochondrial and Chloroplast Genes02:19

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A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
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Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
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替代性起始密码子选择在进化,恒常状态和疾病期间塑造线粒体功能.

Jimmy Ly1,2, Yi Fei Tao1,2, Matteo Di Bernardo1,2

  • 1Whitehead Institute for Biomedical Research, Cambridge, United States.

bioRxiv : the preprint server for biology
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概括

具有双定位的线粒体蛋白质异型对真核生物的进化和功能至关重要. 这些异构体因罕见疾病突变的失调解释了独特的临床表现,揭示了线粒体生物学的洞察力.

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科学领域:

  • 进化生物学是进化的生物学.
  • 细胞生物学 细胞生物学
  • 遗传学 是一个遗传学.

背景情况:

  • 线粒体内共生是真核生物进化的关键事件.
  • 核心蛋白质需要适应宿主细胞和线粒体的双重功能.
  • 替代起始密码子选择产生具有不同局部性的蛋白质异型.

研究的目的:

  • 系统地描述由交替起始密码子选择产生的蛋白质异型的局部化.
  • 为了研究双局部化的线粒体蛋白质异型体的进化和病理意义.
  • 了解维持双局部化异型生成的机制及其在罕见疾病中的作用.

主要方法:

  • 采用替代起始密码子选择对蛋白质异形局部化的系统分析.
  • 对双局部化异构体的进化出现的分析.
  • 研究诸如泄漏性核糖体扫描和替代转录等机制.
  • 在罕见疾病患者突变中鉴定异型失调.

主要成果:

  • 鉴定了数百种不同局部化的蛋白质异构体,影响了线粒体的向和功能.
  • 双局部化的线粒体异型的出现与早期的真核生物进化有关.
  • 确定了维护双局部化异形生产的多种机制.
  • 发现特定的异构体因罕见疾病突变而失调,解释了临床表现.

结论:

  • 替代翻译启动和双局部化蛋白质异型是进化保守的,对线粒体功能至关重要.
  • 产生双局部化异构体的机制在真核生物中是多样化的.
  • 影响这些异构体的突变提供了对罕见疾病病原和临床变异性的见解.
  • 这项研究提供了对线粒体生物学和替代翻译在进化和疾病中的作用的更深入的理解.