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相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
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Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Position-effect Variegation02:32

Position-effect Variegation

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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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Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
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相关实验视频

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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分子和细胞环境影响SCN8A变体的功能

Carlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser

    bioRxiv : the preprint server for biology
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    概括
    此摘要是机器生成的。

    研究神经发育障碍中的SCN8A变体显示,替代拼接显著影响道功能. 了解这种背景对于准确的变种分类和疾病关联至关重要.

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    科学领域:

    • 神经科学是一个神经科学.
    • 分子生物学分子生物学
    • 遗传学 遗传学 是一个

    背景情况:

    • 编码NaV1.6通道的SCN8A中的致病变体与神经发育障碍,如性脑病变有关.
    • 以前对SCN8A变异的功能研究可能会通过使用新生儿拼接变异或需要工程 TTX 耐药突变来限制.

    研究的目的:

    • 研究SCN8A替代拼接对疾病相关变异的功能属性的影响.
    • 为了比较两个发育调节的NaV1.6拼接异型 (NaV1.6N和NaV1.6A) 的变异性功能.

    主要方法:

    • 使用自动化补丁记录用于高通量分析.
    • 开发了一种具有低内源电流的新型神经元细胞系 (ND7/LoNav),以避免TTX抗性突变.
    • 在ND7/LoNav细胞系内的NaV1.6N和NaV1.6A异型中表达了15种SCN8A变异.

    主要成果:

    • 在NaV1.6N和NaV1.6A异型之间观察到激活和非激活的电压依赖的显著差异.
    • 两种异构体的TTX耐药版本与野生类型通道相比,显示出不同的功能配置文件.
    • 许多SCN8A变体表现出依赖异形的功能效应,其中一些表现出模两可的功能增益或丧失特性.

    结论:

    • SCN8A替代拼接极大地影响了致病变体的功能后果.
    • 分子和细胞环境对于准确解释SCN8A变体的功能至关重要.
    • 这项研究强调了在评估神经发育障碍中的SCN8A变异时需要考虑拼接异型表达的必要性.