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相关概念视频

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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Translesion DNA Polymerases02:10

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Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...
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Proofreading01:31

Proofreading

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Synthesis of new DNA molecules is carried out by the enzyme DNA polymerase, which adds nucleotides on the daughter strand complementary to the template DNA strand. DNA polymerase has a higher affinity to add the correct base and ensures fidelity during DNA replication. Furthermore,  it exhibits proofreading activity during replication, using an exonuclease domain that cuts off incorrect nucleotides from the nascent DNA strand.
Errors During Replication are Corrected by the DNA Polymerase...
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Nonsense-mediated mRNA Decay02:27

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Unlike eukaryotes, bacteria use a single RNA Polymerase (RNAP) to transcribe all genes. The different subunits of bacterial RNAPhave distinct functions. The multisubunit structure of the bacterial RNAP helps the enzyme to maintain catalytic function, facilitate assembly, interact with DNA and RNA, and self-regulate its activity.
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Comparing Copy Number Variations and SNPs02:26

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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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在dNTP选择子域中,SNP相关的氨基酸残留替代物降低了聚β聚合酶活性.

Olga A Kladova1, Timofey E Tyugashev1, Aleksandr A Miroshnikov2

  • 1Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.

Biomolecules
|May 24, 2024
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概括

在DNA聚合酶β (Polβ) 基因中的单核酸多态性可以改变其功能. 变种G274R,G290C和R333W显示活动减少,可能增加未修复的DNA损伤.

关键词:
在DNA聚合酶ββ的过程中,修复DNA的修复DNA的修复酶活性的酶活性.一个核酸的多态性.

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科学领域:

  • 分子生物学分子生物学
  • 遗传学 遗传学 是一个
  • 生物化学 生物化学

背景情况:

  • DNA聚合酶β (Polβ) 对于基因组稳定性和基因切除修复 (BER) 是至关重要的.
  • 在POLB基因中的单核酸多态 (SNPs) 可以导致Polβ酶性质的改变,并与癌症有关.
  • 特定的氨基酸位置 (Gly-274,Gly-290,Arg-333) 与Polβ功能有关,并在瘤中观察到.

研究的目的:

  • 为了研究自然发生的多态变体G274R,G290C和R333W的DNA聚合酶β的功能影响.
  • 阐明这些特定的氨基酸替代如何影响Polβ的酶活性,DNA结合和聚合效率.

主要方法:

  • 进行了动态分析,以量化Polβ变体的酶活性.
  • 用分子动力学模拟来检查由氨基酸替代引起的结构和动态变化.
  • 进行了空隙填充,原料延长和脱氧核酸三酸结合的测试.

主要成果:

  • 这三种多态变体 (G274R,G290C,R333W) 都表现出降低的聚合酶活性.
  • 替代的G274R和R333W显著削弱了空隙填充和原料延伸能力.
  • 这些变异表明脱氧核酸三酸盐结合亲和力降低,聚合常数较低,与局部蛋白质结构的改变有关.

结论:

  • 研究的Polβ变体 (G274R,G290C,R333W) 具有减少的酶功能.
  • 这些功能性缺陷表明,在未经修复的DNA损伤的积累中可能发挥作用.
  • 这些发现强调了特定的Polβ残留物在维护基因组完整性方面的重要性及其对疾病的影响.