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相关概念视频

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.0K
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Author Spotlight: Modeling Brain Tumors In Vivo Using Electroporation-Based Delivery of Plasmid DNA Representing Patient Mutation Signatures
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环境代理人的突变特征汇编

Jill E Kucab1, Xueqing Zou2, Sandro Morganella3

  • 1Department of Analytical, Environmental and Forensic Sciences, MRC-PHE Centre for Environment and Health, King's College London, 150 Stamford Street, London SE1 9NH, UK.

Cell
|April 16, 2019
PubMed
概括

环境致癌物会在人体干细胞中引起不同的DNA突变模式. 这项研究确定了特定的突变特征,揭示了细胞修复机制以及人类DNA对环境因素的直接脆弱性.

关键词:
发生DNA损伤突变特征致癌物质环境变异原体突变发生

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科学领域:

  • 基因组学
  • 环境健康
  • 癌症研究

背景情况:

  • 人体瘤的全基因组测序 (WGS) 揭示了与癌症起源相关的突变模式.
  • 了解环境暴露对于识别致癌物质至关重要.

研究的目的:

  • 研究暴露于环境致癌物质的人类干细胞的突变特征.
  • 描述涉及突变原体引起损伤的DNA修复途径.

主要方法:

  • 324个人类诱导的多能干细胞系的全基因组测序 (WGS).
  • 干细胞暴露于79种已知或可疑的环境致癌物.
  • 对突变特征的分析,包括替代,双替代和插入/删除 (indels).

主要成果:

  • 41种致癌物引起了特征性的替代突变特征, 其中一些反映了人类瘤的特征.
  • 六个代理商产生了双替代签名,八个代理商产生了独立签名.
  • 突变不对称分析证实了功能不匹配和转录合的DNA修复途径.

结论:

  • 环境变异原体通过各种修复途径诱导人体干细胞中的多种突变特征.
  • 这本摘要有助于探索癌症病因的环境因素.
  • 人类干细胞DNA直接受到环境因素的影响.