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相关概念视频

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Comparing Copy Number Variations and SNPs

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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相关实验视频

Updated: May 10, 2026

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
11:31

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Published on: April 2, 2016

在小鼠基因组结构变异的基于序列的表征.

Binnaz Yalcin1, Kim Wong, Avigail Agam

  • 1The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.

Nature
|September 17, 2011
PubMed
概括

结构变异 (SVs) 在小鼠基因组中很常见,反转移子插入是主要原因. 尽管SVs繁多,但它们很少影响基因表达或表型,尽管有些人会破坏基因功能,特别是在免疫学中.

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科学领域:

  • 基因组学就是基因组学.
  • 哺乳动物遗传学 哺乳动物遗传学
  • 分子生物学分子生物学

背景情况:

  • 结构变异 (SVs) 在哺乳动物基因组中普遍存在,并与疾病有关.
  • SVs对表型变异的丰度,起源和功能影响尚未完全理解.

研究的目的:

  • 为了全面识别和表征内生小鼠菌株中的结构变异.
  • 研究结构变异的原因和功能后果.

主要方法:

  • 结合实验和自动化分析,在13种古典和4种野生来源的杂交小鼠菌株中识别SV.
  • 将 SV 断点映射到基对分辨率上.
  • 分析了SVs对基因表达和表型变异的影响.

主要成果:

  • 在小鼠基因组中的281,243个位点确定了711,920个SV.
  • 大多数VS是小的 (<1kb),其中98%是删除或插入.
  • 逆转移子插入占识别的SVs的一半以上.
  • 与其他序列变异相比,SVs影响基因表达或定量特征的可能性较小.
  • 确定了24种破坏编码外子的SVs,其中三分之一影响免疫基因.

结论:

  • 在小鼠基因组中,结构变异很丰富,主要是由逆转移子活性驱动的.
  • 尽管SV的流行率很高,但与其他变异相比,SV对基因表达和表型的影响有限.
  • 罕见的,大效应的SVs可以显著破坏基因功能,特别是影响免疫路径.