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相关概念视频

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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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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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.9K
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.1K
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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相关实验视频

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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大规模并行方法用于表征人类进化中的非编码功能变异.

Stephen Rong1, Elise Root1, Steven K Reilly2

  • 1Department of Genetics, Yale University, New Haven, CT, USA.

Current opinion in genetics & development
|September 1, 2024
PubMed
概括
此摘要是机器生成的。

科学家们正在发现使人类独一无二的遗传差异,并推动全球适应. 新的高通量方法分析非编码DNA,如cis-regulatory elements (CREs),以了解它们对人类进化的功能影响.

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科学领域:

  • 基因组学就是基因组学.
  • 人类进化人类进化
  • 分子生物学分子生物学

背景情况:

  • 人类和灵长类动物之间的遗传差异以及人类群体之间的遗传差异尚未得到充分理解.
  • 非编码DNA,特别是 cis-regulatory elements (CREs),在表型变异中起着至关重要的作用,但对研究具有挑战性.
  • 了解CREs是解释人类独特性和全球适应性的关键.

研究的目的:

  • 审查最新的高通量技术,以评估CRE功能和其中遗传变异的影响.
  • 要突出这些方法是如何推进人类进化中非编码变异的研究.

主要方法:

  • 通过CRISPR选来扰乱CREs,并观察基因表达和表型的下游影响.
  • 大规模并行报告测试 (MPRAs) 用于确定DNA序列变异的监管影响.
  • 机器学习算法可以从DNA序列直接预测CRE函数.

主要成果:

  • 这些高通量方法使CREs及其变体的大规模功能表征成为可能.
  • 克里斯普尔屏幕,MPRA和机器学习显著提高了将非编码变异与表型联系起来的能力.
  • 这些工具在不同环境中的应用正在彻底改变人类进化的研究.

结论:

  • 最近的技术进步提供了强大的工具来剖析CREs和非编码变异的功能作用.
  • 这些方法对于理解人类独特性,适应性和进化的遗传基础至关重要.
  • 从这些方法中整合各种数据将加速人类基因组学和进化生物学方面的发现.