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相关概念视频

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

15.8K
Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
15.8K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

11.6K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.6K
Transposons01:24

Transposons

60
Transposons, or "jumping genes," are small mobile genetic elements (MGEs) that range from 700 to 40,000 base pairs in length. They are found in all organisms and can move within the same chromosome or transfer to different chromosomes. In some cases, transposons can also jump between different host DNA molecules, such as plasmids or viruses, contributing to genetic variability.Barbara McClintock first discovered these mobile genetic elements in the 1940s while studying maize genetics, and she...
60
DNA-only Transposons02:57

DNA-only Transposons

14.6K
DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
14.6K
LTR Retrotransposons03:08

LTR Retrotransposons

17.6K
LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
17.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.8K
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%...
17.8K

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相关实验视频

Updated: Jul 21, 2025

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity

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在1000名瑞典个体中进行了可转移元素插入.

Kristine Bilgrav Saether1,2, Daniel Nilsson1,2,3, Håkan Thonberg1,3

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

PloS one
|July 28, 2023
PubMed
概括
此摘要是机器生成的。

可移植元素 (TE) 是理解罕见遗传疾病的关键. 鉴定TE插入的特征通过识别患者中以前未知的致病变体来改善罕见疾病的诊断.

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Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach
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Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach

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Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
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Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

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相关实验视频

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Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
04:04

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity

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Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach
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Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach

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Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
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科学领域:

  • 基因组学就是基因组学.
  • 人类遗传学 人类遗传学
  • 分子生物学分子生物学

背景情况:

  • 大多数罕见疾病都有遗传起源,但尽管有先进的基因组测序,但60%的患者仍未被诊断出来.
  • 关于可移植元素 (TE) 的功能和分布存在重大知识差距,可移植元素 (TE) 占人类基因组的50%.
  • 了解TE对于改善罕见疾病调查的诊断产量至关重要.

研究的目的:

  • 在不同种群中描述可移植元素插入的特征.
  • 建立特定人群的TE插入数据库.
  • 通过结合TE分析,提高临床基因组测序对罕见疾病的诊断效用.

主要方法:

  • 在1000名瑞典个人 (SweGen) 和2504名个人 (1000个基因组项目) 中 TE插入的表征.
  • 创建七个特定的人口的TE插入数据库.
  • 为临床病例开发和应用TE插入识别工作流程.

主要成果:

  • 发现TE插入在种群中大致保持不变,在1000个基因组项目数据库中存在66%的SweGen插入.
  • 发现了罕见的TE插入,约有0.7%影响蛋白质编码基因,少于0.1%影响已知的致病基因.
  • 在TE插入识别工作流中,在两个临床罕见疾病病例中成功验证了致病性TE插入.

结论:

  • 可移植元件插入检测对于推进罕见疾病诊断至关重要.
  • 开发的TE插入数据库和工作流程可以显著提高临床基因组测序中的诊断产量.
  • 这项研究强调了TE在诊断罕见遗传疾病方面的临床影响.