Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
Improving Translational Accuracy02:07

Improving Translational Accuracy

Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
Comparing Copy Number Variations and SNPs02:26

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Improving Translational Accuracy02:07

Improving Translational Accuracy

Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

De novo variants in MAGED1 suggest a role in intellectual disability pathogenesis.

Neurobiology of disease·2026
Same author

Identification of somatostatin<sup>+</sup> inhibitory engrams for extinction in the basolateral amygdala.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

DeepGene-BC: Deep Learning-Based Breast Cancer Subtype Prediction via Somatic Point Mutation Profiles.

Cancers·2026
Same author

Transcriptomic and lipidomic analysis provide insights into ovarian development of the mud crab Scylla paramamosain under high-temperature and strong illumination conditions.

Developmental and comparative immunology·2025
Same author

Intelligent Gait Analysis System Enabled by Liquid Metal-Embedded Sponge Triboelectric Sensor Arrays.

ACS applied materials & interfaces·2025
Same author

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

The Journal of clinical investigation·2025
Same journal

Sub1 contributes to heart failure with preserved ejection fraction driven by aging in mice.

Nature communications·2026
Same journal

The BRCA1-A complex restricts replication fork reversal-dependent DNA repair in ATM deficient cells.

Nature communications·2026
Same journal

Signaling downstream of tumor-stroma interaction regulates mucinous colorectal adenocarcinoma apicobasal polarity.

Nature communications·2026
Same journal

Click-polymerized polyenamine membranes for efficient lithium extraction.

Nature communications·2026
Same journal

Joint trajectories of brain atrophy, white matter hyperintensities and cognition quantify brain maintenance.

Nature communications·2026
Same journal

Proton shuttling at electrochemical interfaces under alkaline hydrogen evolution.

Nature communications·2026
查看所有相关文章

相关实验视频

Updated: May 24, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

12.9K

解码错误的变体通过整合阶段分离通过机器学习解码错误的变体.

Mofan Feng1,2, Xiaoxi Wei1, Xi Zheng1,2

  • 1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Shanghai Jiao Tong University, Shanghai, China.

Nature communications
|September 27, 2024
PubMed
概括
此摘要是机器生成的。

我们开发了PSMutPred,这是一种机器学习工具,可以预测误解突变如何影响蛋白质相分离,有助于解释内在无序区域 (IDR) 中不确定的意义 (VUS) 的变异. 这有助于我们更好地理解疾病的发病因子.

更多相关视频

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

相关实验视频

Last Updated: May 24, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

12.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

科学领域:

  • 生物化学和分子生物学
  • 计算生物学 计算生物学
  • 遗传学 遗传学 是一个

背景情况:

  • 预测蛋白质变异的功能影响至关重要,但具有挑战性,特别是在内在无序区域 (IDR) 的不确定的意义 (VUS) 的变异方面.
  • 本质上混乱的区域涉及到许多生理过程,它们的功能障碍与各种疾病有关.
  • 阶段分离是许多细胞功能的核心过程,与IDR密切相关.

研究的目的:

  • 开发一种计算方法来预测误解突变对蛋白质相位分离的影响.
  • 改进位于内在无序区域 (IDR) 的不确定的意义变异 (VUS) 的解释.
  • 帮助了解疾病相关变异的致病性.

主要方法:

  • 开发了PSMutPred,这是一个机器学习模型,利用误解变量来改变相位分离倾向.
  • 整合相位分离原理用于IDR中误解变体的分析.
  • 通过体外实验验验证了PSMutPred预测.

主要成果:

  • PSMutPred在预测影响自然相隔的误解变异方面表现强.
  • 该模型成功预测了突变对相位分离倾向的影响.
  • 在体外实验证实了PSMutPred.的预测准确性.

结论:

  • PSMutPred 显著有助于解码疾病变异的发病因子,特别是 IDR 中的变异.
  • 该方法有助于解释IDR中的大量VUS,加速临床诊断.
  • 这项工作强调了分相对于理解变异效应和疾病机制的重要性.