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

Alternative RNA Splicing02:18

Alternative RNA Splicing

5.4K
5.4K
Alternative RNA Splicing02:18

Alternative RNA Splicing

25.9K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.9K
RNA Splicing01:32

RNA Splicing

19.9K
19.9K
RNA Splicing01:32

RNA Splicing

61.1K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.1K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.4K
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,...
19.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.0K
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%...
19.0K

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

Treatment of trigeminal neuralgia: single-fraction LINAC-based radiosurgery option, mono-institutional experience with long follow-up.

La Radiologia medica·2026
Same author

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

The Journal of clinical investigation·2026
Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026
Same author

The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Francophone de Cytogénétique Hématologique.

Genes, chromosomes & cancer·2026
Same author

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026
Same author

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

NPJ genomic medicine·2026

相关实验视频

Updated: Mar 15, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

14.4K

使用整合性基因组和转录基因组工作流程解决非编码拼接改变变体:应用于FOXP1

Pauline Planté-Bordeneuve1,2,3, Anne-Sophie Jourdain1,2, Caroline Thuillier2

  • 1Univ. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.

Human genomics
|March 14, 2026
PubMed
概括

解释影响RNA拼接的遗传变异是具有挑战性的. 这项研究引入了一种工作流,结合了计算预测,小基因测试和长读RNA测序,以功能性地评估拼接改变变异,帮助临床基因组学.

关键词:
这就是FOXP1P.基因组诊断 基因组诊断长时间读取RNA测序.迷你基因检测法 (Minigene assay) 是一种微型基因检测法.没有编码的变体.通过RNA拼接进行RNA拼接.

更多相关视频

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.5K
In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
08:54

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

7.7K

相关实验视频

Last Updated: Mar 15, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

14.4K
Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.5K
In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
08:54

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

7.7K

科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 神经发育障碍 神经发育障碍

背景情况:

  • 基因组测序经常识别出具有不清楚功能意义的非编码变异,特别是那些影响mRNA前拼接的变异.
  • 对这些变异的准确解释对于诊断遗传疾病至关重要.

研究的目的:

  • 开发和验证一个集成的工作流程,以评估拼接改变的非编码变体的功能影响.
  • 通过临床基因组学来完善检测到的变异的解释.

主要方法:

  • 一种整合性方法,结合了in silico拼接预测,小基因测试和长读RNA测序.
  • 适用于与神经发育障碍相关联的FOXP1基因中的新型内部缺失.

主要成果:

  • 工作流显示表子识别受损,并确定了多个异常的转录异型.
  • 这些发现支持FOXP1变体的功能丧失机制,与哈普洛缺陷相一致.

结论:

  • 实验和转录基因分析对于功能性地表征拼接改变变异是必不可少的.
  • 这种工作流提高了临床基因组学中非编码变体的解释,提高了诊断产量.