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相关概念视频

Alternative RNA Splicing02:18

Alternative RNA Splicing

20.9K
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...
20.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

13.9K
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,...
13.9K
RNA Splicing01:32

RNA Splicing

56.0K
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...
56.0K
Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

5.2K
5.2K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

3.0K
3.0K
Pre-mRNA Processing: Modification of pre-mRNA Ends01:35

Pre-mRNA Processing: Modification of pre-mRNA Ends

9.2K
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps...
9.2K

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相关实验视频

Updated: Jun 3, 2025

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

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系统地开发一个拼接地点创建变体的注册表,利用大量公开可用的转录组序列数据创建变体.

Naoko Iida1, Ai Okada1, Yoshihisa Kobayashi2

  • 1Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan.

Nature communications
|January 9, 2025
PubMed
概括
此摘要是机器生成的。

我们开发了一种新的方法,使用转录组数据找到拼接部位创建变体 (SSCV),识别了超过30,000个SSCV,包括与疾病相关的SSCV. 这一发现有助于理解拼接和开发新疗法.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
11:19

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

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

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Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
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科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 生物信息学是一种生物信息学.

背景情况:

  • 影响拼接的基因组变异在遗传疾病和癌症中至关重要.
  • 在基因组研究中,难以检测和经常错过的新型拼接部位创建变异 (SSCVs).
  • SSCVs是拼接切换反感性寡核酸 (ASO) 疗法的有希望的目标.

研究的目的:

  • 开发一种新的计算框架,仅使用转录组数据来识别SSCV.
  • 从大规模的转录组数据集创建SSCVs的全面注册表.
  • 调查SSCVs的特征和影响,包括它们在 Alu外和疾病中的作用.

主要方法:

  • 开发一种新的框架,使用转录组序列数据对SSCV进行查.
  • 该框架应用于322,072个公开可用的转录组.
  • 对已识别的SSCV进行疾病相关性分析,Alu外化模式和进化关系.

主要成果:

  • 鉴定了30,130种SSCV,其中有5121种影响性致病变体.
  • 通过SSCVs对Alu外离子的表征,包括热点和进化见解.
  • 在NOTCH1基因中发现了新的功能增益SSCVs,可通过ASOs抑制.

结论:

  • 自动SSCV发现的系统方法有助于研究拼接机制.
  • 已识别的SSCV目录是药物发现和治疗开发的宝贵资源.
  • 这些发现突显了ASO在准和纠正SSCVs引起的拼接缺陷方面的潜力.