相关实验视频
Updated: Jul 2, 2025

10:25
Using the E1A Minigene Tool to Study mRNA Splicing Changes
Published on: April 22, 2021
4.9K
COL4A5基因中的三个外基因变异在一个小基因试验中改变了RNA剪接
Ran Zhang1, Yanhua Lang2, Xiaomeng Shi1
1Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Molecular genetics & genomic medicine
|February 24, 2024
概括
COL4A5基因中的单核酸变异可以破坏RNA剪接,导致X链接的阿尔波特综合征 (XLAS). 这项研究证实,特定的变异会导致外跳跃,影响的预后.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 腎臟醫學 腎臟醫學
背景情况:
- 链接X的阿尔波特综合征 (XLAS) 是一种由COL4A5基因变异引起的遗传性病.
- 异构体内的单核酸变体 (SNV) 可以改变拼接调节信号,影响mRNA前处理.
- 了解对拼接的变异效应对于预测XLAS患者的脏预后至关重要.
研究的目的:
- 为了调查COL4A5外子中的SNV,特别是5'端或内部位置的SNV,是否会诱导异常拼接.
- 为了识别破坏正常拼接机制的特定变异.
主要方法:
- 对401个COL4A5SNV进行生物信息分析.
- 迷你基因测试用于实验验证影响前mRNA拼接的候选变异.
主要成果:
- 在8个候选SNV中,有3个对拼接产生显著影响,导致完全或部分的外子跳转.
- 变种c.2678G>C和c.2918G>A可能会破坏正规拼接部位.
- 变体c.3700C>T可能会破坏拼接增强剂并产生沉声器,导致41号外子跳转.
结论:
- 在COL4A5中错误和无意义的变体可以导致异常拼接,包括外子跳转.
- 这项研究强调了在mRNA水平上评估SNV影响对于准确的XLAS预后的重要性.
相关概念视频
RNA Splicing
56.4K
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...
56.4K
Alternative RNA Splicing
21.2K
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...
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...
21.2K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Chromatin Structure Regulates pre-mRNA Processing
7.0K
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
The chromatin structure, especially...
7.0K
Pre-mRNA Processing: RNA Splicing
5.2K
5.2K
What is Gene Expression?
8.5K
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
8.5K

