相关实验视频
Updated: Jun 9, 2026

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Using the E1A Minigene Tool to Study mRNA Splicing Changes
Published on: April 22, 2021
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在mRNA剪接的缺陷和对不孕症的影响:一个全面的审查和分析
Kuokuo Li1,2,3, Yuge Chen1,2,3, Yuying Sheng1,2,3
1Department of Obstetrics and Gynecology, Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Human reproduction update
|February 15, 2025
概括
mRNA拼接对于繁殖至关重要. 剪接因子和cis作用元素的干扰导致不孕,需要改进诊断和治疗策略.
科学领域:
- 生殖生物学 生殖生物学
- 分子遗传学 分子遗传学
- 基因组学就是基因组学.
背景情况:
- mRNA拼接对于生殖系统的发育,内分泌功能和雌性体生产至关重要.
- 在mRNA拼接中,功能障碍的转化作用因子和cis作用元素与男性和女性不孕症有关.
- 在繁殖过程中许多拼接因子的精确机制仍然不清楚, cis-acting元素变异对不孕不育的影响还没有完全被描述.
研究的目的:
- 审查关于mRNA拼接调节及其与不孕症疾病的联系的当前知识.
- 引入优先考虑和验证与人类不孕症相关联的剪接变体的方法.
- 探索潜在的异常拼接疗法来治疗不孕症.
主要方法:
- 从1977年5月到2024年7月,在PubMed中进行了系统的文献搜索.
- 搜索术语包括"拼接"",拼接"",变异"",突变"以及各种不孕症和生殖术语.
- 分析侧重于人类和模型生物研究,以确定与拼接相关的基因和不孕不育的变异.
主要成果:
- 包括5014篇出版物中的291篇,详细介绍了繁殖中的mRNA拼接机制.
- 在54个基因的cis-acting元素中,52个转基因作用蛋白和73个验证的拼接变体的破坏与20种类型的人类不孕症有关.
- 在正规拼接部位以外的27个变异被确定,在标准遗传分析中可能会错过;in silico预测有助于优先考虑异常.
结论:
- 这一综述增强了对mRNA拼接在生殖调节中的作用的理解.
- 预计将有助于更好地识别致病变体,并开发潜在的不孕症治疗方法.
- 对拼接机制和变异影响的进一步研究对生殖健康至关重要.
相关概念视频
RNA Splicing
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...
Pre-mRNA Processing
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 to it (7-Methyl guanosine). This 5’ cap helps the...
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 to it (7-Methyl guanosine). This 5’ cap helps the...
RNA Splicing
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...
Nonsense-mediated mRNA Decay
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
Alternative RNA Splicing
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...
Alternative RNA Splicing
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...

