解读PROM1替代拼接对人类光受体发育和成熟的影响
Marina Moya-Molina1,2, Birthe Dorgau1, Emily Flood1
1Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Cell death & disease
|October 1, 2024
概括
在光受体发育过程中,PROM1异构4的替代拼接至关重要. 在视网膜有机体中跳过这个外显子会损害的成熟和功能,从而提供了对黄斑病的见解.
科学领域:
- 分子生物学分子生物学
- 发展生物学 发展生物学
- 眼科医生 眼科 眼科
背景情况:
- 替代拼接 (AS) 产生蛋白质组多样性,视网膜组织显示高AS水平.
- 光受体表现出独特的AS模式,包括微型外显子.
- PROM1外因子4的包容性在发育过程中受到调节,并与黄斑病变有关.
研究的目的:
- 研究PROM1外子4替代拼接在人类视网膜发育和光受体功能中的作用.
- 通过使用视网膜器官和反感性寡核酸来建模PROM1外4跳转的影响.
主要方法:
- 视网膜有机体经过二胺酸形态 (PMOs) 处理,以诱导异构4跳转.
- 通过RT-PCR,西式涂抹和免疫光来分析蛋白质和基因表达.
- 大量RNA测序以评估转录原子变化.
主要成果:
- 55% 跳过PROM1异构4的突变使prominin-1表达减少了40%.
- 观察到光受体中的异常积和状缺陷.
- 检测到标记物,压力反应基因和自途径的改变表达.
结论:
- 跳过PROM1第4个外显子会对形光受体的成熟和功能产生负面影响.
- 视网膜有机体是研究AS和视网膜疾病的宝贵模型.
- 这些发现支持PROM1外因子4跳转在晚发症轻微黄斑病变的发病过程中的作用.
相关概念视频
Alternative RNA Splicing
21.0K
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...
21.0K
RNA Splicing
56.1K
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...
56.1K
Photoreceptors and Visual Pathways
5.9K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
5.9K
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


