Variations in U4 and U6 snRNA genes lead to retinitis pigmentosa.
🧬 153 RP cases found with RNU4-2 and RNU6 variants in 67 families
🧬 Variants located in U4/U6 duplex's vital junction
🧬 ~1.4% of undiagnosed RP cases explained by these variants
🧬 Potential impact on tri-snRNP splicing factors
#Genomics #Spliceosome #RetinitisPigmentosa #NoncodingRNA #Pub2Post
It is a key player in biological processes and critical to life as we know it!
RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.
The minor #spliceosome: Researchers reveal new structural insights into an essential #RNA-protein complex
https://phys.org/news/2025-02-minor-spliceosome-reveal-insights-essential.html
In human cells, only a small proportion of the information written in genes is used to produce proteins. How does the cell select this information? A large molecular machine called the spliceosome continuously separates the coding and non-coding regions of our genes—and it's doing this even as you read these lines.
The #spliceosome: An atomic-level look into how #cells avoid errors when manufacturing #mRNA.
https://phys.org/news/2025-02-spliceosome-atomic-cells-errors-mrna.html
A complex molecular machine, the spliceosome, ensures that the genetic information from the genome, after being transcribed into mRNA precursors, is correctly assembled into mature mRNA. Splicing is a basic requirement for producing proteins that fulfill an organism's vital functions. Faulty functioning of a spliceosome can lead to a variety of serious diseases.
When your body turns your DNA into one of many alternate protein forms, it uses this finely tuned biomachinery for a rope dance with the mRNA strand to carry out very coordinated cuts and joins.
Absolutely incredible to see it animated with this level of detail :0
#RNA #spliceosome #structuralbiology #animation #exons #introns #alessoninthelariat
"Most importantly, by proving that the evolutionarily-conserved RNA core of splicing machines can recognize small molecules specifically, our work provides a solid basis for the rational design of splicing modulators not only against bacterial and organellar introns, but also against the human spliceosome, which is a validated drug target for the treatment of congenital diseases and cancers." #spliceosome #splicing #intron #introns #transcription #ribonucleicAcid #RNA
Splicing is a vital biological reaction and a druggable pathway to treat infection, genetic diseases and cancer. Here, the authors describe how splicing is modulated by small molecules that target the conserved splicing active site in the group II introns.
"Evidence implicates..catalytic activity of the intron lariat spliceosome (ILS) in which the 3′-OH of the lariat tail... attacks the branch, joining the intron 3′ end to the 5′ splice site in a 3′–5′ linked circle. Human U2 and U12 spliceosomes produce analogous full-length and processed circles. Postsplicing catalytic activity of the #spliceosome may promote #intron transposition during eukaryotic #genome #evolution."
http://m.genesdev.cshlp.org/content/early/2024/05/09/gad.351764.124
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