AI Article Synopsis
- U12-type introns are a unique group of nuclear introns that are processed by a specialized spliceosome and may play a role in regulating gene expression due to their slower splicing rates.
- Recent research across various organisms, including humans, zebrafish, and Arabidopsis plants, has provided new insights into the importance of this lesser-known splicing mechanism.
- The studies highlight implications for understanding how the minor spliceosome functions and its potential medical relevance, particularly in conditions related to mutations in spliceosomal components.
Article Abstract
U12-type introns are a rare class of nuclear introns that are removed by a dedicated U12-dependent spliceosome and are thought to regulate the expression of their target genes owing through their slower splicing reaction. Recent genome-wide studies on the splicing of U12-type introns are now providing new insights on the biological significance of this parallel splicing machinery. The new studies cover multiple different organisms and experimental systems, including human patient cells with mutations in the components of the minor spliceosome, zebrafish with similar mutations and various experimentally manipulated human cells and Arabidopsis plants. Here, we will discuss the potential implications of these studies on the understanding of the mechanism and regulation of the minor spliceosome, as well as their medical implications.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615840 | PMC |
| http://dx.doi.org/10.1080/15476286.2014.996454 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Structural basis of 5' splice site recognition by the minor spliceosome.
Mol Cell
January 2025
European Molecular Biology Laboratory (EMBL), EMBL Grenoble, 71 Avenue des Martyrs, 38042 Grenoble, France. Electronic address:
The minor spliceosome catalyzes excision of U12-dependent introns from precursors of eukaryotic messenger RNAs (pre-mRNAs). This process is critical for many cellular functions, but the underlying molecular mechanisms remain elusive. Here, we report a cryoelectron microscopy (cryo-EM) reconstruction of the 13-subunit human U11 small nuclear ribonucleoprotein particle (snRNP) complex in apo and substrate-bound forms, revealing the architecture of the U11 small nuclear RNA (snRNA), five minor spliceosome-specific factors, and the mechanism of the U12-type 5' splice site (5'SS) recognition.
View Article and Find Full Text PDFRole of U11/U12 minor spliceosome gene in Ciliogenesis and WNT Signaling.
bioRxiv
August 2024
Washington University in St. Louis, School of Medicine, Cell Biology and Physiology, St. Louis, MO.
Despite the fact that 0.5% of human introns are processed by the U11/U12 minor spliceosome, the latter influences gene expression across multiple cellular processes. The ZCRB1 protein is a recently described core component of the U12 mono-snRNP minor spliceosome, but its functional significance to minor splicing, gene regulation, and biological signaling cascades is poorly understood.
View Article and Find Full Text PDFB-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Clin Genet
October 2024
Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement Sud-Est, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Bron, France.
Microcephalic osteodysplastic primordial dwarfism type I (MOPDI) is a very rare and severe autosomal recessive disorder characterized by marked intrauterine growth retardation, skeletal dysplasia, microcephaly and brain malformations. MOPDI is caused by biallelic mutations in RNU4ATAC, a non-coding gene involved in U12-type splicing of 1% of the introns in the genome, which are recognized by their specific splicing consensus sequences. Here, we describe a unique observation of immunodeficiency in twin sisters with mild MOPDI, who harbor a novel n.
View Article and Find Full Text PDFDistinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome.
Nucleic Acids Res
April 2024
Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Here, we identify RBM41 as a novel unique protein component of the minor spliceosome. RBM41 has no previously recognized cellular function but has been identified as a paralog of U11/U12-65K, a known unique component of the U11/U12 di-snRNP. Both proteins use their highly similar C-terminal RRMs to bind to 3'-terminal stem-loops in U12 and U6atac snRNAs with comparable affinity.
View Article and Find Full Text PDFStructural basis of U12-type intron engagement by the fully assembled human minor spliceosome.
Science
March 2024
Research Center for Industries of the Future, Key Zhejiang Key Laboratory of Structural Biology, School of Life Sciences, Westlake University, Xihu District, Hangzhou 310024, Zhejiang Province, China.
Article Synopsis
- - The minor spliceosome is crucial for splicing U12-type introns and comprises five unique small nuclear RNAs (snRNAs), only one of which is shared with the major spliceosome.
- - Researchers used cryo-electron microscopy to create a detailed structure of the human minor spliceosome pre-B complex, including essential components like U11, U12 snRNP, and the U4atac/U6atac.U5 tri-snRNP.
- - The study reveals specific interactions between U11 snRNA and proteins, as well as unique characteristics that differentiate the minor tri-snRNP from the major tri-snRNPs during spliceosome assembly.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!