Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2102569120
Abstract: In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in… read more here.
Keywords: minor spliceosome; minor intron; deficiency minor; ciliary defects ... See more keywords
Abstract A013: Minor intron splicing is critical for survival of lethal prostate cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.prca2023-a013
Abstract: The role of major intron splicing in PCa is well established and highly investigated. However, the equally important and impactful minor spliceosome (MiS) and minor intron splicing have remained underexplored in PCa. Here for the… read more here.
Keywords: intron; pca; minor intron; mis ... See more keywords
ZRSR2 Mutation Induced Minor Intron Retention Drives MDS and Diverse Cancer Predisposition Via Aberrant Splicing of LZTR1
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DOI: 10.1182/blood-2020-136445
Abstract: Mutations in RNA splicing factors are amongst the most common genetic alterations in myeloid malignancies. Mutations in the splicing factors SF3B1, SRSF2, and U2AF1 occur as heterozygous, missense mutations and have been shown to confer… read more here.
Keywords: minor intron; retention; zrsr2; intron ... See more keywords
Inhibition of minor intron splicing reduces Na+ and Ca2+ channel expression and function in cardiomyocytes
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DOI: 10.1242/jcs.259191
Abstract: ABSTRACT Eukaryotic genomes contain a tiny subset of ‘minor class’ introns with unique sequence elements that require their own splicing machinery. These minor introns are present in certain gene families with specific functions, such as… read more here.
Keywords: expression function; intron splicing; channel expression; minor spliceosome ... See more keywords
Minor Intron Splicing from Basic Science to Disease
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DOI: 10.3390/ijms22116062
Abstract: Pre-mRNA splicing is an essential step in gene expression and is catalyzed by two machineries in eukaryotes: the major (U2 type) and minor (U12 type) spliceosomes. While the majority of introns in humans are U2… read more here.
Keywords: tissue specific; intron splicing; basic science; intron ... See more keywords