scholarly journals Minor Intron Splicing from Basic Science to Disease

2021 ◽  
Vol 22 (11) ◽  
pp. 6062
Author(s):  
Ettaib El Marabti ◽  
Joel Malek ◽  
Ihab Younis
Keyword(s):  
Gene Expression ◽  
Evolutionary Conservation ◽  
Mrna Splicing ◽  
Novel Therapies ◽  
Regulatory Pathway ◽  
Disease Pathogenesis ◽  
Tissue Specific ◽  
Essential Step ◽  
Specific Manner ◽  
Host Genes

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 type, less than 0.4% are U12 type, also known as minor introns (mi-INTs), and require a specialized spliceosome composed of U11, U12, U4atac, U5, and U6atac snRNPs. The high evolutionary conservation and apparent splicing inefficiency of U12 introns have set them apart from their major counterparts and led to speculations on the purpose for their existence. However, recent studies challenged the simple concept of mi-INTs splicing inefficiency due to low abundance of their spliceosome and confirmed their regulatory role in alternative splicing, significantly impacting the expression of their host genes. Additionally, a growing list of minor spliceosome-associated diseases with tissue-specific pathologies affirmed the importance of minor splicing as a key regulatory pathway, which when deregulated could lead to tissue-specific pathologies due to specific alterations in the expression of some minor-intron-containing genes. Consequently, uncovering how mi-INTs splicing is regulated in a tissue-specific manner would allow for better understanding of disease pathogenesis and pave the way for novel therapies, which we highlight in this review.

scholarly journals Uteroplacental Insufficiency Alters Gene Expression of Amino Acid Transporter LAT1 in a Tissue-Specific Manner in IUGR Fetal Rats

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 285A-285A
Author(s):  
Jennifer L Kloesz ◽  
Elisa M Gruetzmacher ◽  
Anna E Tsirka ◽  
Robert H Lane
Keyword(s):  
Gene Expression ◽  
Amino Acid ◽  
Amino Acid Transporter ◽  
Tissue Specific ◽  
Fetal Rats ◽  
Specific Manner ◽  
Acid Transporter

scholarly journals The SUMO ligase Su(var)2-10 controls eu- and heterochromatic gene expression via establishment of H3K9 trimethylation and negative feedback regulation

2019 ◽  
Author(s):  
Maria Ninova ◽  
Baira Godneeva ◽  
Yung-Chia Ariel Chen ◽  
Yicheng Luo ◽  
Sharan J. Prakash ◽  
...  
Keyword(s):  
Gene Expression ◽  
Negative Feedback ◽  
Feedback Regulation ◽  
Specific Gene ◽  
Negative Feedback Regulation ◽  
Tissue Specific ◽  
Tissue Specific Gene ◽  
H3k9 Trimethylation ◽  
Sumo Ligase ◽  
Host Genes

AbstractChromatin is critical for genome compaction and gene expression. On a coarse scale, the genome is divided into euchromatin, which harbors the majority of genes and is enriched in active chromatin marks, and heterochromatin, which is gene-poor but repeat-rich. The conserved molecular hallmark of heterochromatin is the H3K9me3 modification, which is associated with gene silencing. We found that in Drosophila deposition of most of the H3K9me3 mark depends on SUMO and the SUMO-ligase Su(var)2-10, which recruits the histone methyltransferase complex SetDB1/Wde. In addition to repressing repeats, H3K9me3 also influences expression of both hetero- and euchromatic host genes. High H3K9me3 levels in heterochromatin are required to suppress spurious non-canonical transcription and ensure proper gene expression. In euchromatin, a set of conserved genes is repressed by Su(var)2-10/SetDB1-induced H3K9 trimethylation ensuring tissue-specific gene expression. Several components of heterochromatin are themselves repressed by this pathway providing a negative feedback mechanism to ensure chromatin homeostasis.Highlights-Proper expression of host genes residing in heterochromatin requires Su(var)2-10-dependent installation of the H3K9me3 mark to suppress spurious non-canonical transcription.-A set of euchromatic host genes is repressed by transposon-independent installation of H3K9me3 in a process that depends on Su(var)2-10 and SUMO.-Installation of H3K9me3 via Su(var)2-10 ensures tissue-specific gene expression.-H3K9me3-dependent silencing of genes encoding proteins involved in heterochromatin formation provides negative feedback regulation to maintain heterochromatin homeostasis.

scholarly journals The C terminus of p53 regulates gene expression by multiple mechanisms in a target- and tissue-specific manner in vivo

2013 ◽  
Vol 27 (17) ◽  
pp. 1868-1885 ◽  
Author(s):  
P.-J. Hamard ◽  
N. Barthelery ◽  
B. Hogstad ◽  
S. K. Mungamuri ◽  
C. A. Tonnessen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Tissue Specific ◽  
C Terminus ◽  
Specific Manner

scholarly journals A comprehensive manually-curated Compendium of Bovine Transcription Factors

2018 ◽  
Author(s):  
Marcela M de Souza ◽  
Juan M Vaquerizas ◽  
Adhemar Zerlotini ◽  
Ludwig Geistlinger ◽  
Benjamín Hernández-Rodríguez ◽  
...  
Keyword(s):  
Gene Expression ◽  
Transcription Factors ◽  
Regulation Of Gene Expression ◽  
Regulatory Proteins ◽  
Regulatory Mechanisms ◽  
Domain Family ◽  
Specific Expression ◽  
Tissue Specific ◽  
Control Gene Expression ◽  
Specific Manner

ABSTRACTTranscription factors (TFs) are pivotal regulatory proteins that control gene expression in a context-dependent and tissue-specific manner. In contrast to human, where comprehensive curated TF collections exist, bovine TFs are only rudimentary recorded and characterized. In this article, we present a manually-curated compendium of 865 sequence-specific DNA-binding bovines TFs, which we analyzed for domain family distribution, evolutionary conservation, and tissue-specific expression. In addition, we provide a list of putative transcription cofactors derived from known interactions with the identified TFs. Since there is a general lack of knowledge concerning the regulation of gene expression in cattle, the curated list of TF should provide a basis for an improved comprehension of regulatory mechanisms that are specific to the species.

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