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Thrombocytopenia-Absent Radius
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Molecularly, TAR syndrome is linked to a 200-kb interstitial microdeletion of chromosome 1q21.1 resulting in one null RBM8A allele, or polymorphisms in either the 5′-untranslated region or first intron of a hypomorphic RBM8A allele. As the RBM8A gene encodes an RNA-binding protein (Y14), which is a key component of the exon-junction complex (EJC) involved in nuclear export of transcripts, nonsense mediated decay, and translational enhancement, its deletion or alteration abrogates or reduces expression of the hypomorphic allele in a cell type- and developmental stage-specific manner, leading to defective mRNA processing and export [1].
Non-VLPs
Published in Paul Pumpens, Single-Stranded RNA Phages, 2020
The MS2-based tethering allowed functional identification of the following important protein players: Y14, a component of the exon junction complex, which underwent post-translational modifications (Hsu et al. 2005, Chuang et al. 2013); the Xenopus laevis and human DAZ-associated protein 1 (DAZAP1), an RNA-binding protein required for normal growth, development, and fertility (Smith et al. 2011); Ki-1/57 protein from Hodgkin lymphoma (de Almeida Gonçalves et al. 2011); a quadruple BEN domain-containing protein (BEND3) that was highly conserved among vertebrates (Sathyan et al. 2011); Staufen 1 (Kim et al. 2005; Cho et al. 2013a) and Staufen2 (Miki et al. 2011), double-stranded RNA-binding proteins and mammalian orthologs of the Staufen protein in Drosophila melanogaster, the DEAD-Box Protein Dhh1 in yeast (Sweat et al. 2012); Ewing sarcoma protein (Huang L et al. 2012); AUF1, an AU-rich element binding factor heterogeneous nuclear ribonucleoprotein D (1/hnRNP D), as an interacting protein of Epstein-Barr virus−induced noncoding RNA EBER1 (Lee N et al. 2012); and PARP12, a member of a large family of ADP-ribosyl transferases, encoded by an interferon-induced gene (Welsby et al. 2014).
Circ-USP9X interacts with EIF4A3 to promote endothelial cell pyroptosis by regulating GSDMD stability in atherosclerosis
Published in Clinical and Experimental Hypertension, 2023
Shengkai Xu, Yishan Ge, Xuebin Wang, Wei Yin, Xiaoqing Zhu, Jie Wang, Shigang Qiao
The underlying mechanisms of circRNAs are complex. CircRNAs regulate target gene expression by sponging multiple miRNAs or RNA-binding proteins (RBPs). EIF4A3 is an RBP that is the component of the exon junction complex. It is crucial for RNA splicing, trafficking, translation, decay, and location (22,23). EIF4A3 has the potential for disease therapy, such as cancers and acute myocardial infarction (24,25). In AS, circ_0030042 inhibits ox-LDL induced autophagy and improves plaque stability by sponging EIF4A3 (26), suggesting EIF4A3 is associated with AS progression. Nevertheless, the relationship between EIF4A3 and circ-USP9× and the effects of EIF4A3 on endothelial injury remain unclear. In this study, circ-USP9× pulled down EIF4A3, and circ-USP9× bound to EIF4A3 in the cytoplasm, suggesting that circ-USP9× could interact with EIF4A3. Moreover, the overexpression of EIF4A3 abrogated pyroptosis of ox-LDL-treated HUVECs induced by circ-USP9× knockdown. The findings suggested that circ-USP9× promoted endothelial pyroptosis via sponging EIF4A3.
Transcriptomic analysis of the Non-Obstructive Azoospermia (NOA) to address gene expression regulation in human testis
Published in Systems Biology in Reproductive Medicine, 2023
Govindkumar Balagannavar, Kavyashree Basavaraju, Akhilesh Kumar Bajpai, Sravanthi Davuluri, Shruthi Kannan, Vasan S. Srini, Darshan S. Chandrashekar, Neelima Chitturi, Kshitish K. Acharya
A higher number of down-regulated genes, vs. the up-regulated ones, was expected as most spermatogenic cells would be absent or reduced in number, or non-functional or sub-optimally functional, and several key genes expressed during spermatogenesis would also be dormant or under-expressed in the testis of NOA patients. On the other hand, genes expressed in somatic cells and pre-meiotic germ cells within the testis would be proportionately enriched, and the corresponding functions would seem promoted in NOA. Genes up-regulated in NOA had an over-representation of translation, general metabolism, steroidogenesis and androgen biosynthesis, lysosome activity, extracellular matrix, and cell-adhesion-related functions. The mechanism of nonsense-mediated decay, independent of or enhanced by the role of many such RNA processing events, indicated to be important in NOA among up- or down-regulated genes, needs to be explored more. Exon Junction Complex was an interesting pathway striking among the up-regulated genes.
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Published in Expert Opinion on Orphan Drugs, 2021
Ruofan Connie Han, Lewis E. Fry, Ariel Kantor, Michelle E. McClements, Kanmin Xue, Robert E. MacLaren
The generation of a PTC can result in either nonsense-mediated decay of the resultant mRNA transcript, or, if it escapes decay, the production of a truncated and nonfunctional protein product. In nonsense-mediated decay, activity is triggered by the relative location of the PTC within the mRNA sequence to the binding location of a protein complex, the exon-junction complex (EJC). The EJC normally binds approximately 20–24 nucleotides upstream of an mRNA splice-site. This forms a mature ribonuclear complex facilitating normal interaction with the ribosome. If a PTC occurs 50–55 nucleotides upstream of an EJC, this allows the EJC to bind to a kinase-associated protein complex containing the component UF1. Binding triggers release of factors from the complex leading to deadenylation, decapping and exonuclease activity with subsequent degradation of the ribonuclear complex.