Prusty et al. 2024 (PRJNA994913)
General Details
| Title | RNA helicase Ighmbp2 regulates THO complex to ensure cellular mRNA homeostasis |
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| Organism | |
| Number of Samples | 4 |
| Release Date | 2023/07/14 00:00 |
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| Protocol Details |
Study Links
| GWIPS-viz | Trips-Viz |
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Repository Details
| SRA | SRP449618 |
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| ENA | SRP449618 |
| GEO | GSE237412 |
| BioProject | PRJNA994913 |
Publication
| Title | |
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| Authors | Prusty AB, Hirmer A, Sierra-Delgado JA, Huber H, Guenther UP, Schlosser A, Dybkov O, Yildirim E, Urlaub H, Meyer KC, Jablonka S, Erhard F, Fischer U |
| Journal | Cell reports |
| Publication Date | 2024 Feb 27 |
| Abstract | RNA helicases constitute a large protein family implicated in cellular RNA homeostasis and disease development. Here, we show that the RNA helicase IGHMBP2, linked to the neuromuscular disorder spinal muscular atrophy with respiratory distress type 1 (SMARD1), associates with polysomes and impacts translation of mRNAs containing short, GC-rich, and structured 5' UTRs. The absence of IGHMBP2 causes ribosome stalling at the start codon of target mRNAs, leading to reduced translation efficiency. The main mRNA targets of IGHMBP2-mediated regulation encode for components of the THO complex (THOC), linking IGHMBP2 to mRNA production and nuclear export. Accordingly, failure of IGHMBP2 regulation of THOC causes perturbations of the transcriptome and its encoded proteome, and ablation of THOC subunits phenocopies these changes. Thus, IGHMBP2 is an upstream regulator of THOC. Of note, IGHMBP2-dependent regulation of THOC is also observed in astrocytes derived from patients with SMARD1 disease, suggesting that deregulated mRNA metabolism contributes to SMARD1 etiology and may enable alternative therapeutic avenues. Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved. |
| PMC | |
| PMID | 38368610 |
| DOI |
| Run Accession | Study Accession | Scientific Name | Cell Line | Library Type | Treatment | GWIPS-viz | Trips-Viz | Reads | BAM | BigWig (F) | BigWig (R) | ||
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| SRR25288058 | PRJNA994913 | Homo sapiens | HeLa | 0.0 | 0.0 |  |
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| SRR25288036 | PRJNA994913 | Homo sapiens | HeLa | 0.0 | 0.0 | |
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| SRR25288035 | PRJNA994913 | Homo sapiens | HeLa | 0.0 | 0.0 | |
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| SRR25288034 | PRJNA994913 | Homo sapiens | HeLa | 0.0 | 0.0 | |
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| Run Accession | Study Accession | Scientific Name | Cell Line | Library Type | Treatment | GWIPS-viz | Trips-Viz | Reads | BAM | BigWig (F) | BigWig (R) |
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