2025 Hyper Recent •CC0 1.0 Universal

This work is dedicated to the public domain. No rights reserved.

Access Preprint From Server
September 6th, 2025
Version: 1
Institut NeuroMyoGene-PGNM UCBL-CNRS UMR5261 INSERM U1315, Lyon, France
cell biology
bioRxiv

Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear FeS Cluster Assembly

Mosbach, V.Open in Google Scholar•Maio, N.Open in Google Scholar•Diedhiou, N.Open in Google Scholar•Hennick, A.Open in Google Scholar•Dall'Agnol, L.Open in Google Scholar•Reutenauer, L.Open in Google Scholar•Marczak, L.Open in Google Scholar•Birling, M.-C.Open in Google Scholar•Eisenmann, A.Open in Google Scholar•Martelli, A.Open in Google Scholaret al.

Iron-sulfur (Fe-S) clusters are essential cofactors required for the activity of numerous proteins involved in fundamental cellular processes, including DNA replication, metabolism and mitochondrial respiration. In eukaryotes, Fe-S cluster biogenesis is initiated in mitochondria by the ISC machinery, which assembles iron and sulfur, delivered by a cysteine desulfurase, onto the scaffold protein ISCU. Frataxin (FXN), a key regulator of this pathway, enhances Fe-S production by accelerating persulfide transfer to ISCU. FXN is essential in eukaryotes, and its loss results in petite phenotype in yeast, senescence in dividing mammalian cells and embryonic lethality in mice. Interestingly, in yeast, a methionine to isoleucine substitution at position 141 of the scaffold protein Isu1 can bypass the requirement of FXN. To test whether this bypass mechanism is conserved in mammals, we introduced the equivalent M141I substitution into the endogenous Iscu gene in murine fibroblasts carrying a conditional Fxn allele using CRISPR-Cas9. We show that the ISCU M141I variant enables cell survival in the absence of FXN, preventing cell cycle arrest and decreasing baseline DNA damage. However, these FXN-null survivor clones exhibit slower proliferation, persistent mitochondrial dysfunction and defective mitochondrial Fe-S cluster proteins. In contrast, nuclear and cytosolic Fe-S proteins are preserved, as is cellular iron homeostasis. Importantly, the ISCU M141I variant delays, but does not fully rescue, embryonic lethality in Fxn-deficient mice. Altogether, our results reveal a previously unrecognized compartment-specific rescue of Fe-S cluster dependent processes by the ISCU M141I variant in mammalian cells, raising for the first time the possibility of compartmental regulation of Fe-S cluster biogenesis.

Similar Papers

bioRxiv
Sun Sep 07 2025
Histone methyltransferase DOT1L differentially affects the development of dendritic cell subsets
Dendritic cells (DCs) are important orchestrators of immune responses. Their development in the bone marrow is controlled by transcription factors, but epigenetic mechanisms remain poorly understood. DOT1L is emerging as a key epigenetic regulator in immune cells. By mapping DOT1L-mediated histone H3K79 methylation in canonical DC subsets, we observed that DOT1L modified common as well as DC subse...
Bouma, R. G.
•
de Leeuw, W.-J.
•
Wang, A. Z.
•
Malik, M.
...•
den Haan, J. M.
bioRxiv
Sat Sep 06 2025
RNA helicase Ddx21 safeguards fetal HSPC expansion by recruiting Kdm5a to epigenetically sustain ribosomal and hematopoietic gene transcription
Fetal hematopoietic stem and progenitor cells (HSPCs) require active ribosome biogenesis to sustain their rapid proliferation, yet how non-structural ribosomal factors regulate this process remains unclear. Here, we identify the RNA helicase Ddx21 as a critical determinant of fetal hematopoiesis through its epigenetic role in maintaining active ribosomal transcription. Conditional knockout of Ddx2...
Leung, A. O.-W.
•
Li, C.
•
Huang, X.
•
Fan, Z.
...•
Cheung, H. H.
bioRxiv
Sat Sep 06 2025
MISO Regulates Mitochondria Dynamics and mtDNA Homeostasis by Establishing Inner Membrane Subdomains
Mitochondrial dynamics and mtDNA homeostasis are essential for numerous biological processes and have recently been linked through distinct subdomains termed small MTFP1-enriched mitochondria (SMEM). However, the molecular mechanisms governing this connection remain unclear. Here, we identified MISO (Mitochondrial Inner membrane Subdomain Organizer), a novel protein that regulates mitochondrial dy...
Zhang, Y.
•
Xia, Y.
•
Wang, X.
•
Xia, Y.
...•
He, L.
bioRxiv
Sat Sep 06 2025
Mitochondrial proteostatic stress disrupts mitoribosome biogenesis and translation
Protein aggregation in various cellular compartments is a hallmark of proteostasis impairment linked to aging and numerous pathologies. Mitochondrial function depends on a balanced interplay of proteins imported from the cytosol as well as those synthesized on mitochondrial ribosomes (mitoribosomes). Here, we reveal an unexpected susceptibility of mitoribosome biogenesis to organellar proteostatic...
Holthusen, H.
•
Trinkaus, V. A.
•
Fernandez Gonzalez, C.
•
Saha, I.
...•
Hartl, F.-U.
bioRxiv
Sat Sep 06 2025
Unconventional secretion of angiogenic sonic-hedgehog-containing large extracellular vesicles is stimulated via the PI3K/Rab18-GDP pathway
Large extracellular vesicles (lEVs), with diameters >600 nm, play essential roles in special types of intercellular communications. However, information on the molecular mechanism underlying their roles and on their relevance remains scarce. Here we show that PI3K/Rab18-GDP signaling facilitates the secretion of lEVs from human mesenchymal stem cells (hMSCs) and fibroblasts. These EVs contain a la...
Wang, S.
•
Imai, R.
•
Tanaka, Y.
bioRxiv
Sat Sep 06 2025
Peripheral inflammation mediates midbrain Lrrk2 kinase activity via Rab32 expression
Parkinson disease (PD) is a neurodegenerative movement disorder that involves a complex interaction between genetic background, environmental exposures and ageing. Increased leucine-rich repeat kinase 2 (LRRK2) activity confers substantial risk for PD albeit with age-associated and incomplete penetrance that suggests other factors are required to manifest disease. We recently linked and associated...
Follett, J.
•
Deng, I. B.
•
Sharp, R. C.
•
Wall, S. C.
...•
Farrer, M. J.
bioRxiv
Sat Sep 06 2025
SIMULATING TUMOR MITOCHONDRIAL ENERGETICS THROUGH ENGINEERING-STYLE ENERGY METRICS
Cancer progression is linked to alterations in cellular energetics, where malignant cells reprogram their metabolism to sustain proliferation, resist stress and adapt to nutrient limitations. Beyond intrinsic adaptations and plastic dynamic switches between glycolysis and oxidative phosphorylation, recent work has shown that tumors actively remodel their microenvironment by acquiring functional mi...
Tozzi, A.
bioRxiv
Sat Sep 06 2025
Changes in Histone Isoform Abundance and Histone Post-Translational Modifications during Anoxia Tolerance and Recovery in WS40NE cells of Austrofundulus limnaeus
Anoxia is an often-lethal stressor to vertebrates, yet some vertebrates have adapted cellular mechanisms to survive in anoxic conditions. Embryos of the annual killifish Austrofundulus limnaeus have the greatest tolerance to anoxia of all vertebrates, yet the epigenetic mechanisms that support their anoxia tolerance are unknown. Using mass spectrometry, 1043 unique biologically relevant histone po...
Hughes, C.
•
Mojica, E. A.
•
Kültz, D.
•
Podrabsky, J.
bioRxiv
Sat Sep 06 2025
In situ cryo-ET redefines HPV disassembly and transport paradigms
Human papillomavirus (HPV) causes 4.5% of all human cancers, although a complete cellular basis of infection remains unclear. The mechanisms of virus disassembly and transport are particularly enigmatic. Here, we use in situ cryo-electron tomography (cryo-ET) to provide direct visualization of high-risk HPV16 during its infection cycle. We demonstrate that, when HPV reaches the lysosome, it remain...
Sutanto, R.
•
Rana, J.
•
Tsai, B.
•
Mosalaganti, S.