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Jauliac, E.

Publications and source records attributed to Jauliac, E..

5 recordsLinked to original sources

REDD1 Regulates MERCS, Protein Synthesis and NMJ Stability in Fast Myofibers During Dexamethasone-Induced Muscle Wasting

Background: Glucocorticoids cause skeletal muscle atrophy preferentially affecting fast glycolytic fibers, but the mechanisms involved in this fiber selectivity is unclear. REDD1 is a glucocorticoid-induced stress protein that limits muscle protein synthesis inducing atrophy. However, it remains unknown whether REDD1 exerts myofiber type-specific effects and through which precise mechanisms it regulates protein synthesis. We investigated the role of myofiber REDD1 expression in dexamethasone (DEX)-induced muscle atrophy, with a particular focus on its involvement in mitochondria-ER contact sites (MERCS), protein synthesis, and neuromuscular junction (NMJ) integrity. Methods: We generated tamoxifen-inducible, muscle-specific REDD1 knockout mice (REDD1fl/flHSA-CreERT2) and compared them with floxed littermates (WT) in a 2x2 design (WT/KO x PBS/DEX, 7 days). We combined single-nucleus RNA sequencing, RNAscope, immunofluorescence, transmission electron microscopy, proximity ligation assay, SUnSET puromycin labelling, western blot and RT-qPCR, and AdenoFATE1-mediated MERCS disruption in C2C12 myotubes. Results: Glucocorticoid receptor and REDD1 transcripts were co-enriched in fast glycolytic fibers mostly atrophied by DEX (~20%). REDD1 deletion in myofiber drove to lower basal muscle mass and fast fiber volume but protected them from DEX-induced atrophy. DEX inhibited protein synthesis (~70%) in WT mice with no matching change in Akt/mTOR-pathway activity. In REDD1 KO mice, protein synthesis was already low and was not affected by DEX. DEX-induced REDD1 expression remodelled mitochondrial network and MERCS in a subcellular compartment-specific manner. The intermyofibrillar MERCS minimum distance shortened in both genotypes reaching pathological distances only in WT mice (WT ~28 --> ~5 nm; KO ~25 --> ~15 nm). Perinuclear MERCS and mitochondria-nuclei distances increased in WT mice only (~18 --> ~45 nm and ~130 --> ~460 nm). In WT mice only, DEX-induced alteration of the perinuclear mitochondrial network was associated with a loss of myonuclei accumulating mt-RNA and exhibiting an anabolic transcriptomic signature notably enriched in sarcomeric transcripts. These findings suggest that REDD1-dependent MERCS remodelling may regulate muscle anabolism beyond the control of mRNA translation, by shaping the myonuclear transcriptome. Finally, REDD1 localised to the NMJ and reduced endplate area during DEX treatment. Interestingly, MERCS were denser in NMJ than in myofiber body and we showed in vitro that FATE1-mediated MERCS disruption was sufficient to reduce protein synthesis and agrin-induced acetylcholine-receptor clustering demonstrating that REDD1 and MERCS are important for NMJ stabilization. Conclusions: Muscle REDD1 links the glucocorticoid response to compartment-specific mitochondrial network remodelling, protein synthesis as well as NMJ stability in fast glycolytic fibers. Our results also show that REDD1 is important for maintaining basal mitochondrial network and protein synthesis homeostasis.

cell biology↗

EYA1/EYA2 and EYA3/EYA4 act as stage-specific SIX cofactors in embryonic and adult regenerative skeletal myogenesis

Eya3 and Eya4 are two Eya genes expressed in adult myogenic stem cells, where they may act as SIX cofactors. We analyzed muscle regeneration in single and compound Eya3 and satellite cell-specific Eya4 mutant mice. A kinetic analysis of muscle regeneration after Notexin injury of the Tibialis Anterior revealed no major phenotype at 4, 14, and 30 days after injury in terms of PAX7+ cell number and myofiber cross-sectional area in Eya3 mutants, while all parameters were decreased in Eya4 mutants and further worsened in Eya3/Eya4 double mutants, in which we also observed a modification of the myofiber phenotype at 30 days after injury. Satellite cells were cultured ex vivo and Eya4 deletion was induced by Ad-Cre-mediated recombination. While single Eya3 mutant cells showed normal proliferation and differentiation, double mutant cells exhibited normal proliferation but failed to fuse. Analysis of their transcriptome revealed that the expression of Myomixer, Follistatin, and Noggin was severely downregulated specifically in double mutant cells, explaining their fusion deficiency. To gain a better understanding of the involvement of Eya genes during embryonic development and the genesis of PAX7+ myogenic stem cells, we analyzed Eya1 / ;Eya2 / , Eya3 / , Eya4 / , and Eya3 / ;Eya4 / E18.5 mutant fetuses at the limb and craniofacial levels. In Eya1 / ;Eya2 / fetuses, we confirmed the absence of distal limb muscles and observed reduced craniofacial muscles. In Eya3 / ;Eya4 / fetuses, craniofacial myogenesis appeared preserved and PAX7+ myogenic stem cells were present. BackgroundThe Eyes absent (Eya) genes encode transcriptional co-activators and phosphatases that function within the PAX-SIX-EYA-DACH (PSED) regulatory network. In skeletal muscle, EYA proteins cooperate with SIX homeoproteins to control myogenic gene expression during both embryonic development and adult regeneration. While Eya1 and Eya2 are predominantly expressed in embryonic myogenic progenitors and Eya3 and Eya4 are the dominant paralogs in adult satellite cells (SC), the specific and redundant contributions of individual family members to myogenesis remain poorly characterized. MethodsWe analyzed compound Eya mutant mice during adult Tibialis anterior muscle regeneration and during embryogenesis. We complemented this analysis by performing ex vivo myogenic stem cell cultures from compound Eya mutants and examining their fusion capacity. ResultsAnalysis of muscle regeneration following Notexin injury revealed that Eya2 and Eya3 single mutants display no major regenerative deficit. In contrast, satellite cell-specific deletion of Eya4 (Eya4sc/sc) caused a transient impairment of early regeneration, with reduced numbers of smaller regenerating MYH3+ (embryonic myosin heavy chain) myofibers and a transient decrease in SC number at 4 days post-injury (dpi). Compound Eya3-/-;Eya4sc/scdouble mutants showed a more severe and persistent phenotype, with decreased myofiber cross-sectional area, reduced myonuclear accretion, accumulation of PAX7+ cells associated with regenerated myofibers, and altered fiber-type composition at 14 and 30 dpi. Ex vivo analysis of double mutant SCs revealed a specific and complete blockade of myogenic fusion without defects in proliferation or MYOD expression. Transcriptomic analysis identified severe downregulation of Myomixer, Noggin, and Follistatin in differentiating Eya3-/-;Eya4-/- SCs. Open-access SIX1 and SIX4 ChIP-seq publicly available data confirmed direct binding at the Myomixer, Noggin, and Follistatin loci, supporting a direct SIX-EYA transcriptional mechanism. In parallel, embryonic analysis demonstrated that Eya1-/-;Eya2-/-E18.5 fetuses lack distal limb musculature and display severe craniofacial muscle hypoplasia, while in Eya3-/-;Eya4-/-fetuses limb and craniofacial musculature developed with no detectable defects. ConclusionsThese results reveal distinct temporal requirements for EYA proteins in skeletal muscle: EYA1 and EYA2 are essential SIX cofactors for embryonic myogenic fate acquisition in hypaxial and craniofacial progenitors, while EYA3 and EYA4 act redundantly in adult satellite cells to enable myogenic fusion by maintaining BMP antagonist expression and Myomixer activation downstream of the SIX-EYA transcriptional complex.

developmental biology↗

c-MAF transduces motor neuron firing to sustain fast-glycolytic myofibers and neuromuscular junctions

This study examined how motoneuron activity influences transcription factor binding in mouse fast glycolytic Myh4+ muscle fibers. Single nucleus multiomics of innervated versus denervated tibialis anterior muscles revealed altered chromatin accessibility: SIX and c-MAF binding sites decreased while JUN, FOS, and RUNX1 sites increased in denervated Myh4+ myonuclei. c-MAF showed strong nuclear enrichment after 100 Hz stimulation and periods of increased motoneuron activity but was absent following denervation, establishing it as a primary readout of fast motoneuron firing. Genome-wide analysis demonstrated that c-MAF binding site spacing encodes functionally distinct muscle gene programs. Analysis of constitutive and inducible skeletal muscle-specific c-Maf mutants revealed that c-MAF loss caused region-specific MYH4+ fiber atrophy, MYH1/MYH2 fiber type shifts resembling ALS G93A mouse phenotypes, and progressive neuromuscular junction fragmentation with increased motoneuron terminal sprouting and ectopic reinnervation. These findings establish c-MAF as a critical mediator linking motoneuron activity to muscle gene regulation, fiber integrity, and neuromuscular junction maintenance in fast glycolytic fibers.

physiology↗

SIX1-dependent myofiber typology and metabolism controls muscle hypertrophy

The different types of muscle fibres respond in a specific way to hypertrophy or atrophy. The mechanisms underlying these heterogeneous adaptations remain poorly understood. Using single-nucleus RNA sequencing, we propose that fast glycolytic fibres show genetic limitations to hypertrophy induced by mechanical overload. We show that a prior fibre transition, achieved by reducing SIX1 protein expression (hypomorphism), enhances and accelerates overload-induced hypertrophy, bypassing the genetic limitations of fast glycolytic fibres. In contrast and unexpectedly, Six1 knockout in myofibers abolished overload-induced hypertrophy and instead caused atrophy of IIb/IIx fibers, despite the induction of a strong slow oxidative phenotype. In particular, Six1 deletion leads to metabolic defects caused by inhibition of glycolysis, AMPK and mitochondrial biogenesis. Our findings highlight the critical role of SIX1/AMPK/glycolysis-dependent aerobic metabolism in muscle growth and suggest that fibre type transitions, coupled with preserved metabolic function, may optimise hypertrophic responses.

physiology↗

Local translational program at the muscle-tendon junction endows domain identity in muscle syncytia

How cells establish specialized subdomains is a fundamental question in cell and tissue biology. Skeletal muscle fibers, among the largest cells in the body, are multinucleated and form distinct regions such as the neuromuscular and myotendinous junctions (MTJ), the latter forming a critical interface between muscle and tendon that transmits contractile force. While transcriptional heterogeneity among myonuclei has been described, whether local translation contributes to domain identity remains unknown, largely due to the lack of tools for domain-specific manipulation. Here, we introduce MTJ-AAV, a viral system that enables selective genetic targeting of MTJ myonuclei. This approach allowed MTJ-specific ribosome tagging and revealed extensive translational regulation underlying MTJ biology and its remodeling during exercise. Interestingly, untranslated regions of these transcripts were sufficient to control regionalized translation. Notably, the KLF-family transcription factors emerged as translationally upregulated targets at the MTJ, where they drive local gene expression. Our findings establish local translation as a key layer of subcellular specialization and provide a versatile toolkit for dissecting spatial molecular regulation within muscle syncytia.

cell biology↗