Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

Rinaldi, Fabrizio; Terracciano, Chiara; Pisani, Valerio; Massa, Roberto; Loro, Emanuele; Vergani, Lodovica; Girolamo, Stefano Di; Angelini, C.; Gourdon, Geneviève; Novelli, Giuseppe; Botta, Annalisa

doi:10.1016/j.nbd.2011.08.010

Cited by 22 publications

(12 citation statements)

References 42 publications

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“…One normal function of Muscleblind is to modulate splicing during muscle and heart development [29][30][31][32][33][34] . The second most correlated knockdown was RBFOX2, which is a well-characterized splicing factor that we and others have implicated in epithelial-tomesenchymal transition and invasion 22,23,34,35 .…”

Section: Resultsmentioning

confidence: 99%

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

et al. 2013

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Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) has provided huge insight into the pathways, mechanisms and transcription factors that control differentiation. Here we use high-throughput RT-PCR technology to take a snapshot of splicing changes in the full spectrum of high-and low-expressed genes during induction of fibroblasts, from several donors, into iPSCs and their subsequent redifferentiation. We uncover a programme of concerted alternative splicing changes involved in late mesoderm differentiation and controlled by key splicing regulators MBNL1 and RBFOX2. These critical splicing adjustments arise early in vertebrate evolution and remain fixed in at least 10 genes (including PLOD2, CLSTN1, ATP2A1, PALM, ITGA6, KIF13A, FMNL3, PPIP5K1, MARK2 and FNIP1), implying that vertebrates require alternative splicing to fully implement the instructions of transcriptional control networks.

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Section: Resultsmentioning

confidence: 99%

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

et al. 2013

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“…The unbalanced splicing of NMHC-2C with the prevalent production of the noninserted NM-2C splice form in human myostonic dystrophy type (DM1) muscle, in combination with the down-regulation of both the MYH14 transcript and protein levels, promotes the development of DM1 histopathological features [95]. NM-2C1 is the only splice variant found in tumor cell lines [94].…”

Section: Developmentmentioning

confidence: 99%

“…Genome-wide linkage analysis identified an autosomal-dominant mutation which causes a complex phenotype associated with peripheral neuropathy, myopathy, hoarseness, and hearing loss [210]. Additionally, aberrant splicing of MYH14 and the unbalanced expression of NM-2C splice-variants contribute to the molecular pathogenesis of DM1 [95]. …”

Section: Diseasesmentioning

confidence: 99%

Nonmuscle myosin-2: mix and match

Heissler

Manstein

2012

Cell. Mol. Life Sci.

198

239

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Members of the nonmuscle myosin-2 (NM-2) family of actin-based molecular motors catalyze the conversion of chemical energy into directed movement and force thereby acting as central regulatory components of the eukaryotic cytoskeleton. By cyclically interacting with adenosine triphosphate and F-actin, NM-2 isoforms promote cytoskeletal force generation in established cellular processes like cell migration, shape changes, adhesion dynamics, endo- and exo-cytosis, and cytokinesis. Novel functions of the NM-2 family members in autophagy and viral infection are emerging, making NM-2 isoforms regulators of nearly all cellular processes that require the spatiotemporal organization of cytoskeletal scaffolding. Here, we assess current views about the role of NM-2 isoforms in these activities including the tight regulation of NM-2 assembly and activation through phosphorylation and how NM-2-mediated changes in cytoskeletal dynamics and mechanics affect cell physiological functions in health and disease.

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“…Patients carrying mutations in MYH14 are also linked to many diseases including hereditary blindness (DFNA4), hoarseness, peripheral neuropathy, and myopathy (Donaudy et al, 2004; Choi et al, 2011). In addition, patients expressing aberrant splicing products of MYH14 develop myotonic dystrophy type 1 (DM1), a progressive multisystem genetic disorder that affects 1 in 8000 people worldwide (Rinaldi et al, 2012; Kumar et al, 2013). …”

Section: Myosin II Motor Proteins In Predisposing Humans To Diseasesmentioning

confidence: 99%

Life without double-headed non-muscle myosin II motor proteins

Betapudi

2014

Front. Chem.

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Non-muscle myosin II motor proteins (myosin IIA, myosin IIB, and myosin IIC) belong to a class of molecular motor proteins that are known to transduce cellular free-energy into biological work more efficiently than man-made combustion engines. Nature has given a single myosin II motor protein for lower eukaryotes and multiple for mammals but none for plants in order to provide impetus for their life. These specialized nanomachines drive cellular activities necessary for embryogenesis, organogenesis, and immunity. However, these multifunctional myosin II motor proteins are believed to go awry due to unknown reasons and contribute for the onset and progression of many autosomal-dominant disorders, cataract, deafness, infertility, cancer, kidney, neuronal, and inflammatory diseases. Many pathogens like HIV, Dengue, hepatitis C, and Lymphoma viruses as well as Salmonella and Mycobacteria are now known to take hostage of these dedicated myosin II motor proteins for their efficient pathogenesis. Even after four decades since their discovery, we still have a limited knowledge of how these motor proteins drive cell migration and cytokinesis. We need to enrich our current knowledge on these fundamental cellular processes and develop novel therapeutic strategies to fix mutated myosin II motor proteins in pathological conditions. This is the time to think how to relieve the hijacked myosins from pathogens in order to provide a renewed impetus for patients' life. Understanding how to steer these molecular motors in proliferating and differentiating stem cells will improve stem cell based-therapeutics development. Given the plethora of cellular activities non-muscle myosin motor proteins are involved in, their importance is apparent for human life.

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Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

Cited by 22 publications

References 42 publications

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

Nonmuscle myosin-2: mix and match

Life without double-headed non-muscle myosin II motor proteins

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