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Mutsuddi, M.

Publications and source records attributed to Mutsuddi, M..

3 recordsLinked to original sources

Interplay of Spoonbill, Larp7 and survival motor neuron, in Drosophila model of Spinocerebellar Ataxia 8 non-coding RNA associated neurodegeneration

A deeper understanding of neurodegenerative disorders at the level of genetic or environmental risk factors as well as contributing genes, pathways, and networks suggests the presence of shared molecular mechanisms. Previously, we have reported that the KH domain of the Spoonbill protein alone can suppress non-coding Spinocerebellar Ataxia 8 (SCA8) associated neurodegeneration. In the current study, we have identified dLarp7 as a novel interacting partner of Spoonbill in Drosophila. Mammalian Larp7 is associated with a neurodevelopmental disorder, Alazami Syndrome (AS). In this study, we report that dLarp7 protein is recruited into the pathogenic SCA8 RNA foci, which leads to depletion of its downstream target, 7SKsnRNA. Soaking away of Larp7 into toxic RNA foci results in its depletion from the physiological pool resulting in destabilization and depletion of 7SKsnRNP. Hence, increasing the dose of dLarp7 suppressed SCA8 associated neurodegeneration, by restoring the physiological levels of dLarp7 and 7SKsnRNP. In addition, it was observed that dLarp7 interacts with the somatic motor neuron (SMN) protein which is associated with spinal muscular atrophy (SMA). This observation led us to explore the interaction of Drosophila SMN1 orthologue with pathogenic SCA8 associated neurodegeneration. Intriguingly, SMN protein modulated molecular neuropathogenesis associated with SCA8. The presence of orthologues of Drosophila RNA binding proteins, dLarp7 and SMN, with mammalian counterparts underlines the translational importance of our findings. Our study also hints at the shared molecular mechanisms that underlies multiple neurodegenerative diseases. A novel association of Drosophila homologs of AS-linked Larp7 and SMA-causing SMN1 with SCA8 associated neurodegeneration suggests an overlap of molecular threads underlying the pathogenesis of neurodegenerative disorders.

neuroscience↗

Notch and LIM-homeodomain protein Arrowhead regulate each other in a feedback mechanism to play a role in wing and neuronal development in Drosophila

Notch pathway is an evolutionarily conserved signaling system that operates to influence an astonishing array of cell fate decisions in different developmental contexts. To identify novel effectors of Notch signaling, we analyzed the whole transcriptome of Drosophila wing and eye imaginal discs in which an activated form of Notch was overexpressed. A LIM homeodomain protein Arrowhead (Awh) was identified as a novel candidate which plays a crucial role in Notch mediated developmental events. Awh alleles show strong genetic interaction with Notch pathway components. Awh loss-of-function upregulates Notch targets Cut and Wingless. Awh gain-of-function downregulates Notch targets by reducing the expression of ligand, Delta. Consequently, the expression of Wingless effector molecule Armadillo and its downstream targets, Senseless and Vestigial, also gets downregulated. Awh overexpression leads to ectopicexpression of engrailed, a segment polarity gene in the anterior region of wing disc, leading to patterning defects. Additionally, Notch gain-of-function mediated neuronal defects get significantly rescued with Awh overexpression. Activated Notch inhibits Awh activity, suggesting a regulatory loop between Awh and Notch. Additionally, the defects caused by Awh gain-of-function were remarkably rescued by Chip, a LIM interaction domain containing transcriptional co-factor. The present study highlights the novel feedback regulation between Awh and Notch.

developmental biology↗

E3 ubiquitin ligase Deltex facilitates the expansion of Wingless gradient and antagonizes Wingless signaling through a conserved mechanism of transcriptional effector Armadillo/β-catenin degradation

The Wnt/Wg pathway controls myriads of biological phenomena throughout the development and adult life of all organisms across the phyla. Thus, an aberrant Wnt signaling is associated with a wide range of pathologies in humans. Tight regulation of Wnt/Wg signaling is required to maintain proper cellular homeostasis. Here we report a novel role of E3 ubiquitin ligase Deltex in Wg signaling regulation. Drosophila dx genetically interacts with wg and its pathway components. Further, Dx LOF results in a reduced spreading of Wg while its over-expression expands the diffusion gradient of the morphogen. We attribute this change in Wg gradient to the endocytosis of Wg through Dx which directly affects the short and long-range Wg targets. We also demonstrate the role of Dx in regulating Wg effector Armadillo where Dx down-regulates Arm through proteasomal degradation. We also showed the conservation of Dx function in the mammalian system where DTX1 is shown to bind with {beta}-catenin and facilitates its proteolytic degradation, spotlighting a novel step that potentially modulates Wnt/Wg signaling cascade.

developmental biology↗