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Biology subjects

Javeed, N.

Publications and source records attributed to Javeed, N..

4 recordsLinked to original sources

Pervasive noise in human splice site selection

RNA splicing has historically been thought to be highly efficient and accurate, with little opportunity for deviation from regulated alternative splicing decisions. This dogma has been challenged by recent observations that suggest that biological noise may contribute substantially to transcriptome diversity. However, quantitative understanding of stochastic variations in splicing is challenging because these transcripts are likely subject to rapid degradation. Here, we use ultra-deep sequencing across RNA compartments to track splicing intermediates in human cells and see abundant cryptic splicing associated with genomic features that promote splicing noise. We observe pervasive usage of low-fidelity splice sites, likely due to stochasticity in recruitment or binding of the spliceosome. These sites are most likely degraded in the nucleus rather than targeted by translation-dependent degradation processes, suggesting widespread surveillance and rapid quality control of non-productive RNA transcripts. Our findings provide unprecedented insights into the propensity for error in RNA processing mechanisms and the regulation of alternative splice sites across a gene.

genomics↗

Lipotoxicity Induces Beta Cell Small Extracellular Vesicle-mediated Beta Cell Dysfunction

Chronically elevated circulating excess free fatty acids (i.e. lipotoxicity) is a pathological process implicated in several metabolic disorders, including obesity-driven Type 2 diabetes (T2D). Lipotoxicity exerts detrimental effects on pancreatic islet {beta}-cells by reducing glucose-stimulated insulin secretion (GSIS), altering {beta}-cell transcriptional identity, and promoting apoptosis. While {beta}-cell-derived small extracellular vesicles (sEV) have been shown to contribute to {beta}-cell failure in T2D, their specific role in lipotoxicity-mediated {beta}-cell failure remains to be elucidated. In this work, we demonstrate that lipotoxicity enhances the release of sEVs from {beta}-cells, which exhibit altered proteomic and lipidomic profiles. These lipotoxic sEV induce {beta}-cell dysfunction in healthy mouse and human islets and trigger significant islet transcriptional changes, including the upregulation of genes associated with the TGF{beta}/Smad3 pathway, as noted by RNA sequencing. Importantly, pharmacological inhibition of the TGF{beta}I/II receptor improved lipotoxic sEV-induced {beta}-cell dysfunction, underscoring their involvement in activating the TGF{beta}/Smad3 pathway during this process. We have comprehensively characterized lipotoxic {beta}-cell sEVs and implicated their role in inducing {beta}-cell functional failure in T2D. These findings highlight potential avenues for therapeutic interventions targeting sEV-mediated pathways to preserve {beta}-cell health in metabolic disorders. Article HighlightsO_LIDiabetogenic lipotoxic conditions enhance {beta}-cell sEV release and induce alterations in both protein and lipid content. C_LIO_LIGlobal islet transcriptional changes and alterations in {beta}-cell function were noted upon exposure to lipotoxic sEV. C_LIO_LILipotoxic sEV were shown to activate the TGF{beta}/Smad3 pathway and blockade of this pathway improved {beta}-cell function. C_LI

molecular biology↗

Precision Cas9 Genome Editing in vivo with All-in-one, Self-targeting AAV Vectors

Adeno-associated virus (AAV) vectors are important delivery platforms for therapeutic genome editing but are severely constrained by cargo limits, especially for large effectors like Cas9s. Simultaneous delivery of multiple vectors can limit dose and efficacy and increase safety risks. The use of compact effectors has enabled single-AAV delivery of Cas9s with 1-3 guides for edits that use end-joining repair pathways, but many precise edits that correct disease-causing mutations in vivo require homology-directed repair (HDR) templates. Here, we describe single-vector, [~]4.8-kb AAV platforms that express Nme2Cas9 and either two sgRNAs to produce segmental deletions, or a single sgRNA with an HDR template. We also examine the utility of Nme2Cas9 target sites in the vector for self-inactivation. We demonstrate that these platforms can effectively treat two disease models [type I hereditary tyrosinemia (HT-I) and mucopolysaccharidosis type I (MPS-I)] in mice. These results will enable single-vector AAVs to achieve diverse therapeutic genome editing outcomes.

molecular biology↗

Pro-inflammatory cytokines disrupt β-cell circadian clocks in diabetes

Intrinsic {beta}-cell circadian clocks are a prerequisite for the control of glucose homeostasis through regulation of {beta}-cell function and turnover. However, little is known about the contributions of circadian clock disruption to the natural progression of {beta}-cell failure in diabetes. To address this, we examined the effects of cytokine-mediated inflammation, common to the pathophysiology of Type 1 and Type 2 diabetes, on the physiological, molecular, and epigenetic regulation of circadian clocks in {beta}-cells. Specifically, we provide evidence that the key diabetogenic cytokine IL-1{beta} disrupts functionality of the {beta}-cell circadian clock and circadian regulation of insulin secretion through impaired expression of the key transcription factor Bmal1, evident at the level of promoter activation, mRNA, and protein expression. Additionally, IL-1{beta}-mediated inflammation was shown to augment genome-wide DNA-binding patterns of Bmal1 (and its heterodimer, Clock) in {beta}-cells towards binding sites in the proximity of genes annotated to pathways regulating {beta}-cell apoptosis, inflammation, and dedifferentiation. Finally, we identified that the development of hyperglycemia in humans is associated with compromised {beta}-cell BMAL1 expression suggestive of a causative link between circadian clock disruption and {beta}-cell failure in diabetes.

cell biology↗