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Partridge, R.

Publications and source records attributed to Partridge, R..

2 recordsLinked to original sources

Mechanism of an alternative splicing switch mediated by cell-specific and general splicing regulators

Alternative pre-mRNA splicing is regulated by RNA binding proteins (RBPs) that activate or repress regulated splice sites. Repressive RBPs bind stably to target RNAs via multivalent interactions, which can be achieved by both homo-oligomerization and by interactions with other RBPs mediated by intrinsically disordered regions (IDRs). Cell-specific splicing decisions commonly involve the action of widely expressed RBPs that can bind around target exons, but without effect in the absence of a key cell-specific regulator. To address how cell-specific regulators collaborate with constitutive RBPs in alternative splicing regulation we used the smooth-muscle specific regulator RBPMS. Recombinant RBPMS is sufficient to switch cell specific alternative splicing of Tpm1 exon 3 in cell free assays by remodelling ribonucleprotein complexes and preventing assembly of ATP-dependent splicing complexes. This activity depends upon its C-terminal IDR, which facilitates dynamic higher-order self-assembly, cooperative binding to multivalent RNA, and interactions with other splicing co-regulators, including MBNL1 and RBFOX2. Our data show how a cell-specific RBP can co-opt more widely expressed regulatory RBPs to facilitate cooperative assembly of stable cell-specific regulatory complexes.

molecular biology↗

Permutational immune analysis reveals architectural similarities between inflammaging, Down syndrome and autoimmunity

People with Down syndrome show cellular and clinical features of dysregulated aging of the immune system, including naive-memory shift in the T cell compartment and increased incidence of autoimmunity. However, a quantitative understanding of how various immune compartments change with age in Down syndrome remains lacking. Here we performed deep immunophenotyping of a cohort of individuals with Down syndrome across the lifespan, selecting for individuals not affected by autoimmunity. We simultaneously interrogated age- and sex-matched healthy neurotypical controls and people with type 1 diabetes, as a representative autoimmune disease. We built a new analytical software, IMPACD, that enabled us to rapidly identify many features of immune dysregulation in Down syndrome that are recapitulated in other autoimmune diseases. We found significant quantitative and qualitative dysregulation of naive CD4+ and CD8+ T cells in Down syndrome and identified IL-6 as a candidate driver of some of these changes, thus extending the consideration of immunopathologic cytokines in Down syndrome beyond interferons. Notably, we successfully used immune cellular composition to generate three quantitative models of aging (i.e. immune clocks) trained on control subjects. All three immune clocks demonstrated significantly advanced immune aging in people with Down syndrome. Notably, one of these clocks, informed by Down syndrome-relevant biology, also showed advanced immune aging in people with type 1 diabetes. Together, our findings demonstrate a novel approach to studying immune aging in Down syndrome which may have implications in the context of other autoimmune diseases. One Sentence SummaryPermutational analysis of immune landscape reveals advanced immune aging in people with Down syndrome and in people with type 1 diabetes.

immunology↗