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Martin, A. J. M.

Publications and source records attributed to Martin, A. J. M..

5 recordsLinked to original sources

RNA-binding proteins and regulatory networks involved in life-stage, stress temperature, and drug resistance in Leishmania parasites

Trypanosomatid parasites of the genus Leishmania rely on post-transcriptional regulation of gene expression because gene transcription is not canonically regulated at the single-gene level. RNA-binding proteins (RBPs) are central to this regulatory architecture, yet their genome-wide diversity, conservation, and condition-specific associations remain incompletely defined across the genus. Here, we combined comparative genomics and systems-level transcriptomic analyses to map the RBP repertoire in 33 strains spanning 19 Leishmania species. We also connect RBPs to developmental, stress, and drug-resistance contexts, using Leishmania braziliensis as an example. Using probabilistic domain detection and homology-based annotation, we identified 38,662 putative RBPs across all genomes, with 1,114 to 1,491 RBPs per genome. Comparative genomics analysis revealed a conserved core of 404 RBP clusters shared across all examined species, alongside lineage-restricted clusters in major Leishmania groups. We notably detected widespread conservation of enzymes linked to messenger RNA modification (for example, NAT10, TRMT6/61A, and NSUN2), but failed to identify canonical N6-methyladenosine writer orthologs, suggesting divergence of this machinery across Leishmania genomes. In L. braziliensis, expression profiling in different life-cycle stages and stress conditions highlighted stage-biased RBPs, including elevated ZC3H20 in amastigotes and increased RBP6 in metacyclic promastigotes. Finally, co-expression network analysis of trivalent antimony (SbIII) resistant genotypes identified RBPs co-expressed with genes previously associated with antimony resistance. In contrast, motif-based analysis supported a putative DRBD3-centered post-transcriptional module that includes 10 candidate stabilized transcripts in SbIII-resistant promastigotes. Together, these results provide a comparative framework to prioritize RBPs and associated regulatory programs implicated in parasite adaptation and antimony resistance. AUTHOR SUMMARYLeishmaniasis results from infection by Leishmania parasites and remains challenging to control due to limited treatments and the continual emergence of drug resistance, especially to antimonials. These parasites exhibit an unusual gene regulation method; instead of activating or deactivating transcription for individual genes, they depend heavily on proteins that bind RNA to determine which messages are retained, translated, or degraded. In this study, we created a comprehensive atlas of RNA-binding proteins across the Leishmania genus by analyzing 33 parasite strains from 19 species. We identified a large core set of conserved RNA-binding proteins shared by all species, along with lineage-specific proteins that may help different parasite groups adapt to various hosts and environments. Additionally, we mapped enzymes responsible for RNA chemical modifications and found that the typical machinery for m6A marks in many organisms appears to be divergent in Leishmania. Finally, by associating RNA-binding proteins with specific life-cycle stages, stress responses, and antimony resistance in L. braziliensis, we pinpointed candidate regulators and gene modules for further experimental validation. This resource helps prioritize regulatory factors that could drive parasite adaptation and resistance.

genomics↗

Transcriptional and Histone acetylation changes associated with CRE elements expose key factors governing the regulatory circuit in early stage of Huntington's disease models.

Huntingtons disease (HD) is a disorder caused by an abnormal expansion of trinucleotide CAG repeats within the huntingtin (Htt) gene. Under normal conditions, the CREB Binding Protein interacts with CREB elements and acetylates Lysine 27 of Histone 3 to direct the expression of several genes. However, mutant Htt causes depletion of CBP which in turn induces altered histone acetylation patterns and transcriptional deregulation. Here, we have studied differential expression analysis and H3K27ac variation in 4- and 6-week-old R6/2 mice as a model of juvenile HD. Analysis of differential gene expression and acetylation levels were integrated into Gene Regulatory Networks revealing key regulators involved in the altered transcription cascade. Our results show changes in acetylation and gene expression levels that are related to impaired neuronal development and key regulators clearly defined in 6-week-old mice are proposed to drive the downstream regulatory cascade in HD. Here we describe the first approach to determine the relationship among epigenetic changes in the early stages of HD. We determined the existence of changes in pre-symptomatic stages of HD, a starting point for early onset indicators of the progression of this disease.

genomics↗

Random Forest approach for the identification of relationships between epigenetic marks and its application to robust assignment of chromatin states

Structural changes of chromatin modulate access to DNA for all proteins involved in transcription. These changes are linked to variations in epigenetic marks that allow to classify chromatin in different functional states depending on the pattern of these marks. Importantly, alterations in chromatin states are known to be linked with various diseases. For example, there are abnormalities in epigenetic patterns in different types of cancer. For most of these diseases, there is not enough epigenomic data available to accurately determine chromatin states for the cells affected in each of them, mainly due to high costs of performing this type of experiments but also because of lack of a sufficient amount of sample or degradation thereof. In this work we describe a cascade method based on a random forest algorithm to infer epigenetic marks, and by doing so, to reduce the number of experimentally determined marks required to assign chromatin states. Our approach identified several relationships between patterns of different marks, which strengthens the evidence in favor of a redundant epigenetic code.

genomics↗

Comparative and systems analyses of Leishmania spp. non-coding RNAs through developmental stages

Leishmania spp. is the etiological agent of leishmaniases, neglected diseases that seek to be eradicated in the coming years. The life cycle of these parasites involve different host and stress environments. In recent years, many studies have shown that several protein coding genes are directly involved with the development and host interactions, however, little is still known about the role of ncRNAs in life cycle progression. In this study, we aimed to identify the genomic structure and function of ncRNAs from Leishmania spp. and to get insights into the RNAome of this protozoan genus. We studied 26 strains corresponding to 16 different species of Leishmania. Our RNAome analysis revealed the presence of several ncRNAs that are shared through different species, allowing us to differentiate between subgenus as well as species that are canonically related to visceral leishmaniasis. We also studied co-expression relationships between coding genes and ncRNAs which in the amastigote developmental stage for Leishmania braziliensis and L. donovani revealed the presence of miRNA-like co-expressed with several coding genes involved in starvation, survival and histone modification. This work constitutes the first effort to characterize the Leishmania RNAome, supporting further approaches to better understand the role of ncRNAs in the gene regulation, infective process and host-parasite interaction.

genomics↗

Enforced dimerization between XBP1s and ATF6f enhances the protective effects of the unfolded protein response (UPR) in models of neurodegeneration

Alteration to endoplasmic reticulum (ER) proteostasis is observed on a variety of neurodegenerative diseases associated with abnormal protein aggregation. Activation of the unfolded protein response (UPR) enables an adaptive reaction to recover ER proteostasis and cell function. The UPR is initiated by specialized stress sensors that engage gene expression programs through the concerted action of the transcription factors ATF4, ATF6f, and XBP1s. Although UPR signaling is generally studied as unique linear signaling branches, correlative evidence suggests that ATF6f and XBP1s may physically interact to regulate a subset of UPR-target genes. Here, we designed an ATF6f-XBP1s fusion protein termed UPRplus that behaves as a heterodimer in terms of its selective transcriptional activity. Cell-based studies demonstrated that UPRplus has stronger an effect in reducing the abnormal aggregation of mutant huntingtin and alpha-synuclein when compared to XBP1s or ATF6 alone. We developed a gene transfer approach to deliver UPRplus into the brain using adeno-associated viruses (AAVs) and demonstrated potent neuroprotection in vivo in preclinical models of Parkinsons and Huntingtons disease. These results support the concept where directing UPR-mediated gene expression toward specific adaptive programs may serve as a possible strategy to optimize the beneficial effects of the pathway in different disease conditions.

neuroscience↗