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Biology subjects

Marino, S. M.

Publications and source records attributed to Marino, S. M..

4 recordsLinked to original sources

FoldARE, an RNA secondary structure analysis and prediction tool via generative pseudo-SHAPE modeling

RNA secondary structure prediction is limited by conformational heterogeneity and the scarcity of experimental data, as many RNAs populate ensembles of near-isoenergetic folds and SHAPE data are often unavailable. We present FoldARE (Folding and Analysis of RNA Ensembles), a two-step framework that derives pseudo-SHAPE constraints from in silico structural ensembles and uses them to guide SHAPE-aware secondary structure prediction. In the first step, an ensemble is generated and parsed nucleotide by nucleotide to estimate single-strandedness frequencies, which are converted into a pseudo-SHAPE reactivity profile using a weight-and-threshold scheme. In the second step, this profile is provided as a constraint to a SHAPE-compatible folding algorithm to improve the final prediction. We systematically evaluated all combinations of four ensemble-capable predictors, ViennaRNA, RNAstructure, LinearFold and EternaFold. After parameter optimization on a structurally diverse 25-RNA training set and validation using multiple scoring schemes, the best configuration combined EternaFold as ensembler and RNAstructure as predictor. Across external benchmark datasets (RNAstrand, ArchiveII and bpRNA) and the experimentally derived eFold dataset, FoldARE achieved the highest accuracy. Beyond prediction, FoldARE provides modules for ensemble-focused comparative analysis, including pairwise and multi-tool consensus assessment, per-nucleotide variability metrics, and interactive visualizations. Notably, it also supports the evaluation of m6A modification effects on structural ensembles. FoldARE is freely available on GitHub (https://github.com/TebaldiLab/FoldARE) and as a web accessible version (https://rdds.it/foldare/)

bioinformatics↗

Telomeric lncRNA TERRA localizes to stress granules in human ALT cells

TERRA, the lncRNA derived from the ends of chromosomes, has a number of well-described nuclear roles including telomere maintenance and homeostasis. A growing body of evidence now points at its role in human cells outside of nucleus--it has been found to be a component of extracellular vesicles, a player in inflammation signalling and its capacity for translation has been shown. In this work, using a combination of sensitive microscopy methods, cellular fractionation, proteomics and transcriptome analysis, we demonstrate directly for the first time that TERRA is present in the cytoplasm of human telomerase-negative cells, especially upon various stress stimuli, and that it associates with stress granules. Confirming the presence of TERRA in the cytoplasm, our work fills an important gap in the field, and contributes to the discussion about the role of TERRA as a transcript involved in nucleo-cytoplasmic stress communication.

molecular biology↗

A computational strategy for rapid on-site 16S metabarcoding with Oxford Nanopore sequencing

The investigation of microbial communities through nucleotide sequencing has become an essential asset in environmental science, not only for research oriented activities but also for on-site monitoring; one technology, in particular, holds great promises for its application directly in the field: the Oxford Nanopore Technologies (ONT) MinION sequencer is a portable and affordable device, that produces long reads, with a remarkable sequencing output (in terms of bases/hour). One of the most common approaches in microbiological investigations through sequencing is the analysis of the 16S rRNA gene, known as 16S metabarcoding. Only recently the application of MinION has extended to 16S metabarcoding; to date, a limitation is still represented by the available computational protocols: due to the intrinsic, unique features of the technology ONT long reads cannot be adequately analyzed with tools developed for previous technologies (e.g. for Illumina). In this work a computational pipeline, specifically tailored to the usage of ONT reads in 16S metabarcoding, is developed, tested and discussed. This study is particularly addressed to on site evaluations, for environmental investigations or monitoring, where running time, costs and overall efficient usage of resources are particularly important.

genomics↗

Amino acid stylization: a new approach for representing protein sequences and scoring protein alignments

SynopsisThe amino acids (AA) stylization, introduced in this work, is a mean to obtain a qualitative and quantitative description of different AA; the goal is to allow, via a chemically meaningful representation, the analysis of protein similarity in multiple alignments, without any statistical and evolutionary information involved. The AA Stylization Matrix Method (aSMM) has been tested positively with different data sets, in line with most common statistically based approaches (e.g. BLOSUM62), while allowing the exploitation of some unique capabilities, e.g. to be rapidly configured for specific properties that can be (over-, or under-) weighted. Overall, applying ad hoc parameterization aSMM permits a tailored investigation to account for different types of substitutions in protein alignments.

bioinformatics↗