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Pozzoli, U.

Publications and source records attributed to Pozzoli, U..

5 recordsLinked to original sources

KDM: embedding DNA/RNA motifs and sequences in a shared k-mer space for unified discovery, analysis and binding prediction

Motif discovery and binding-site prediction in DNA and RNA sequences are central tasks in regulatory genomics, yet the methodological landscape is split between interpretable but rigid position weight matrices (PWMs) and high-performing but opaque machine-learning models. We present KDM, a unifying framework in which both motifs and sequences are represented as probability distributions over a shared k-mer dictionary, embedded via the Hellinger transformation. This common geometry enables motif-sequence scoring, motif-motif comparison, de novo discovery, and binding prediction with a single primitive, the Bhattacharyya coefficient. We instantiate four tools on this representation: KDMMap for positional enrichment analysis, KDMMatch for information-content-aware motif matching, KDMFind for unsupervised motif discovery via projective non-negative matrix factorization, and KDM-LRLM for binding prediction with Lasso-regularized logistic regression. Across 1,324 transcription-factor ChIP-seq and 161 RBP eCLIP experiments, KDMMap matches CentriMos motif rankings in 84% of TF and 79% of RBP experiments, and KDMMatch agrees with Tomtom on motif annotation in 74.5% of TFs. On binding prediction across four datasets covering 2,475 experiments, KDM-LRLM matches or exceeds eight deep-learning and three k-mer-based competitors. Notably, AI methods overtake k-mer methods only in the top quartile of training-set size, indicating that data scale, not architecture, drives the recent dominance of deep models. KDM provides a single interpretable representation across the full motif-analysis workflow.

bioinformatics↗

RNAMaRs: an interpretable framework for inferring multivalent RNA Motifs and cognate Regulators of Splicing

Alternative splicing expands proteomic diversity and is shaped by interactions between RNA-binding proteins (RBPs) and multivalent RNA motifs. Linking sequence elements to regulatory proteins remains difficult from sequence information alone. Here we present RNAMaRs, a interpretable statistical framework that combines motif discovery with in vivo binding and splicing responses to infer motif-RBP relationships. RNAMaRs learns RBP binding principles, weights signal quality, and optimizes motif discovery in an RBP-specific manner. Across ENCODE datasets RNAMaRs consistently prioritizes the perturbed regulator, especially for large splicing effects. Independent validation in prostate cancer cells recapitulates HNRNPK binding signatures, supporting transferability across an unseen cellular context.

molecular biology↗

Genomic clustering and sequence context of mutations in human monkeypox virus (hMPXV1) genomes

The ongoing worldwide monkeypox outbreak is caused by viral lineages (globally referred to as hMPXV1) that are related to but distinct from clade IIb MPXV viruses transmitted in Nigeria. Analysis of genetic differences indicated that APOBEC-mediated editing might be responsible for the unexpectedly high number of mutations observed in hMPXV1 genomes. Here, using 1624 hMPXV1 publicly available sequences, we analyzed mutations that accrued since 2017 until the emergence of the current predominant variant (B.1), as well as those that that have been accumulating during the 2022 outbreak. We found that substitutions tend to cluster and mutational hot-spots are observed. Investigation of the sequence context of C to T changes indicated a preference for 5-TCA/G-3 motifs, suggesting APOBEC3F- or APOBEC3A-mediated editing. The sequence context has remained unchanged since 2017, indicating that the same mutational mechanism that is driving the accumulation of substitutions during the ongoing human-to-human transmission, was already operating before the virus left Africa. We suggest that APOBEC3A is the most likely candidate, given its expression in the skin and its known role in the editing of human papillomavirus.

genomics↗

Simplexviruses successfully adapt to their host by fine-tuning immune responses

Primate herpes simplex viruses are relatively harmless to their natural hosts, whereas cross-species transmission can result in severe disease. We performed a genome-wide scan for signals of adaptation of simplexviruses to hominins. We found evidence of positive selection in three glycoproteins, with selected sites located in antigenic determinants. Positively selected non-core proteins were involved in different immune-escape mechanisms. By expressing mutants of one of these proteins (ICP47), we show that the amino acid status at the positively selected sites is sufficient to induce HLA-G. HSV-1/HSV-2 ICP47 induced HLA-G when mutated to recapitulate residues in B virus, whereas the mutated version of B virus ICP47 failed to determine HLA-G expression. Thus, the evolution of ICP47 in HSV-1/HSV-2 determined the loss of an immunosuppressive effect, suggesting that simplexviruses tune immune responses to promote successful co-existence with their hosts. These results also help explain the high pathogenicity of B virus in humans.

microbiology↗

Antigenic variation of SARS-CoV-2 in response to immune pressure

The ongoing evolution of SARS-CoV-2 is expected to be at least partially driven by the selective pressure imposed by the human immune system. We exploited the availability of a large number of high-quality SARS-CoV-2 genomes, as well as of validated epitope predictions, to show that B cell epitopes in the spike glycoprotein (S) and in the nucleocapsid protein (N) have higher diversity than non-epitope positions. Similar results were obtained for other human coronaviruses. Conversely, in the SARS-CoV-2 population, epitopes for CD4+ and CD8+ T cells were not more variable than non-epitope positions. A significant reduction in epitope variability was instead observed for some of the most immunogenic proteins (S, N, ORF8, and ORF3a). Analysis over longer evolutionary time-frames indicated that this effect is not due to differential constraints. These data indicate that SARS-CoV-2 is evolving to elude the host humoral immune response, whereas recognition by T cells might benefit the virus.

microbiology↗