The awareness of genome complexity brought a radical approach to the study of transcriptome, opening eyes to single RNAs generated from two or more adjacent genes according to the present consensus. This kind of transcript was thought to originate only from chromosomal rearrangements, but the discovery of readthrough transcription opens the doors to a new world of fusion RNAs. In the last years many possible intergenic cis-splicing mechanisms have been proposed, unveiling the origins of transcripts that contain some exons of both the upstream and downstream genes. In some cases, alternative mechanisms, such as trans-splicing and transcriptional slippage, have been proposed. Five databases, containing validated and predicted Fusion Transcripts of Adjacent Genes (FuTAGs), are available for the scientific community. A comparative analysis revealed that two of them contain the majority of the results. A complete analysis of the more widely characterized FuTAGs is provided in this review, including their expression pattern in normal tissues and in cancer. Gene structure, intergenic splicing patterns and exon junction sequences have been determined and here reported for well-characterized FuTAGs. The available functional data and the possible roles in cancer progression are discussed.

Prenatal exposure to endocrine-disrupting chemicals (EDCs) may impact postnatal growth trajectories, increasing the risk of various diseases later in life. This issue is of particular concern in industrially contaminated areas, where environmental matrices contain mixtures of pollutants. This study aimed to evaluate the associations between cord serum concentrations of organochlorine pollutants (hexachlorobenzene-HCB and polychlorinated biphenyls-PCBs) and essential elements (EEs), and weight growth trajectories during the first year of life. We analyzed data from 237 infants enrolled in the Neonatal Environment and Health Outcomes (NEHO) cohort. Using the Group-Based Multivariate Trajectory modeling approach, we identified three distinct growth trajectories from birth to 12 months, classified as "Higher," "Normal," and "Lower." Multinomial regression models were then applied to the whole sample and stratified by sex to assess the associations between individual exposures and the identified child growth trajectories. HCB exposure was associated with an increased risk of reduced growth during the first year of life in both the overall sample and among males [higher vs normal: OR_Male = 0.33 (95 % CI_Male:0.12;0.87); lower vs normal: OR_Male = 2.17 (95 % CI_Male:0.94;5.00)]. Conversely, PCB-180 exposure was linked to higher growth only in females [higher vs normal: OR_Female = 24.10 (95 % CI_Female:1.33;438.24)]. Elevated levels of selenium in cord serum were negatively associated with excessive growth [higher vs normal: OR_Overall = 0.50 (95 % CI_Overall: 0.26;0.97)]. These findings suggest sex-specific effects on the growth profile during the first year of life, with different chemical exposures contributing to different outcomes.

Eating disorders (EDs) are complex medical conditions that primarily affect adolescents. In Italy, EDs are becoming a serious health concern, but the lack of up-to-date epidemiological data makes it difficult to assess their real impact across the country. Early identification of risk factors is crucial for timely intervention. A multicenter cross-sectional survey was conducted among 1,740 students aged 14–16 years in Sicily. Data on socio-demographic factors, EDs behaviors, social media usage, body appreciation, and bullying were collected through an electronic questionnaire. Regression models were used to test the role of gender and interaction effects with key risk factors. Based on Eating Disorder Examination-Questionnaire (EDE-Q) scores, 72.8% of participants were classified as “not at risk”, 17.9% as “at risk” and 9.3% as “at higher risk” of developing EDs using gender-related cut-offs. Girls were overrepresented in the at-risk and higher-risk groups (p < 0.01). Analysis revealed that lower Body Appreciation Scale (BAS) scores, higher BMI, and body comparison on social media predicted higher EDE-Q scores (p < 0.01). Gender interacted with several risk factors, including body appreciation (ß = 0.30. p < 0.01), alcohol use (ß = − 0.14, p < 0.01), and the perceived impact of the COVID-19 pandemic (ß = − 0.06, p < 0.05), with females showing stronger associations. This study highlights the increasing concern about EDs among Italian adolescents and emphasizes the need for targeted screening and early intervention. Understanding the interplay between gender, body image, and social behaviors is key to preventing EDs mitigating their long-term consequences.

KDM2B is a JmjC domain lysine demethylase, which promotes cell immortalization, stem cell self-renewal and tumorigenesis. Here we employed a multi-omics strategy to address its role in ribosome biogenesis and mRNA translation. These processes are required to sustain cell proliferation, an important cancer hallmark. Contrary to earlier observations, KDM2B promotes ribosome biogenesis by stimulating the transcription of genes encoding ribosome biogenesis factors and ribosomal proteins, particularly those involved in the biogenesis of the 40S ribosomal subunits. Knockdown of KDM2B impaired the assembly of the small and large subunit processomes, as evidenced by specific defects in pre-ribosomal RNA processing. The final outcome was a decrease in the rate of ribosome assembly and in the abundance of ribosomes, and inhibition of mRNA translation. The inhibition of translation was distributed unequally among mRNAs with different features, suggesting that mRNA-embedded properties influence how mRNAs interpret ribosome abundance. This study identified a novel mechanism contributing to the regulation of translation and provided evidence for a rich biology elicited by a pathway that depends on KDM2B, and perhaps other regulators of translation.

Human exposure to environmental contaminants typically involves complex mixtures rather than single chemicals, complicating health risk assessment. In this study, we investigated the effects of 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) and estrone (E1), individually and in combination (MIX-3), on immune and intestinal epithelial cells. Murine macrophages (RAW 264.7) exposed to BDE-47, E1, or MIX-3 showed no cytotoxicity or oxidative stress at the tested concentrations. However, MIX-3 significantly increased inflammatory gene expression (TNF-α, IL-6, IL-10) and cytokine secretion (TNF-α), suggesting a synergistic immune-activating effect. Intracellular miRNA profiling revealed downregulation of immune-regulatory miRNAs (let-7a-5p, miR-423-5p, let-7c-5p, miR-128-3p), supporting activation of inflammatory and cytokine-related pathways. In Caco-2 cells, MIX-3 exposure reduced tight junction markers (E-cadherin, occludin) and transepithelial electrical resistance, indicating impaired epithelial barrier function, whereas treatment with conditioned medium from MIX-3-exposed macrophages partially restored E-cadherin expression, suggesting a protective role of immune cell-derived soluble factors. To validate these findings in vivo, Wistar rats were orally exposed to the BDE-47/E1 mixture for 30 days. mRNA analysis and histological examination of intestinal tissue highlighted occludin downregulation and mild tissue alterations, consistent with subtle epithelial barrier impairment. Circulating miRNA profiling showed upregulation of inflammation-associated miRNAs (miR-21-5p, miR-150-5p, miR-142-3p, miR-363-3p), linked through bioinformatic analysis to immune dysregulation, intestinal cancer, and neurotoxicity. Overall, these results indicate that low-dose exposure to pollutant mixtures can induce subtle but biologically relevant immune and epithelial changes, emphasizing the importance of mixture-based approaches in environmental risk assessment.