10 research outputs found
Correction to: Microplastics in seawater: sampling strategies, laboratory methodologies, and identification techniques applied to port environment
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D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans
The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene
Baseline evaluation of metal contamination in teleost fishes of the Gulf of Tigullio (north-western Italy): Histopathology and chemical analysis
Metals, whether essential (Cu, Zn, Cr, Fe, Mn) or non-essential (Al, As, Cd, Ni, Pb, Hg) for organism metabolism,
occur naturally in the marine environment and their abundance can increase due to the presence of human
activities. In this study, fish were used as bio-indicators, to determine a correlation between the bio-accumulation
of metals in muscle and gill tissues and the health status of fish. The study area was the Gulf of Tigullio
(north-western Italy), which is impacted by various sources of metal contamination. Histopathology served as a
significant tool to investigate possible alterations in gills, one of the main organs involved in fish physiology.
Results highlighted some correlations between certain metals (e.g. Pb, Ni) and gill alterations (e.g. epithelial
hyperplasia, epithelial lifting), providing baseline data from a pool of different fish species, which can be used
for comparison purposes in further studies
Land-use modifications and ecological implications over the past 160 years in the central Apennine mountains
Today’s Mediterranean landscapes result from the interaction between ecosystems and anthropogenic activities. This study aims to assess how the land-use changes between the mid-nineteenth and end of the twentieth century influenced the temporal continuity of the ecosystems in central Apennines (central Italy). Information was acquired from Gregorian cadastral maps, orthophotos and aerial photos (1850, 1954, 1980 and 2010), digitised and georeferenced using QGIS 3.10.1 software. Marked changes in land-use types were found. From 1850 to 1954, grasslands were widely transformed into arable lands, but in the next 60 years they changed again into new grasslands and forests. Forests underwent a slow but continuous expansion from 1850 to 2010. Only a small percentage of the forest and grassland patches (14 and 16%, respectively) have seen ecological continuity. These considerations call attention to temporal continuity of ecosystems, together with the historical dynamism of landscapes, in defining land management and nature conservation policies
A Novel Collection of snRNA-Like Promoters with Tissue-Specific Transcription Properties
We recently identified a novel dataset of snRNA-like trascriptional units in
the human genome. The investigation of a subset of these elements showed that they
play relevant roles in physiology and/or pathology. In this work we expand our
collection of small RNAs taking advantage of a newly developed algorithm able to
identify genome sequence stretches with RNA polymerase (pol) III type 3 promoter
features thus constituting putative pol III binding sites. The bioinformatic analysis of a
subset of these elements that map in introns of protein-coding genes in antisense
configuration suggest their association with alternative splicing, similarly to other
recently characterized small RNAs. Interestingly, the analysis of the transcriptional
activity of these novel promoters shows that they are active in a cell-type specific manner,
in accordance with the emerging body of evidence of a tissue/cell-specific activity of
pol III
Polycomb dysregulation in gliomagenesis targets a Zfp423-dependent differentiation network
Malignant gliomas constitute one of the most significant areas of unmet medical need, owing to the invariable failure of surgical eradication and their marked molecular heterogeneity. Accumulating evidence has revealed a critical contribution by the Polycomb axis of epigenetic repression. However, a coherent understanding of the regulatory networks affected by Polycomb during gliomagenesis is still lacking. Here we integrate transcriptomic and epigenomic analyses to define Polycomb-dependent networks that promote gliomagenesis, validating them both in two independent mouse models and in a large cohort of human samples. We find that Polycomb dysregulation in gliomagenesis affects transcriptional networks associated with invasiveness and de-differentiation. The dissection of these networks uncovers Zfp423 as a critical Polycomb-dependent transcription factor whose silencing negatively impacts survival. The anti-gliomagenic activity of Zfp423 requires interaction with the SMAD proteins within the BMP signalling pathway, pointing to a novel synergic circuit through which Polycomb inhibits BMP signalling