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Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.

The aim of this work is to investigate the heavy-metals uptake properties of a dried biomass coming from plant (green algae and leaves of marine macro-phytes) pick up on the shore of a polluted wetland Bio-sorption has been carried out taking into consideration a solution containing metal nitrates (10 mg/l of Cd, Zr, Pb, Cu and Ni + 1 mg/l of Hg in distilled water) with initial pH values between 5 and 9. Experimental results has shown that, in a batch system (solution/biomass = 1/1 in weight) fast metal sorption occurs. Total metal-uptake capacity of the biomass was of 0.54 mMol/g dry weight. Hg has been used as indicator of total metal uptake. After contact for 15 minutes ($\rm pH = 5\div7$) about 70% of initial Hg bas been extracted. Regeneration of the biomass after sorption has been considered for refuse: a HCI solution has been adopted starting from different initial pH. It has been pointed out that regeneration by HCI leaching occurs in a proper and effective way at a pH value at least two points lower than that the sorption pH. Regenerating with HCI solution at pH = 2 allows de-sorption of more than 30% of sorbed metals.

The value of information greatly increases if stored in databases. The objective was to construct a multi-purpose database system primarily designed to store and provide access to three-dimensional structures of biological molecules including theoretical models.