20 research outputs found

    Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

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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.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84

    Second-home owners and sea-level rise: the case of the Languedoc- Roussillon region (France)

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    International audienceMunicipalities of the Languedoc-Roussillon region (South-eastern France) arehighly vulnerable to climate-change-induced sea-level rise (SLR) due to theirlow altitude and the great attractiveness of the region for tourism. Thisattractiveness has resulted in a very significant development of second homes,which represent half of the housing stock and three quarters of the total capacityfor tourism hospitality. In the context of climate change adaptation measuresrelated to SLR, it is imperative to consider the perceptions of second-homeowners and their place in local governance arrangements. Scientists advocate theimplementation of managed retreat policies to reduce vulnerability by reducingthe exposure of buildings, but both the social acceptability and the economicfeasibility of these policies are very low. We assume that second-home ownershave different perceptions of the risk of inundation and are less involved in thegovernance mechanisms. It is very difficult to mobilise a large number of ownersof small flats who are less concerned with, and less likely to contribute to, policydevelopment, due to their less frequent presence. We studied these issuesthrough a survey in three municipalities, based on a sample of 318 residents and163 second-home owners faced with inundation risk. We observed a lowersensitivity to risk and a stronger attachment to homes on the part of secondhomeowners (compared to residents). We also discuss, in terms of equity andefficiency, the impact of their low level of engagement in governance mechanisms
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