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

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

MEASURMENTS OF ABSOLUTE NUMBER DENSITY PROFILES OF SPECIES IN LOW-PRESSURE FLAMES BY ABSORPTION SPECTROSCOPY AND BY FLUORESCENCE

Author Institution:A number of works has been devoted to the measurement of excited species concentration in flames by emission spectroscopy. Since the pioneering work of KASKAN of OH, only a few laboratories are involved in measurement by absorption spectroscopy. This paper presents the measurements of OH, CN, NH number density profiles in a low pressure (25 torrs) methane-oxygen flat flame, doped with 6 % $NH_{3}$. The first part deals with experiments performed with a conventional device: continuous light source and analysis of the absorption spectra with a mospatial resolution only a single path in the 7 cm dia flame is used. It is shown that an actual spatial resolution needed. Total absorption Mitchell-Zemansky’s procedure is used to obtain the populations of some rotational levels ; then rotational temperatures can be deduced. Good agreement is found between the rotational temperatures profile and the translational one. The second part of the paper presents a comparison of OH number density profiles measured in the flame with the previous device and with absorption measurement, and induced fluorescence measurement performed with tunable pulsed laser. In these experiments the spectreal analysis is made by the laser itself, spatial resolution and detect ability limits are improved

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: A Case Report.

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Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.

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