作者
Maria Nicla Loviglio, Marion Leleu, K Männik, Marzia Passeggeri, Giuliana Giannuzzi, I Van Der Werf, Sebastian M Waszak, M Zazhytska, I Roberts-Caldeira, N Gheldof, E Migliavacca, AA Alfaiz, L Hippolyte, AM Maillard, A Van Dijck, RF Kooy, D Sanlaville, JA Rosenfeld, LG Shaffer, J Andrieux, C Marshall, SW Scherer, Y Shen, JF Gusella, Unnur Thorsteinsdottir, G Thorleifsson, ET Dermitzakis, B Deplancke, JS Beckmann, J Rougemont, S Jacquemont, A Reymond
发表日期
2017/6
期刊
Molecular Psychiatry
卷号
22
期号
6
页码范围
836-849
出版商
Nature Publishing Group
简介
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 …
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MN Loviglio, M Leleu, K Männik, M Passeggeri… - Molecular Psychiatry, 2017