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

by Thorsteinsdottir, U , Hippolyte, L , Shaffer, L G , van der Werf, I , Reymond, A , Marshall, C , Loviglio, M N , Deplancke, B , Migliavacca, E , Shen, Y , Waszak, S M , Roberts-Caldeira, I , Giannuzzi, G , Beckmann, J S , Jacquemont, S , Männik, K , Maillard, A M , Leleu, M , Alfaiz, A A , Van Dijck, A , Rosenfeld, J A , Sanlaville, D , Andrieux, J , Rougemont, J , Kooy, R F , Dermitzakis, E T , Gusella, J F , Gheldof, N , Passeggeri, M , Zazhytska, M , Scherer, S W , Thorleifsson, G

in 38/23 / 38/39 / 45/15 / 631/208 / 631/337 / Adolescent / Adult / Aged / Autism / Autism Spectrum Disorder - genetics / Autistic Disorder - genetics / Behavioral Sciences / Biological Psychology / Body Mass Index / Cephalometry / Child / Child, Preschool / Chromatin - metabolism / Chromatin - physiology / Chromosome Deletion / Chromosome Duplication / Chromosome Mapping - methods / Chromosomes / Chromosomes, Human, Pair 16 - genetics / Chromosomes, Human, Pair 16 - physiology / Diagnosis / DNA Copy Number Variations - genetics / Female / Genetic aspects / Genetics & genetic processes / Génétique & processus génétiques / Health aspects / Humans / In Situ Hybridization, Fluorescence / Infant / Intellectual Disability - genetics / Life sciences / Male / Medicine / Medicine & Public Health / Megalencephaly - genetics / Microcephaly - genetics / Middle Aged / Neurosciences / Obesity - genetics / Original / original-article / Pharmacotherapy / Phenotype / Psychiatry / Sciences du vivant

2017

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2017

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2017

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Journal Article

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

Thorsteinsdottir, U,

Hippolyte, L,

Shaffer, L G,

van der Werf, I,

Reymond, A,

Marshall, C,

Loviglio, M N,

Deplancke, B,

Migliavacca, E,

Shen, Y,

Waszak, S M,

Roberts-Caldeira, I,

Giannuzzi, G,

Beckmann, J S,

Jacquemont, S,

Männik, K,

Maillard, A M,

Leleu, M,

Alfaiz, A A,

Van Dijck, A,

Rosenfeld, J A,

Sanlaville, D,

Andrieux, J,

Rougemont, J,

Kooy, R F,

Dermitzakis, E T,

Gusella, J F,

Gheldof, N,

Passeggeri, M,

Zazhytska, M,

Scherer, S W,

Thorleifsson, G

2017

Overview

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.

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Publisher

Nature Publishing Group UK,Nature Publishing Group,Nature

Subject

38/23

/ 38/39

/ 45/15

/ 631/208

/ 631/337

/ Adolescent

/ Adult