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

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34 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)836-849
Numero di pagine14
RivistaMolecular Psychiatry
Stato di pubblicazionePubblicato - 2017


  • Adolescent
  • Adult
  • Aged
  • Autism Spectrum Disorder
  • Autistic Disorder
  • Body Mass Index
  • Cellular and Molecular Neuroscience
  • Child
  • Child, Preschool
  • Chromatin
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16
  • DNA Copy Number Variations
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability
  • Male
  • Megalencephaly
  • Microcephaly
  • Middle Aged
  • Molecular Biology
  • Obesity
  • Phenotype
  • Psychiatry and Mental Health


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