Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul.

Abstract

Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21.31 syntenic region; and 3) a heterozygous Kansl1 (Kans1+/-) model. We found altered weight, general activity, social behaviors, object recognition, and fear conditioning memory associated with craniofacial and brain structural changes observed in both Del/+ and Dup/+ animals. By investigating hippocampus function, we showed synaptic transmission defects in Del/+ and Dup/+ mice. Mutant mice with a heterozygous loss-of-function mutation in Kansl1 displayed similar behavioral and anatomical phenotypes compared to Del/+ mice with the exception of sociability phenotypes. Genes controlling chromatin organization, synaptic transmission and neurogenesis were upregulated in the hippocampus of Del/+ and Kansl1+/- animals. Our results demonstrate the implication of KANSL1 in the manifestation of KdVS phenotypes and extend substantially our knowledge about biological processes affected by these mutations. Clear differences in social behavior and gene expression profiles between Del/+ and Kansl1+/- mice suggested potential roles of other genes affected by the 17q21.31 deletion. Together, these novel mouse models provide new genetic tools valuable for the development of therapeutic approaches.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Animals
  • Body Weight
  • Brain / metabolism
  • Brain / ultrastructure
  • Chromosome Deletion
  • Chromosome Duplication / genetics*
  • Chromosome Structures / genetics
  • Chromosome Structures / metabolism
  • Chromosomes, Human, Pair 17 / genetics
  • Cognition*
  • DNA Copy Number Variations
  • Disease Models, Animal
  • Epigenesis, Genetic
  • Female
  • Gene Deletion
  • Gene Rearrangement
  • Hippocampus / metabolism
  • Intellectual Disability / genetics*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Neuronal Plasticity / genetics
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Synaptic Transmission / genetics
  • Up-Regulation

Substances

  • KANSL1 protein, mouse
  • Nuclear Proteins

Supplementary concepts

  • Chromosome 17q21.31 Deletion Syndrome

Grants and funding

This work has been supported by the National Centre for Scientific Research (CNRS), the French National Institute of Health and Medical Research (INSERM), the University of Strasbourg (UDS), the “Centre Européen de Recherche en Biologie et en Médecine”, the European commission (AnEUploidy project to YHe, LSHG-CT-2006-037627) with a fellowship from the “Fondation pour la Recherche Médicale” to TA (FDT20130928080). This study also received support from French state funds through the “Agence Nationale de la Recherche” under the frame programme Investissements d’Avenir labelled ANR-10-IDEX-0002-02, ANR-10-LABX-0030-INRT, ANR-10-INBS-07 PHENOMIN, from the EU FP7 large-scale integrated project GENCODYS (grant 241995) to YHe, MK and HGS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.