Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

PLoS Genet. 2016 Feb 12;12(2):e1005709. doi: 10.1371/journal.pgen.1005709. eCollection 2016 Feb.

Abstract

The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adiposity
  • Alleles
  • Animals
  • Arylsulfotransferase / genetics
  • Arylsulfotransferase / metabolism
  • Behavior, Animal
  • Body Weight
  • Brain / metabolism
  • Brain / physiopathology
  • Chromosome Deletion*
  • Chromosome Duplication / genetics*
  • Chromosomes, Mammalian / genetics
  • Cognition*
  • Craniofacial Abnormalities / genetics
  • Diet, High-Fat
  • Disease Models, Animal
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Gene Rearrangement / genetics
  • Hippocampus / physiopathology
  • Memory
  • Mice, Inbred C57BL
  • Motor Activity
  • Phenotype
  • Synaptic Transmission / genetics
  • Syndrome
  • Weaning

Substances

  • Arylsulfotransferase
  • Sult1a1 protein, mouse

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 YH, 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 programmes “Investissements d’Avenir” labelled ANR-10-IDEX-0002-02, ANR-10-LABX-0030-INRT, ANR-10-INBS-07 PHENOMIN as well as by grants from the Simons Foundation (SFARI274424), the Swiss National Science Foundation (31003A_160203 and CRSII33-133044) to AR, the EU FP7 large-scale integrated project GENCODYS (FP7-COLLABORATION PROJECT-2009-2.1.1‐1/241995) m to YH and MK and the INTERREG offensive Science program to YH. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.