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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Eugenia Migliavacca1, Christelle Golzio2, Katrin Männik3
1Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
American Journal of Human Genetics
|May 5, 2015
Summary
Copy-number variants at 16p11.2 are linked to autism and schizophrenia. These genetic changes disrupt ciliopathy genes, potentially causing neurodevelopmental and brain structure abnormalities.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- 16p11.2 copy-number variants (CNVs) are common genetic causes of autism spectrum disorders (ASDs) and schizophrenia.
- These CNVs are associated with mirrored phenotypes in body mass index (BMI), head circumference, and brain volume.
Purpose of the Study:
- To investigate the transcriptomic changes in individuals with reciprocal 16p11.2 CNVs.
- To explore the role of ciliary dysfunction in the pathologies associated with 16p11.2 CNVs.
Main Methods:
- Transcriptome analysis of individuals with 16p11.2 CNVs.
- Analysis of mouse models with 16p11.2 duplications.
- Utilizing a zebrafish model to study genetic interactions with ciliopathy genes.
Main Results:
- Transcript perturbations correlated with clinical endophenotypes and were enriched for ASD, head size, and ciliopathy genes.
- Ciliary gene expression was altered in mouse models, and structural ciliary defects were observed in the hippocampus.
- Genetic interactions between KCTD13 and ciliopathy genes (BBS7, CEP290) were demonstrated in a zebrafish model, with rescue of phenotypes.
Conclusions:
- Dysregulation of ciliopathy genes contributes to the clinical phenotypes observed in 16p11.2 CNVs.
- Ciliary dysfunction is a potential mechanism underlying the neuroanatomical and head size abnormalities associated with 16p11.2 CNVs.
- KCTD13 plays a key role in mediating these phenotypes, interacting with ciliopathy pathways.
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