Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene.

Tetsushi Sadakata, Yo Shinoda, Megumi Oka, Yukiko Sekine, Teiichi Furuichi

Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan. sadakata-1024@umin.ac.jp

FEBS letters 2013 Jan 4

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Ca²⁺-dependent activator protein for secretion 2 (CAPS2 or CADPS2) facilitates secretion and trafficking of dense-core vesicles. Recent genome-wide association studies of autism have identified several microdeletions due to copy number variation (CNV) in one of the chromosome 7q31.32 alleles on which the locus for CAPS2 is located in autistic patients. To evaluate the biological significance of reducing CAPS2 copy number, we analyzed CAPS2 heterozygous mice. Our present findings suggest that adequate levels of CAPS2 protein are critical for normal brain development and behavior, and that allelic changes due to CNV may contribute to autistic symptoms in combination with deficits in other autism-associated genes. Copyright © 2012 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

Citation

Tetsushi Sadakata, Yo Shinoda, Megumi Oka, Yukiko Sekine, Teiichi Furuichi. Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene. FEBS letters. 2013 Jan 4;587(1):54-9