title: Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene.
abstract: 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.
authors.affiliation: Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan. sadakata-1024@umin.ac.jp
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Sadakata
authors.forename: Yo
authors.initials: Y
authors.lastname: Shinoda
authors.forename: Megumi
authors.initials: M
authors.lastname: Oka
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Sekine
authors.forename: Teiichi
authors.initials: T
authors.lastname: Furuichi
mesh_terms: D000818:Animals; D001007:Anxiety / Q000209:etiology*; D001321:Autistic Disorder / Q000378:metabolism* / Q000503:physiopathology; D001522:Behavior, Animal; D001921:Brain / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D056915:DNA Copy Number Variations; D004195:Disease Models, Animal; D005106:Exploratory Behavior; D006579:Heterozygote; D008297:Male; D051379:Mice; D008818:Mice, Neurologic Mutants; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism; D021641:Recognition, Psychology; D022142:Secretory Vesicles / Q000378:metabolism; D020178:Sleep Disorders, Circadian Rhythm / Q000209:etiology*; D012919:Social Behavior; D012920:Social Behavior Disorders / Q000209:etiology*; D033921:Vesicular Transport Proteins / Q000235:genetics / Q000378:metabolism*; D014828:Vocalization, Animal
chemical_list: C480975:CAPS2 protein, mouse; D002135:Calcium-Binding Proteins; D009419:Nerve Tissue Proteins; D033921:Vesicular Transport Proteins