Related Experiment Video
Updated: Jun 14, 2026

07:38
Strategies for Assessing Autistic-Like Behaviors in Mice
Published on: September 20, 2024
Ca(2+)-dependent activator protein for secretion 2 and autistic-like phenotypes
Tetsushi Sadakata1, Teiichi Furuichi
1Laboratory for Molecular Neurogenesis, RIKEN Brain Science Institute, Wako, Saitama 351-0198, Japan. sadakata@brain.riken.jp
Neuroscience Research
|March 23, 2010
Summary
Ca(2+)-dependent activator protein for secretion 2 (CAPS2) deficiency in mice impairs neuronal development and causes autism-like behaviors, suggesting CAPS2
Area of Science:
- Neuroscience
- Molecular Biology
- Genetics
Background:
- Ca(2+)-dependent activator protein for secretion 2 (CAPS2) is crucial for dense-core vesicle (DCV) exocytosis.
- CAPS2 plays a role in the secretion of neurotrophic factors essential for neuronal development and survival.
Purpose of the Study:
- To investigate the role of CAPS2 in neuronal development, survival, and behavior.
- To explore the potential link between CAPS2 dysfunction and autism susceptibility.
Main Methods:
- Generation and analysis of CAPS2 knockout (KO) mice.
- Assessment of neurotrophic factor secretion (BDNF, NT-3).
- Behavioral testing in CAPS2 KO mice (social interaction, activity, sleep, anxiety).
- Analysis of CAPS2 splice variants and single nucleotide polymorphisms (SNPs) in autism patients.
Main Results:
- CAPS2 KO mice exhibit deficits in neuronal development and survival.
- CAPS2 KO mice display abnormal behaviors including impaired social interaction, hyperactivity, disrupted sleep-wake rhythms, and increased anxiety.
- A rare CAPS2 splice variant lacking exon 3, which is not axonally transported, is overexpressed in autism patients; non-synonymous SNPs in CAPS2 are also found in some autistic individuals.
Conclusions:
- CAPS2 is implicated in autism susceptibility due to its role in neurodevelopment and behavior.
- CAPS2 KO mice serve as a valuable model for studying the neuropathology and behavioral characteristics of neurodevelopmental disorders, particularly autism.
Related Concept Videos
Calmodulin-dependent Signaling
Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
Epistasis Analysis
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
RNA Polymerase II Accessory Proteins
Proteins that regulate transcription can do so either via direct contact with RNA Polymerase or through indirect interactions facilitated by adaptors, mediators, histone-modifying proteins, and nucleosome remodelers. Direct interactions to activate transcription is seen in bacteria as well as in some eukaryotic genes. In these cases, upstream activation sequences are adjacent to the promoters, and the activator proteins interact directly with the transcriptional machinery. For example, in...
Master Transcription Regulators
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
Overview of Secretory Vesicles
Secretory vesicles, also known as dense core vesicles (DCVs), are membrane-bound vesicles that transport secretory proteins, such as hormones or neurotransmitters. Regulated secretory vesicles transport proteins from the trans-Golgi network to the exterior of the cell. Proteins present in regulated secretory vesicles are required to be rapidly exocytosed in large amounts upon a specific stimulus.
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...

