Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene
Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene
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CAPS2/CADPS2 基因拷贝数变异的小鼠模型中的自闭症样行为表型
DOI：
10.1016/j.febslet.2012.10.047
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发表时间：
2013
期刊：
影响因子：
3.5
通讯作者：
Furuichi T.
中科院分区：
文献类型：
--
作者：
Sadakata T;Shinoda Y;Oka M;Sekine Y;Furuichi T.
Ca2+依赖性分泌激活蛋白2 （CAPS2或CADPS2）促进致密核囊泡的分泌和运输。最近的自闭症全基因组关联研究发现，在自闭症患者中，CAPS2位点所在的染色体7q31.32等位基因之一的拷贝数变异（CNV）导致了几个微缺失。为了评估减少CAPS2拷贝数的生物学意义，我们分析了CAPS2杂合小鼠。我们目前的研究结果表明，足够水平的CAPS2蛋白对正常的大脑发育和行为至关重要，并且由CNV引起的等位基因改变可能与其他自闭症相关基因的缺陷一起导致自闭症症状。
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.