Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.
Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.
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DOI：
10.1016/j.gep.2009.11.005
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发表时间：
2010-01
期刊：
影响因子：
--
通讯作者：
Hevner RF
中科院分区：
文献类型：
--
作者：
Bedogni F;Hodge RD;Nelson BR;Frederick EA;Shiba N;Daza RA;Hevner RF
自闭症易感候选基因2(AUTS2)是一个与自闭症和智力低下相关的基因，其功能尚不清楚。应用原位杂交、免疫组织化学和Western blotting等方法研究了AUTS2在发育过程中小鼠脑组织中的表达。AUTS2基因在发育中的大脑皮层和小脑、自闭症患者常受神经病变影响的区域以及少数其他脑区高表达。胚胎第12天，AUTS2 mRNA在皮质前板表达，并与Tbr1共定位，Tbr1是有丝分裂后投射神经元的特异性转录因子。从胎龄16d到出生后21d，AUTS2在额叶皮质、海马体和小脑中表达最丰富，包括浦肯野细胞和深核。在发育中的丘脑、嗅球、下丘和黑质也检测到高水平的AUTS2。AUTS2蛋白的区域表达模式与该基因的表达相似。在细胞水平上，AUTS2蛋白定位于神经元和部分神经前体细胞的细胞核中。
Autism susceptibility candidate 2 (Auts2) is a gene associated with autism and mental retardation, whose function is unknown. Expression of Auts2 mRNA and protein were studied in the developing mouse brain by in situ hybridization, immunohistochemistry, and western blotting. Auts2 mRNA was highly expressed in the developing cerebral cortex and cerebellum, regions often affected by neuropathological changes in autism, and a few other brain regions. On embryonic day (E) 12, Auts2 mRNA was expressed in the cortical preplate, where it colocalized with Tbr1, a transcription factor specific for postmitotic projection neurons. From E16 to postnatal day 21, Auts2 was expressed most abundantly in frontal cortex, hippocampus and cerebellum, including Purkinje cells and deep nuclei. High levels of Auts2 were also detected in developing dorsal thalamus, olfactory bulb, inferior colliculus and substantia nigra. Auts2 protein showed similar regional expression patterns as the mRNA. At the cellular level, Auts2 protein was localized in the nuclei of neurons and some neuronal progenitors.
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