Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice.
Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice.
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DOI：
10.1093/hmg/ddp086
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发表时间：
2009-05
影响因子：
3.5
通讯作者：
Go Suzuki;Kathryn M. Harper;T. Hiramoto;Takehito Sawamura;Moonsook Lee;Gina Kang;K. Tanigaki;Mahálah R. Buell;M. Geyer;W. Trimble;S. Agatsuma;N. Hiroi
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文献类型：
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作者：
Go Suzuki;Kathryn M. Harper;T. Hiramoto;Takehito Sawamura;Moonsook Lee;Gina Kang;K. Tanigaki;Mahálah R. Buell;M. Geyer;W. Trimble;S. Agatsuma;N. Hiroi
人类染色体22q11.2的缺失或重复与许多行为特征和神经精神障碍有关，包括自闭症谱系障碍和精神分裂症。然而，为什么表型在具有相同的22q11.2缺失或重复的个体之间差异很大，以及哪些特定的22q11.2基因导致这些表型仍然知之甚少。以前的研究已经确定了一个约200 kb的22q11.2区域，有助于小鼠的行为表型。我们测试了Septin 5（Sept5）的作用，这是一种编码在大约200 kb区域的基因，在情感行为，认知能力和运动活动中的作用。为了评估遗传背景对Sept5缺乏症行为表型的影响，我们使用了两种遗传背景的小鼠。我们的数据表明，Sept5缺陷减少亲和的积极的社会互动，但这种表型表达的遗传背景的影响。与此相反，Sept5缺乏减少焦虑相关的行为，增加前脉冲抑制和延迟收购奖励目标的做法，独立的遗传背景。这些数据表明，Sept5缺陷发挥多效性的影响，一组选择的情感行为和认知过程，遗传背景可以提供一个上位性的表型表达的影响。
Deletion or duplication of the human chromosome 22q11.2 is associated with many behavioral traits and neuropsychiatric disorders, including autism spectrum disorders and schizophrenia. However, why phenotypes vary widely among individuals with identical deletions or duplications of 22q11.2 and which specific 22q11.2 genes contribute to these phenotypes are still poorly understood. Previous studies have identified a approximately 200 kb 22q11.2 region that contributes to behavioral phenotypes in mice. We tested the role of Septin 5 (Sept5), a gene encoded in the approximately 200 kb region, in affective behaviors, cognitive capacities and motor activity. To evaluate the impact of genetic backgrounds on behavioral phenotypes of Sept5 deficiency, we used mice on two genetic backgrounds. Our data show that Sept5 deficiency decreased affiliative active social interaction, but this phenotypic expression was influenced by genetic backgrounds. In contrast, Sept5 deficiency decreased anxiety-related behavior, increased prepulse inhibition and delayed acquisition of rewarded goal approach, independent of genetic background. These data suggest that Sept5 deficiency exerts pleiotropic effects on a select set of affective behaviors and cognitive processes and that genetic backgrounds could provide an epistatic influence on phenotypic expression.