Enga Rachel M, Rice Ann C, Weller Pamela, Subler Mark A, Lee Daiyoon, Hall Chelsea P, Windle Jolene J, Beardsley Patrick M, van den Oord Edwin J, McClay Joseph L
Department of Pharmacology and Toxicology, Virginia Commonwealth University, Richmond, VA, USA.
Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Neurosci Lett. 2017 Feb 22;641:26-32. doi: 10.1016/j.neulet.2017.01.044. Epub 2017 Jan 20.
The human ANKS1B gene encodes an activity-dependent effector of post-synaptic signaling. It was recently associated with neuropsychiatric phenotypes in genome-wide studies. While the biological function of ANKS1B has been partly elucidated, its role in behavior is poorly understood. Here, we breed and characterize a full knockout (KO) for murine Anks1b. We found that the homozygous KO genotype was partially lethal, showing significant deviation from expected segregation ratios at weaning. Behaviorally, KOs exhibited no difference in baseline acoustic startle response, but showed deficits in prepulse inhibition (PPI). KOs also exhibited locomotor hyperactivity and increased stereotypy at baseline. Administration of ketamine, a non-competitive NMDA-receptor antagonist, greatly exacerbated locomotor activity in the KOs at lower doses, but genotype groups were almost indistinguishable as dose increased. Stereotypy showed a complex response to ketamine in the KOs, with elevated stereotypy at lower doses and markedly less at high doses, compared to wild type. Our study is the first to probe the behavioral phenotypes associated with ablation of Anks1b. Deficits in PPI, locomotor hyperactivity, elevated stereotypy and altered response to NMDA receptor antagonism are murine behavioral outcomes with translational relevance for psychiatric disorders. These findings are also consistent with the role of Anks1b as an effector of glutamatergic signaling. As an intermediary between post-synaptic receptor stimulation and long-term changes to neuronal protein expression, further investigation of Anks1b is warranted.
人类ANKS1B基因编码一种突触后信号传导的活性依赖性效应器。在全基因组研究中,它最近与神经精神表型相关联。虽然ANKS1B的生物学功能已部分阐明,但其在行为中的作用却知之甚少。在此,我们培育并鉴定了小鼠Anks1b的完全敲除(KO)模型。我们发现纯合KO基因型具有部分致死性,在断奶时显示出与预期分离比例的显著偏差。行为学上,KO小鼠在基线听觉惊吓反应上没有差异,但在预脉冲抑制(PPI)方面表现出缺陷。KO小鼠在基线时还表现出运动亢进和刻板行为增加。给予氯胺酮(一种非竞争性NMDA受体拮抗剂),低剂量时极大地加剧了KO小鼠的运动活性,但随着剂量增加,基因型组之间几乎无法区分。在KO小鼠中,刻板行为对氯胺酮表现出复杂的反应,与野生型相比,低剂量时刻板行为增加,高剂量时则明显减少。我们的研究首次探究了与Anks1b缺失相关的行为表型。PPI缺陷、运动亢进、刻板行为增加以及对NMDA受体拮抗作用的反应改变是与精神疾病具有转化相关性的小鼠行为结果。这些发现也与Anks1b作为谷氨酸能信号传导效应器的作用一致。作为突触后受体刺激与神经元蛋白表达长期变化之间的中介,有必要对Anks1b进行进一步研究。