NPAS3基因——在精神疾病中发挥作用的新证据。
The NPAS3 gene--emerging evidence for a role in psychiatric illness.
作者信息
Pickard Benjamin S, Pieper Andrew A, Porteous David J, Blackwood Douglas H, Muir Walter J
机构信息
Medical Genetics Section, School of Clinical and Molecular Medicine, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK.
出版信息
Ann Med. 2006;38(6):439-48. doi: 10.1080/07853890600946500.
NPAS3 is a member of the basic helix-loop-helix PAS domain class of transcription factors expressed in the brain. Evidence from a human chromosomal rearrangement and a mouse knock-out strain suggest that it may play a part in the aetiology of psychiatric illness. In this review, we describe evolutionary constraints on the NPAS3 gene, relevant functional studies from a related gene and the behavioural and hippocampal neurogenesis deficit observed in the mutant mouse. In addition, we speculate on the physiological regulation of NPAS3 and whether NPAS3 gene variation contributes to psychiatric illness at the population level.
NPAS3是一种在大脑中表达的转录因子，属于碱性螺旋-环-螺旋PAS结构域类。来自人类染色体重排和小鼠基因敲除品系的证据表明，它可能在精神疾病的病因学中起作用。在这篇综述中，我们描述了NPAS3基因的进化限制、来自相关基因的相关功能研究以及在突变小鼠中观察到的行为和海马神经发生缺陷。此外，我们推测了NPAS3的生理调节以及NPAS3基因变异在人群水平上是否会导致精神疾病。
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