Scolnick Edward M, Petryshen Tracey, Sklar Pamela
Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge 02139, USA.
Harv Rev Psychiatry. 2006 Mar-Apr;14(2):64-77. doi: 10.1080/10673220600642960.
The sequencing of the human genome and an emerging dense map of markers across the human genome have spawned new approaches to search for risk genes for human diseases with complex genetics. These approaches are particularly relevant to the search for risk genes for bipolar disorder and schizophrenia. A gene called neuregulin 1 has been reported to be a risk gene for schizophrenia. This article reviews aspects of the genetics, cellular neurobiology, and biochemistry of neuregulin 1 and attempts to integrate several observations from disparate fields into a model for the pathogenesis of schizophrenia. The model outlines experimental approaches that may, in the future, shed more light on its validity.
人类基因组测序以及一张不断涌现的人类基因组密集标记图谱催生了新方法，用于寻找具有复杂遗传因素的人类疾病的风险基因。这些方法对于寻找双相情感障碍和精神分裂症的风险基因尤为相关。据报道，一种名为神经调节蛋白1的基因是精神分裂症的风险基因。本文综述了神经调节蛋白1的遗传学、细胞神经生物学和生物化学方面的内容，并试图将来自不同领域的若干观察结果整合到一个精神分裂症发病机制模型中。该模型概述了一些实验方法，这些方法未来可能会进一步揭示其有效性。
