Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Dis Model Mech. 2020 Apr 29;13(4):dmm043877. doi: 10.1242/dmm.043877.
Schizophrenia remains one of the most debilitating human neurodevelopmental disorders, with few effective treatments and striking consequences felt by individuals, communities and society as a whole. As such, there remains a critical need for further investigation into the mechanistic underpinnings of schizophrenia so that novel therapeutic targets can be identified. Because schizophrenia is a highly heritable disorder, genetic risk factors remain an attractive avenue for this research. Given their clear molecular genetic consequences, recurrent microdeletions and duplications, or copy number variants (CNVs), represent one of the most tractable genetic entry points to elucidating these mechanisms. To date, eight CNVs have been shown to significantly increase the risk of schizophrenia. Although rodent models of these CNVs that exhibit behavioral phenotypes have been generated, the underlying molecular mechanisms remain largely elusive. Over the past decades, the zebrafish has emerged as a powerful vertebrate model that has led to fundamental discoveries in developmental neurobiology and behavioral genetics. Here, we review the attributes that make zebrafish exceptionally well suited to investigating individual and combinatorial gene contributions to CNV-mediated brain dysfunction in schizophrenia. With highly conserved genetics and neural substrates, an ever-expanding molecular genetic and imaging toolkit, and ability to perform high-throughput and high-content genetic and pharmacologic screens, zebrafish is poised to generate deep insights into the molecular genetic mechanisms of schizophrenia-associated neurodevelopmental and behavioral deficits, and to facilitate the identification of therapeutic targets.
精神分裂症仍然是人类神经发育障碍中最具致残性的疾病之一,其治疗方法有限,个体、社区和整个社会都受到了显著影响。因此,仍然需要进一步研究精神分裂症的机制基础,以确定新的治疗靶点。由于精神分裂症是一种高度遗传性疾病,遗传风险因素仍然是该研究的一个有吸引力的途径。鉴于其明确的分子遗传后果,反复出现的微缺失和重复,或拷贝数变异(CNVs),是阐明这些机制的最可行的遗传切入点之一。迄今为止,已经有八项 CNV 被证明显著增加了精神分裂症的风险。尽管已经产生了表现出行为表型的这些 CNV 的啮齿动物模型,但潜在的分子机制在很大程度上仍难以捉摸。在过去的几十年中,斑马鱼已成为一种强大的脊椎动物模型,为发育神经生物学和行为遗传学的基本发现做出了贡献。在这里,我们回顾了使斑马鱼非常适合研究个体和组合基因对精神分裂症中 CNV 介导的大脑功能障碍的贡献的特性。斑马鱼具有高度保守的遗传学和神经基质、不断扩展的分子遗传和成像工具包,以及进行高通量和高内涵遗传和药理学筛选的能力,这使其能够深入了解与精神分裂症相关的神经发育和行为缺陷的分子遗传机制,并有助于确定治疗靶点。