Laboratory of Integrative Bioscience, Graduate School of Biomedical Sciences, Hiroshima University, 1-2-3 Kasumi, Minami, Hiroshima, 734-8553, Japan,
J Neurodev Disord. 2011 Sep;3(3):270-81. doi: 10.1007/s11689-011-9088-1. Epub 2011 Jul 26.
Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11-q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11-q13 is also known to include imprinting genes. In terms of neuroscience, it contains interesting genes such as Necdin, Ube3a, and a cluster of GABA(A) subunits as well as huge clusters of non-coding RNAs (small nucleolar RNAs, snoRNAs). Phenotypic analyses of mice genetically or chromosomally engineered for each gene or their clusters on a region of mouse chromosome seven syntenic to human 15q11-q13 indicate that this region may be involved in social behavior, serotonin metabolism, and weight control. Further studies using these models will provide important clues to the pathophysiology of autism. This review overviews phenotypes of mouse models of genes in 15q11-q13 and their relationships to autism.
自闭症是一种神经发育障碍，在儿童时期表现为社交行为异常，如社交互动异常、沟通障碍、兴趣或行为受限。在已知的自闭症病因中，人类 15q11-q13 染色体重复是最常见的与细胞遗传学异常相关的原因。15q11-q13 染色体也包含印迹基因。在神经科学方面，它包含有趣的基因，如 Necdin、Ube3a 和 GABA(A)亚基簇，以及大量非编码 RNA（小核仁 RNA、snoRNA）。对每个基因或其在与人类 15q11-q13 同源的小鼠染色体 7 区域上的基因簇进行基因遗传或染色体工程改造的小鼠的表型分析表明，该区域可能参与社交行为、血清素代谢和体重控制。使用这些模型的进一步研究将为自闭症的病理生理学提供重要线索。本文综述了 15q11-q13 区域基因的小鼠模型的表型及其与自闭症的关系。
