Enriched expression of NF1 in inhibitory neurons in both mouse and human brain

Molecular Brain

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[1] 0000 0001 0302 820X, grid.412484.f, Department of Pathology, Seoul National University Hospital, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Neuroscience Research Institute, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Physiology, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0001 0789 9563, grid.254224.7, Department of Life Science, Chung-Ang University, 06974, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Physiology, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Biomedical Sciences, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Physiology, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Biomedical Sciences, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Neuroscience Research Institute, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Department of Physiology, Seoul National University College of Medicine, 03080, Seoul, Korea;0000 0004 0470 5905, grid.31501.36, Neuroscience Research Institute, Seoul National University College of Medicine, 03080, Seoul, Korea;

关键词: Neurofibromatosis type 1;    Neurofibromin;    Inhibitory neurons;    RAS;   

DOI  :  10.1186/s13041-019-0481-0

来源: publisher

【 摘 要 】

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS. NF1 affects multiple systems including brain and is highly associated with cognitive deficits such as learning difficulties and attention deficits. Previous studies have suggested that GABAergic inhibitory neuron is the cell type primarily responsible for the learning deficits in mouse models of NF1. However, it is not clear how NF1 mutations selectively affect inhibitory neurons in the central nervous system. In this study, we show that the expression level of Nf1 is significantly higher in inhibitory neurons than in excitatory neurons in mouse hippocampus and cortex by using in situ hybridization. Furthermore, we also found that NF1 is enriched in inhibitory neurons in the human cortex, confirming that the differential expressions of NF1 between two cell types are evolutionarily conserved. Our results suggest that the enriched expression of NF1 in inhibitory neurons may underlie inhibitory neuron-specific deficits in NF1.

【 授权许可】

CC BY