Enriched expression of NF1 in inhibitory neurons in both mouse and human brain
Abstract 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 an...
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doaj-35de0f92238040be90fcdd3008528e4c2020-11-25T03:34:52ZengBMCMolecular Brain1756-66062019-06-011211510.1186/s13041-019-0481-0Enriched expression of NF1 in inhibitory neurons in both mouse and human brainHyun-Hee Ryu0Minkyung Kang1Jinsil Park2Sung-Hye Park3Yong-Seok Lee4Department of Physiology, Seoul National University College of MedicineDepartment of Physiology, Seoul National University College of MedicineDepartment of Physiology, Seoul National University College of MedicineDepartment of Pathology, Seoul National University HospitalDepartment of Physiology, Seoul National University College of MedicineAbstract 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.http://link.springer.com/article/10.1186/s13041-019-0481-0Neurofibromatosis type 1NeurofibrominInhibitory neuronsRAS |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hyun-Hee Ryu Minkyung Kang Jinsil Park Sung-Hye Park Yong-Seok Lee |
spellingShingle |
Hyun-Hee Ryu Minkyung Kang Jinsil Park Sung-Hye Park Yong-Seok Lee Enriched expression of NF1 in inhibitory neurons in both mouse and human brain Molecular Brain Neurofibromatosis type 1 Neurofibromin Inhibitory neurons RAS |
author_facet |
Hyun-Hee Ryu Minkyung Kang Jinsil Park Sung-Hye Park Yong-Seok Lee |
author_sort |
Hyun-Hee Ryu |
title |
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain |
title_short |
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain |
title_full |
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain |
title_fullStr |
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain |
title_full_unstemmed |
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain |
title_sort |
enriched expression of nf1 in inhibitory neurons in both mouse and human brain |
publisher |
BMC |
series |
Molecular Brain |
issn |
1756-6606 |
publishDate |
2019-06-01 |
description |
Abstract 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. |
topic |
Neurofibromatosis type 1 Neurofibromin Inhibitory neurons RAS |
url |
http://link.springer.com/article/10.1186/s13041-019-0481-0 |
work_keys_str_mv |
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