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

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 attenti...

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Autores principales: Ryu, Hyun-Hee, Kang, Minkyung, Park, Jinsil, Park, Sung-Hye, Lee, Yong-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591896/
https://www.ncbi.nlm.nih.gov/pubmed/31234911
http://dx.doi.org/10.1186/s13041-019-0481-0
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author Ryu, Hyun-Hee
Kang, Minkyung
Park, Jinsil
Park, Sung-Hye
Lee, Yong-Seok
author_facet Ryu, Hyun-Hee
Kang, Minkyung
Park, Jinsil
Park, Sung-Hye
Lee, Yong-Seok
author_sort Ryu, Hyun-Hee
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13041-019-0481-0) contains supplementary material, which is available to authorized users.
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spelling pubmed-65918962019-07-08 Enriched expression of NF1 in inhibitory neurons in both mouse and human brain Ryu, Hyun-Hee Kang, Minkyung Park, Jinsil Park, Sung-Hye Lee, Yong-Seok Mol Brain Micro Report 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13041-019-0481-0) contains supplementary material, which is available to authorized users. BioMed Central 2019-06-24 /pmc/articles/PMC6591896/ /pubmed/31234911 http://dx.doi.org/10.1186/s13041-019-0481-0 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Micro Report
Ryu, Hyun-Hee
Kang, Minkyung
Park, Jinsil
Park, Sung-Hye
Lee, Yong-Seok
Enriched expression of NF1 in inhibitory neurons in both mouse and human brain
title 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_short 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
topic Micro Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591896/
https://www.ncbi.nlm.nih.gov/pubmed/31234911
http://dx.doi.org/10.1186/s13041-019-0481-0
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