Tdp-43 cryptic exons are highly variable between cell types
- Authors
- Jeong, Yun Ha; Ling, Jonathan P.; Lin, Sophie Z.; Donde, Aneesh N.; Braunstein, Kerstin E.; Majounie, Elisa; Traynor, Bryan J.; LaClair, Katherine D.; Lloyd, Thomas E.; Wong, Philip C.
- Issue Date
- Feb-2017
- Publisher
- BMC
- Keywords
- TDP-43-Nonconserved cryptic exons; Bioinformatics; Amyotrophic lateral sclerosis; Frontotemporal dementia; Inclusion body myositis
- Citation
- MOLECULAR NEURODEGENERATION, v.12
- Journal Title
- MOLECULAR NEURODEGENERATION
- Volume
- 12
- URI
- http://scholarworks.bwise.kr/kbri/handle/2023.sw.kbri/833
- DOI
- 10.1186/s13024-016-0144-x
- ISSN
- 1750-1326
- Abstract
- Background: TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM). Our recent finding that TDP-43 represses nonconserved cryptic exons led us to ask whether cell type-specific cryptic exons could exist to impact unique molecular pathways in brain or muscle. Methods: In the present work, we investigated TDP-43's function in various mouse tissues to model disease pathogenesis. We generated mice to conditionally delete TDP-43 in excitatory neurons or skeletal myocytes and identified the cell type-specific cryptic exons associated with TDP-43 loss of function. Results: Comparative analysis of nonconserved cryptic exons in various mouse cell types revealed that only some cryptic exons were common amongst stem cells, neurons, and myocytes; the majority of these nonconserved cryptic exons were cell type-specific. Conclusions: Our results suggest that in human disease, TDP-43 loss of function may impair cell type-specific pathways.
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Collections - 연구본부 > 퇴행성 뇌질환 연구그룹 > 1. Journal Articles
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