Mis-spliced transcripts generate

Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
23 Jan 2023
Historique:
pubmed: 8 2 2023
medline: 8 2 2023
entrez: 7 2 2023
Statut: epublish

Résumé

Functional loss of TDP-43, an RNA-binding protein genetically and pathologically linked to ALS and FTD, leads to inclusion of cryptic exons in hundreds of transcripts during disease. Cryptic exons can promote degradation of affected transcripts, deleteriously altering cellular function through loss-of-function mechanisms. However, the possibility of

Identifiants

DOI: 10.1101/2023.01.23.525149 PMID: 36747793 PMC: PMC9900763
pubmed: 36747793
doi: 10.1101/2023.01.23.525149
pmc: PMC9900763
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : Medical Research Council
ID : MC_PC_MR/S022708/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S006508/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : RF1 NS120992
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS123743
Pays : United States
Organisme : Medical Research Council
ID : MR/W005190/1
Pays : United Kingdom

Déclaration de conflit d'intérêts

Competing interests: MAN, ZL, and SIS’s participation in this project was part of a competitive contract awarded to Data Tecnica International LLC by the National Institutes of Health to support open science research. MAN also currently serves as an advisor for Character Biosciences and Neuron23 Inc.

Auteurs

Sahba Seddighi (S)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Yue A Qi (YA)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Anna-Leigh Brown (AL)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Oscar G Wilkins (OG)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
The Francis Crick Institute, London, UK.

Colleen Bereda (C)

Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Cedric Belair (C)

Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA.

Yongjie Zhang (Y)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Mercedes Prudencio (M)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Matthew J Keuss (MJ)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Aditya Khandeshi (A)

Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA.

Sarah Pickles (S)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Sarah E Hill (SE)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

James Hawrot (J)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Daniel M Ramos (DM)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Hebao Yuan (H)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Jessica Roberts (J)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Erika Kelmer Sacramento (E)

Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany.

Syed I Shah (SI)

Data Tecnica International, Washington, DC, USA.

Mike A Nalls (MA)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.
Data Tecnica International, Washington, DC, USA.

Jenn Colon-Mercado (J)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Joel F Reyes (JF)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Veronica H Ryan (VH)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Matthew P Nelson (MP)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Casey Cook (C)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Ziyi Li (Z)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.
Data Tecnica International, Washington, DC, USA.

Laurel Screven (L)

Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Justin Y Kwan (JY)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Anantharaman Shantaraman (A)

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.

Lingyan Ping (L)

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.

Yuka Koike (Y)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Björn Oskarsson (B)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Nathan Staff (N)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Duc M Duong (DM)

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.

Aisha Ahmed (A)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Maria Secrier (M)

Department of Genetics, Evolution and Environment, UCL Genetics Institute, UCL, London, UK.

Jerneg Ule (J)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Steven Jacobson (S)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

Jonathan Rohrer (J)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Andrea Malaspina (A)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Jonathan D Glass (JD)

Department of Neurology, Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, USA.

Alessandro Ori (A)

Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany.

Nicholas T Seyfried (NT)

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.

Manolis Maragkakis (M)

Laboratory of Genetics and Genomics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA.

Leonard Petrucelli (L)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.

Pietro Fratta (P)

UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Michael E Ward (ME)

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.

Classifications MeSH