Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association

Abstract TDP-43, a nucleocytoplasmic shuttle protein consisting of 414 residues, forms self-association in the nucleus for physiological gene regulation, while aggregation into amyloid (consisting of aberrant β-sheets) in the cytoplasm causes neurodegenerative diseases such as amyotrophic lateral sc...

Full description

Saved in:
Bibliographic Details
Main Authors: Daisuke Sasaki, Mao Tenda, Youhei Sohma
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Communications Chemistry
Online Access:https://doi.org/10.1038/s42004-025-01522-1
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850170882038693888
author Daisuke Sasaki
Mao Tenda
Youhei Sohma
author_facet Daisuke Sasaki
Mao Tenda
Youhei Sohma
author_sort Daisuke Sasaki
collection DOAJ
description Abstract TDP-43, a nucleocytoplasmic shuttle protein consisting of 414 residues, forms self-association in the nucleus for physiological gene regulation, while aggregation into amyloid (consisting of aberrant β-sheets) in the cytoplasm causes neurodegenerative diseases such as amyotrophic lateral sclerosis. Post-translational phosphorylation of TDP-43 alters the self-association properties, which affects both the physiological function in the nucleus and the amyloidogenic potential in the cytoplasm, thereby impacting upon disease progression. However, insight into the role of per-residue phosphorylation in the self-association remains limited due to the difficulty in obtaining site-specifically phosphorylated TDP-43. Here, we demonstrate semi-synthesis of full-length TDP-43 that is uniformly phosphorylated at the 48th serine residue (designated as TDP1-414[pS48]). The synthetic scheme consisting of native chemical ligation followed by His-tag affinity chromatography efficiently gave TDP1-414(pS48) with a high purity. Interestingly, unlike non-phosphorylated TDP-43, the phosphorylated TDP-43 was found to have weak self-association property and to form aggregates that were not typical amyloid fibrils. Furthermore, chemical synthesis and three-dimensional structure analysis of the N-terminal domain (NTD, corresponding to TDP1-80) suggested that the phosphate ion at Ser48 weakens the inter-NTD interaction by inducing electrostatic repulsion. It significantly advances understanding of the pathological mechanisms involved in the post-translational modifications of TDP-43 associated with the neurodegenerative diseases.
format Article
id doaj-art-640a2ed1dafa4423829558c43f3a8532
institution OA Journals
issn 2399-3669
language English
publishDate 2025-04-01
publisher Nature Portfolio
record_format Article
series Communications Chemistry
spelling doaj-art-640a2ed1dafa4423829558c43f3a85322025-08-20T02:20:23ZengNature PortfolioCommunications Chemistry2399-36692025-04-018111010.1038/s42004-025-01522-1Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-associationDaisuke Sasaki0Mao Tenda1Youhei Sohma2Department of Medicinal Chemistry, School of Pharmaceutical Sciences, Wakayama Medical UniversityDepartment of Medicinal Chemistry, School of Pharmaceutical Sciences, Wakayama Medical UniversityDepartment of Medicinal Chemistry, School of Pharmaceutical Sciences, Wakayama Medical UniversityAbstract TDP-43, a nucleocytoplasmic shuttle protein consisting of 414 residues, forms self-association in the nucleus for physiological gene regulation, while aggregation into amyloid (consisting of aberrant β-sheets) in the cytoplasm causes neurodegenerative diseases such as amyotrophic lateral sclerosis. Post-translational phosphorylation of TDP-43 alters the self-association properties, which affects both the physiological function in the nucleus and the amyloidogenic potential in the cytoplasm, thereby impacting upon disease progression. However, insight into the role of per-residue phosphorylation in the self-association remains limited due to the difficulty in obtaining site-specifically phosphorylated TDP-43. Here, we demonstrate semi-synthesis of full-length TDP-43 that is uniformly phosphorylated at the 48th serine residue (designated as TDP1-414[pS48]). The synthetic scheme consisting of native chemical ligation followed by His-tag affinity chromatography efficiently gave TDP1-414(pS48) with a high purity. Interestingly, unlike non-phosphorylated TDP-43, the phosphorylated TDP-43 was found to have weak self-association property and to form aggregates that were not typical amyloid fibrils. Furthermore, chemical synthesis and three-dimensional structure analysis of the N-terminal domain (NTD, corresponding to TDP1-80) suggested that the phosphate ion at Ser48 weakens the inter-NTD interaction by inducing electrostatic repulsion. It significantly advances understanding of the pathological mechanisms involved in the post-translational modifications of TDP-43 associated with the neurodegenerative diseases.https://doi.org/10.1038/s42004-025-01522-1
spellingShingle Daisuke Sasaki
Mao Tenda
Youhei Sohma
Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
Communications Chemistry
title Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
title_full Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
title_fullStr Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
title_full_unstemmed Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
title_short Semi-synthesis of TDP-43 reveals the effects of phosphorylation in N-terminal domain on self-association
title_sort semi synthesis of tdp 43 reveals the effects of phosphorylation in n terminal domain on self association
url https://doi.org/10.1038/s42004-025-01522-1
work_keys_str_mv AT daisukesasaki semisynthesisoftdp43revealstheeffectsofphosphorylationinnterminaldomainonselfassociation
AT maotenda semisynthesisoftdp43revealstheeffectsofphosphorylationinnterminaldomainonselfassociation
AT youheisohma semisynthesisoftdp43revealstheeffectsofphosphorylationinnterminaldomainonselfassociation