Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
28 10 2021
Historique:
received: 10 04 2020
accepted: 05 10 2021
entrez: 29 10 2021
pubmed: 30 10 2021
medline: 31 12 2021
Statut: epublish

Résumé

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the STX5 mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine and Stx5 Short (Stx5S) from an alternative starting methionine at position 55. In this study, we identify a human disorder caused by a single missense substitution in the second starting methionine (p.M55V), resulting in complete loss of the short isoform. Patients suffer from an early fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation. Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking. Measurements of cognate binding SNAREs, based on biotin-synchronizable forms of Stx5 (the RUSH system) and Förster resonance energy transfer (FRET), revealed that the short isoform of Stx5 is essential for intra-Golgi transport. Alternative starting codons of Stx5 are thus linked to human disease, demonstrating that the site of translation initiation is an important new layer of regulating protein trafficking.

Identifiants

pubmed: 34711829
doi: 10.1038/s41467-021-26534-y
pii: 10.1038/s41467-021-26534-y
pmc: PMC8553859
doi:

Substances chimiques

Protein Isoforms 0
Qa-SNARE Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

6227

Informations de copyright

© 2021. The Author(s).

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Auteurs

Peter T A Linders (PTA)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Eveline C F Gerretsen (ECF)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Angel Ashikov (A)

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Mari-Anne Vals (MA)

Children's Clinic, Tartu University Hospital, Tartu, Estonia.
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Rinse de Boer (R)

Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Groningen, The Netherlands.

Natalia H Revelo (NH)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Richard Arts (R)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Melissa Baerenfaenger (M)

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Fokje Zijlstra (F)

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Karin Huijben (K)

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Kimiyo Raymond (K)

Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN, USA.

Kai Muru (K)

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Olga Fjodorova (O)

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Sander Pajusalu (S)

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Katrin Õunap (K)

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Martin Ter Beest (M)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

Dirk Lefeber (D)

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands. dirk.lefeber@radboudumc.nl.
Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands. dirk.lefeber@radboudumc.nl.

Geert van den Bogaart (G)

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands. g.van.den.bogaart@rug.nl.
Department of Molecular Immunology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, 9747 AG, Groningen, The Netherlands. g.van.den.bogaart@rug.nl.

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