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A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding functional relationships of interacting proteins in both health and diseases. M...

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Autores principales: Blandin, Gaëlle, Marchand, Sylvie, Charton, Karine, Danièle, Nathalie, Gicquel, Evelyne, Boucheteil, Jean-Baptiste, Bentaib, Azéddine, Barrault, Laetitia, Stockholm, Daniel, Bartoli, Marc, Richard, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610214/
https://www.ncbi.nlm.nih.gov/pubmed/23414517
http://dx.doi.org/10.1186/2044-5040-3-3
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author Blandin, Gaëlle
Marchand, Sylvie
Charton, Karine
Danièle, Nathalie
Gicquel, Evelyne
Boucheteil, Jean-Baptiste
Bentaib, Azéddine
Barrault, Laetitia
Stockholm, Daniel
Bartoli, Marc
Richard, Isabelle
author_facet Blandin, Gaëlle
Marchand, Sylvie
Charton, Karine
Danièle, Nathalie
Gicquel, Evelyne
Boucheteil, Jean-Baptiste
Bentaib, Azéddine
Barrault, Laetitia
Stockholm, Daniel
Bartoli, Marc
Richard, Isabelle
author_sort Blandin, Gaëlle
collection PubMed
description BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding functional relationships of interacting proteins in both health and diseases. METHOD: We undertook a large-scale study using two-hybrid screens and a human skeletal-muscle cDNA library to establish a proteome-scale map of protein-protein interactions centered on proteins involved in limb-girdle muscular dystrophies (LGMD). LGMD is a group of more than 20 different neuromuscular disorders that principally affect the proximal pelvic and shoulder girdle muscles. RESULTS AND CONCLUSION: The interaction network we unraveled incorporates 1018 proteins connected by 1492 direct binary interactions and includes 1420 novel protein-protein interactions. Computational, experimental and literature-based analyses were performed to assess the overall quality of this network. Interestingly, LGMD proteins were shown to be highly interconnected, in particular indirectly through sarcomeric proteins. In-depth mining of the LGMD-centered interactome identified new candidate genes for orphan LGMDs and other neuromuscular disorders. The data also suggest the existence of functional links between LGMD2B/dysferlin and gene regulation, between LGMD2C/γ-sarcoglycan and energy control and between LGMD2G/telethonin and maintenance of genome integrity. This dataset represents a valuable resource for future functional investigations.
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spelling pubmed-36102142013-03-29 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome Blandin, Gaëlle Marchand, Sylvie Charton, Karine Danièle, Nathalie Gicquel, Evelyne Boucheteil, Jean-Baptiste Bentaib, Azéddine Barrault, Laetitia Stockholm, Daniel Bartoli, Marc Richard, Isabelle Skelet Muscle Research BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding functional relationships of interacting proteins in both health and diseases. METHOD: We undertook a large-scale study using two-hybrid screens and a human skeletal-muscle cDNA library to establish a proteome-scale map of protein-protein interactions centered on proteins involved in limb-girdle muscular dystrophies (LGMD). LGMD is a group of more than 20 different neuromuscular disorders that principally affect the proximal pelvic and shoulder girdle muscles. RESULTS AND CONCLUSION: The interaction network we unraveled incorporates 1018 proteins connected by 1492 direct binary interactions and includes 1420 novel protein-protein interactions. Computational, experimental and literature-based analyses were performed to assess the overall quality of this network. Interestingly, LGMD proteins were shown to be highly interconnected, in particular indirectly through sarcomeric proteins. In-depth mining of the LGMD-centered interactome identified new candidate genes for orphan LGMDs and other neuromuscular disorders. The data also suggest the existence of functional links between LGMD2B/dysferlin and gene regulation, between LGMD2C/γ-sarcoglycan and energy control and between LGMD2G/telethonin and maintenance of genome integrity. This dataset represents a valuable resource for future functional investigations. BioMed Central 2013-02-15 /pmc/articles/PMC3610214/ /pubmed/23414517 http://dx.doi.org/10.1186/2044-5040-3-3 Text en Copyright ©2013 Blandin et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Blandin, Gaëlle
Marchand, Sylvie
Charton, Karine
Danièle, Nathalie
Gicquel, Evelyne
Boucheteil, Jean-Baptiste
Bentaib, Azéddine
Barrault, Laetitia
Stockholm, Daniel
Bartoli, Marc
Richard, Isabelle
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title_full A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title_fullStr A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title_full_unstemmed A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title_short A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
title_sort human skeletal muscle interactome centered on proteins involved in muscular dystrophies: lgmd interactome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610214/
https://www.ncbi.nlm.nih.gov/pubmed/23414517
http://dx.doi.org/10.1186/2044-5040-3-3
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