title: Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).
abstract: Collagen V mutations are associated with Elhers-Danlos syndrome (EDS), a group of heritable collagenopathies. Collagen V structure is not available and the disease-causing mechanism is unclear. To address this issue, we manually curated missense mutations suspected to promote classic type EDS (cEDS) insurgence from the literature and performed a genotype-phenotype correlation study. Further, we generated a homology model of the collagen V triple helix to evaluate the pathogenic effects. The resulting structure was used to map known protein-protein interactions enriched with in silico predictions. An interaction network model for collagen V was created. We found that cEDS heterogeneous manifestations may be explained by the involvement in two different extracellular matrix pathways, related to cell adhesion and tissue repair or cell differentiation, growth and apoptosis.
authors.affiliation: Department of Biomedical Sciences and CRIBI Biotechnology Center, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy. Electronic address: lisanna.paladin@gmail.com.
authors.forename: Lisanna
authors.initials: L
authors.lastname: Paladin
authors.affiliation: Department of Biomedical Sciences and CRIBI Biotechnology Center, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy; CNR Institute of Neuroscience, Padova, Italy. Electronic address: silvio.tosatto@unipd.it.
authors.forename: Silvio C E
authors.initials: SC
authors.lastname: Tosatto
authors.affiliation: Department of Biomedical Sciences and CRIBI Biotechnology Center, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy. Electronic address: giovanni.minervini@bio.unipd.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Minervini
mesh_terms: D024062:Collagen Type V / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D019295:Computational Biology / Q000379:methods*; D003198:Computer Simulation; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D010641:Phenotype; D025941:Protein Interaction Mapping / Q000379:methods*; D017434:Protein Structure, Tertiary
chemical_list: D024062:Collagen Type V
keywords: Bioinformatics; Collagen V; Collagenopathies; Ehlers–Danlos Syndrome