Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual.

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Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability Hassan Vahidnezhad, Razieh Karamzadeh, Amir Hossein Saeidian, Leila Youssefian, Soheila Sotoudeh, Sirous Zeinali, Mohammad Vasei, Fatemeh Golnabi, Taghi Baghdadi, Jouni Uitto Journal of Investigative Dermatology Volume 137, Issue 2, Pages 525-528 (February 2017) DOI: 10.1016/j.jid.2016.10.007 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Clinical features, homozygosity mapping, and in silico analysis of the consequences of the p.Ala189Val mutation in PYCR1. (a) Family pedigree and clinical characteristics; (b) histopathology, and mutation analysis of PYCR1 in the proband (lower panel) and in a heterozygous parent (upper panel) in consanguineous extended family (scale bars = 50 μm and 20 μm for the left and right histopathology slides, respectively); (c) genome-wide SNP-based homozygosity mapping identified candidate genes for mutation analysis; (d) front and (e) top view of the pentameric assembly of the PYCR1 complex; (f) a subset of wild-type intersubunit salt-bridge interactions (magenta dashed line) of pentameric protein that are specifically diminished in mutant form throughout the MD simulation; (g) wild-type and (h) mutant interaction energies between adjacent subunits of pentameric PYCR1; (i) pairwise distance distribution of residue 189 of adjacent subunits in mutant and wild-type pentameric form during the MD trajectories. MD, molecular dynamics; PYCR1, pyrroline-5-carboxylate reductase; SNP, single-nucleotide polymorphism. Journal of Investigative Dermatology 2017 137, 525-528DOI: (10.1016/j.jid.2016.10.007) Copyright © 2016 The Authors Terms and Conditions