Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract : Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants
Joint Authors
Ray, Kunal
Sengupta, Mainak
Sarkar, Devroop
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-05-06
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Connexin50 (Cx50) mutations are reported to cause congenital cataract probably through the disruption of intercellular transport in the lens.
Cx50 mutants that undergo mistrafficking have generally been associated with failure to form functional gap junction channels; however, sometimes even properly trafficked mutants were found to undergo similar consequences.
We hereby wanted to elucidate any structural bases of the varied functional consequences of Cx50 missense mutations through in silico approach.
Computational studies have been done based on a Cx50 homology model to assess conservation, solvent accessibility, and 3-dimensional localization of mutated residues as well as mutation-induced changes in surface electrostatic potential, H-bonding, and steric clash.
This was supplemented with meta-analysis of published literature on the functional properties of connexin missense mutations.
Analyses revealed that the mutation-induced critical alterations of surface electrostatic potential in Cx50 mutants could determine their fate in intracellular trafficking.
A similar pattern was observed in case of mutations involving corresponding conserved residues in other connexins also.
Based on these results the trafficking fates of 10 uncharacterized Cx50 mutations have been predicted.
Further experimental analyses are needed to validate the observed correlation.
American Psychological Association (APA)
Sarkar, Devroop& Ray, Kunal& Sengupta, Mainak. 2014. Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract : Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants. BioMed Research International،Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-489441
Modern Language Association (MLA)
Sarkar, Devroop…[et al.]. Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract : Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants. BioMed Research International No. 2014 (2014), pp.1-10.
https://search.emarefa.net/detail/BIM-489441
American Medical Association (AMA)
Sarkar, Devroop& Ray, Kunal& Sengupta, Mainak. Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract : Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-489441
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-489441