World Library  


Add to Book Shelf
Flag as Inappropriate
Email this Book

Plos Genetics : the Polyproline Site in Hinge 2 Influences the Functional Capacity of Truncated Dystrophins, Volume 6

By Cox, Gregory A.

Click here to view

Book Id: WPLBN0003929892
Format Type: PDF eBook :
File Size:
Reproduction Date: 2015

Title: Plos Genetics : the Polyproline Site in Hinge 2 Influences the Functional Capacity of Truncated Dystrophins, Volume 6  
Author: Cox, Gregory A.
Volume: Volume 6
Language: English
Subject: Journals, Science, Genetics
Collections: Periodicals: Journal and Magazine Collection (Contemporary), PLoS Genetics
Historic
Publication Date:
Publisher: Plos

Citation

APA MLA Chicago

Cox, G. A. (n.d.). Plos Genetics : the Polyproline Site in Hinge 2 Influences the Functional Capacity of Truncated Dystrophins, Volume 6. Retrieved from http://worldlibrary.in/


Description
Description : Mutations in dystrophin can lead to Duchenne muscular dystrophy or the more mild form of the disease, Becker muscular dystrophy. The hinge 3 region in the rod domain of dystrophin is particularly prone to deletion mutations. In-frame deletions of hinge 3 are predicted to lead to BMD, however the severity of disease can vary considerably. Here we performed extensive structure-function analyses of truncated dystrophins with modified hinges and spectrin-like repeats in mdx mice. We found that the polyproline site in hinge 2 profoundly influences the functional capacity of a microdystrophinDR4-R23/DCT with a large deletion in the hinge 3 region. Inclusion of polyproline in microdystrophinDR4-R23/DCT led to small myofibers (12% smaller than wild-type), Achilles myotendinous disruption, ringed fibers, and aberrant neuromuscular junctions in the mdx gastrocnemius muscles. Replacing hinge 2 of microdystrophinDR4-R23/DCT with hinge 3 significantly improved the functional capacity to prevent muscle degeneration, increase muscle fiber area, and maintain the junctions. We conclude that the rigid a-helical structure of the polyproline site significantly impairs the functional capacity of truncated dystrophins to maintain appropriate connections between the cytoskeleton and extracellular matrix.

 

Click To View

Additional Books


  • Plos Genetics : Ror2 Enhances Polarity a... (by )
  • Plos Genetics : a Screen for Retrotransp... (by )
  • Plos Genetics : the Secreted Metalloprot... (by )
  • Plos Genetics : Non-coding Changes Cause... (by )
  • Plos Genetics : a Bow-tie Genetic Archit... (by )
  • Plos Genetics : a Genome-wide Associatio... (by )
  • Plos Genetics : Zebrafish Vegf Receptors... (by )
  • Plos Genetics : Gadd45A Does Not Promote... (by )
  • Plos Genetics : Mutator Suppression and ... (by )
  • Plos Genetics : a High-density Admixture... (by )
  • Plos Genetics : Deciphering Normal Blood... (by )
  • Plos Genetics : a Sel1L Mutation Links a... (by )
Scroll Left
Scroll Right

 



Copyright © World Library Foundation. All rights reserved. eBooks from World Library are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.