World Library  

Add to Book Shelf
Flag as Inappropriate
Email this Book

Plos Genetics : Bms1 is Mutated in Aplasia Cutis Congenita, Volume 9

By Trainor, Paul A.

Click here to view

Book Id: WPLBN0003952811
Format Type: PDF eBook :
File Size:
Reproduction Date: 2015

Title: Plos Genetics : Bms1 is Mutated in Aplasia Cutis Congenita, Volume 9  
Author: Trainor, Paul A.
Volume: Volume 9
Language: English
Subject: Journals, Science, Genetics
Collections: Periodicals: Journal and Magazine Collection (Contemporary), PLoS Genetics
Publication Date:
Publisher: Plos


APA MLA Chicago

Trainor, P. A. (n.d.). Plos Genetics : Bms1 is Mutated in Aplasia Cutis Congenita, Volume 9. Retrieved from

Description : Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 18S rRNA maturation, consistent with a role of BMS1 in processing of prerRNAs of the small ribosomal subunit. Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. Unbiased comparative global transcript and proteomic analyses of ACC fibroblasts with this mutation confirm a central role of increased p21 levels for the ACC phenotype, which are associated with downregulation of heterogenous nuclear ribonucleoproteins (hnRNPs) and serine/arginine-rich splicing factors (SRSFs). Functional enrichment analysis of the proteomic data confirmed a defect in RNA post-transcriptional modification as the top-ranked cellular process altered in ACC fibroblasts. The data provide a novel link between BMS1, the cell cycle, and skin morphogenesis.


Click To View

Additional Books

  • Plos Genetics : Arabidopsis Tfl2, Volume... (by )
  • Plos Genetics : the Jewels of Our Genome... (by )
  • Plos Genetics : Comprehensive Analysis R... (by )
  • Plos Genetics : Structure, Function, and... (by )
  • Plos Genetics : Distinct Type of Transmi... (by )
  • Plos Genetics : Increasing Signal Specif... (by )
  • Plos Genetics : Competitive Repair by Na... (by )
  • Plos Genetics : Genetic Variants in Rec8... (by )
  • Plos Genetics : the Pch2Δmutation in Bak... (by )
  • Plos Genetics : Bub1-mediated Adaptation... (by )
  • Plos Genetics : Detorqueo, Quirky, and Z... (by )
  • Plos Genetics : Comparative Genomics of ... (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.