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

By Trainor, Paul A.

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Book Id: WPLBN0003952811
Format Type: PDF eBook :
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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
Historic
Publication Date:
Publisher: Plos

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


Description
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.

 

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