World Library  

Add to Book Shelf
Flag as Inappropriate
Email this Book

Plos Biology : Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles, Volume 4

By Liu, Edison

Click here to view

Book Id: WPLBN0003925477
Format Type: PDF eBook :
File Size:
Reproduction Date: 2015

Title: Plos Biology : Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles, Volume 4  
Author: Liu, Edison
Volume: Volume 4
Language: English
Subject: Journals, Science, Biology
Collections: Periodicals: Journal and Magazine Collection, PLoS Biology
Publication Date:
Publisher: Plos


APA MLA Chicago

Liu, E. (n.d.). Plos Biology : Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles, Volume 4. Retrieved from

Description : Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following : (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii) differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of ‘‘null’’ alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.


Click To View

Additional Books

  • Plos Biology : the Assembly of Diverse I... (by )
  • Plos Biology : Doing Science in Uncertai... (by )
  • Plos Biology : the Testis-specific Facto... (by )
  • Plos Biology : Recognizing Student Misco... (by )
  • Plos Biology : Domain Swapping in Allost... (by )
  • Plos Biology : a Point Mutation in the H... (by )
  • Plos Biology : the Homeobox Protein Ceh-... (by )
  • Plos Biology : Axonal Signaling Proteins... (by )
  • Plos Biology : Direct Observation of Atp... (by )
  • Plos Biology : Genome-wide Rnai of C. El... (by )
  • Plos Biology : in E. Coli, Interrupting ... (by )
  • Plos Biology : Rare Variants Create Synt... (by )
Scroll Left
Scroll Right


Copyright © World Library Foundation. All rights reserved. eBooks from World eBook 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.