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Int. J. Mol. Sci. 2015, 16(7), 15985-15996; doi:10.3390/ijms160715985

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure

1
Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia
2
Hunter Area Pathology Service, Pathology NORTH, New Lambton Heights, NSW 2305, Australia
*
Author to whom correspondence should be addressed.
Academic Editor: Guillermo T. Sáez
Received: 28 April 2015 / Revised: 31 May 2015 / Accepted: 29 June 2015 / Published: 14 July 2015
(This article belongs to the Special Issue DNA Damage and Repair in Degenerative Diseases 2014)
View Full-Text   |   Download PDF [1762 KB, uploaded 14 July 2015]   |  

Abstract

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion synthesis, POLH. The clinical symptoms and severity of the disease is varied across the subgroups, which does not correlate with the functional position of the affected protein in the NER pathway. The aim of this study was to further understand the biology of XP subgroups, particularly those that manifest with neurological symptoms. Whole genome gene expression profiling of fibroblasts from each XP complementation group was assessed before and after UV-light exposure. The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation. Patients from the subgroups XP-B and XP-F were the only subgroups to have transcripts associated with neuronal activity altered after UV-light exposure. This study will assist in furthering our understanding of the different subtypes of XP which will lead to better diagnosis, treatment and management of the disease. View Full-Text
Keywords: xeroderma pigmentosum; transcriptome; gene expression profile; UV; nucleotide excision repair xeroderma pigmentosum; transcriptome; gene expression profile; UV; nucleotide excision repair
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Bowden, N.A.; Beveridge, N.J.; Ashton, K.A.; Baines, K.J.; Scott, R.J. Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. Int. J. Mol. Sci. 2015, 16, 15985-15996.

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