{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:07:17Z","timestamp":1791223637648,"version":"4.1.0"},"reference-count":26,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian National Health and Medical Research Council","award":["569317"],"award-info":[{"award-number":["569317"]}]},{"DOI":"10.13039\/501100001081","name":"Hunter Medical Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001081","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/ijms160715985","type":"journal-article","created":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T10:53:35Z","timestamp":1436871215000},"page":"15985-15996","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Understanding Xeroderma Pigmentosum  Complementation Groups Using Gene Expression  Profiling after UV-Light Exposure"],"prefix":"10.3390","volume":"16","author":[{"given":"Nikola","family":"Bowden","sequence":"first","affiliation":[{"name":"Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Beveridge","sequence":"additional","affiliation":[{"name":"Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Ashton","sequence":"additional","affiliation":[{"name":"Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Baines","sequence":"additional","affiliation":[{"name":"Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-3404","authenticated-orcid":false,"given":"Rodney","family":"Scott","sequence":"additional","affiliation":[{"name":"Hunter Medical Research Institute and the University of Newcastle, Callaghan, NSW 2289, Australia"},{"name":"Hunter Area Pathology Service, Pathology NORTH, New Lambton Heights, NSW 2305, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2015,7,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6","article-title":"A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy","volume":"14","author":"Cleaver","year":"1999","journal-title":"Hum. Mutat."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1093\/hmg\/10.22.2539","article-title":"Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene","volume":"10","author":"Broughton","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Kralund, H.H., Ousager, L., Jaspers, N.G., Raams, A., Pedersen, E.B., Gade, E., and Bygum, A. (2013). Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD\/ERCC2 mutation. Rare Dis., 1.","DOI":"10.4161\/rdis.24932"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/j.1600-0781.2004.00038.x","article-title":"PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: An exceptional association","volume":"20","author":"Benamar","year":"2004","journal-title":"Photodermatol. Photoimmunol. Photomed."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/nrc1652","article-title":"Cancer in xeroderma pigmentosum and related disorders of DNA repair","volume":"5","author":"Cleaver","year":"2005","journal-title":"Nat. Rev. Cancer"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"27867","DOI":"10.1074\/jbc.273.43.27867","article-title":"Stereoselectivity of human nucleotide excision repair promoted by defective hybridization","volume":"273","author":"Hess","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jmg.2010.083022","article-title":"Cancer and neurologic degeneration in xeroderma pigmentosum: Long term follow-up characterises the role of DNA repair","volume":"48","author":"Bradford","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","article-title":"Xeroderma Pigmentosum: Cutaneous, Ocular, and neurologic abnormalities in 830 published cases","volume":"123","author":"Kraemer","year":"1987","journal-title":"Arch. Dermatol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.jdermsci.2012.10.008","article-title":"Ancient origin of a Japenese xeroderma pigmentosum founder mutation","volume":"69","author":"Imoto","year":"2013","journal-title":"J. Dermatol. Sci."},{"key":"ref_11","unstructured":"Cleaver, J.E., and Kraemer, K.H. (1995). The Meetabolic and Molecular Basis of Inherited Disease, McGraw-Hill."},{"key":"ref_12","first-page":"143","article-title":"The genetic basis of xeroderma pigmentosum","volume":"34","author":"Bootsma","year":"1991","journal-title":"Ann. Genet."},{"key":"ref_13","unstructured":"Vogelstein, B., and Kinzler, K.W. (1998). The Genetic Basis of Human Cancer, McGraw-Hill."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1590\/S1415-47572014000200008","article-title":"DNA repair disease: What do they tell us about cancer and aging?","volume":"37","author":"Menck","year":"2014","journal-title":"Genet. Mol. Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"10869","DOI":"10.1073\/pnas.191367098","article-title":"Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications","volume":"98","author":"Sorlie","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/1897-4287-4-2-103","article-title":"Gene expression profiling of xeroderma pigmentosum","volume":"4","author":"Bowden","year":"2006","journal-title":"Hered. Cancer Clin. Pract."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Sun, Z., Zhang, J., Guo, Y., Ni, C., Liang, J., Cheng, R., Li, M., and Yao, Z. (2014). Genotype-phentoype correlation of Xeroderma pigmentosum in Chinese Han population. Br. J. Dermatol.","DOI":"10.1111\/bjd.13429"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Boerma, M., van der Wees, C.G., Vrieling, H., Svensson, J.P., Wondergem, J., van der Laarse, A., Mullenders, L.H., and van Zeeland, A.A. (2005). Microarray analysis of gene expression profiles of cardiac myocytes and fibroblasts after mechanical stress, ionising or ultraviolet radiation. BMC Genomics, 6.","DOI":"10.1186\/1471-2164-6-6"},{"key":"ref_19","first-page":"1212","article-title":"Differential behaviours towards ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients","volume":"59","author":"Otto","year":"1999","journal-title":"Cancer Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"4779","DOI":"10.1093\/nar\/gkg675","article-title":"Cell cycle arrest and apoptosis provoked by UV radiation-induced DNA damage are transcriptionally highly divergent responses","volume":"31","author":"Gentile","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/0190-9622(93)70263-S","article-title":"Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of skin tumours despite severe deficiency of DNA excision repair","volume":"29","author":"Scott","year":"1993","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.neuroscience.2006.12.020","article-title":"Zeroderma pigmentosum, trichothiodystrophy and Cockayne synfrome: A complex genotype-phenotype relationship","volume":"145","author":"Kraemer","year":"2007","journal-title":"Neuroscience"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0921-8777(94)90080-9","article-title":"An ERCC5 gene with homolgy to yeast RAD2 is involved in group G xeroderma pigmentosum","volume":"314","author":"Shiomi","year":"1994","journal-title":"Mutat. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"D377","DOI":"10.1093\/nar\/gks1118","article-title":"PANTHER in 2013: Modelling the evolutionof gene function, and other gene attributes, in the context of phylogenetic trees","volume":"41","author":"Mi","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1038\/nprot.2013.092","article-title":"Large-scale gene function analysis with the PANTHER classification system","volume":"8","author":"Mi","year":"2013","journal-title":"Nat. Protoc."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Schubert, S., Lehmann, J., Kalfon, L., Slor, H., Falik-Zaccai, T.C., and Emmert, S. (2014). Clinical utility gene card for: Xeroderma pigmentosum. Eur. J. Hum. Genet., 22.","DOI":"10.1038\/ejhg.2013.233"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/16\/7\/15985\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T20:49:07Z","timestamp":1760215747000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/16\/7\/15985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,14]]},"references-count":26,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2015,7]]}},"alternative-id":["ijms160715985"],"URL":"https:\/\/doi.org\/10.3390\/ijms160715985","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,14]]}}}