{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:47:02Z","timestamp":1761598022740,"version":"build-2065373602"},"reference-count":50,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100007458","name":"Qatar Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007458","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["DNA Repair"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1016\/j.dnarep.2019.102770","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T13:07:39Z","timestamp":1576156059000},"page":"102770","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway"],"prefix":"10.1016","volume":"86","author":[{"given":"Yosr","family":"Hamdi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manel","family":"Jerbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilia","family":"Romdhane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariem","family":"Ben Rekaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"El Benna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotfi","family":"Chouchane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Samir","family":"Boubaker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Yacoub-Youssef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.dnarep.2019.102770_bib0005","doi-asserted-by":"crossref","first-page":"23","DOI":"10.32607\/20758251-2014-6-1-23-34","article-title":"Molecular mechanism of global genome nucleotide excision repair","volume":"6","author":"Petruseva","year":"2014","journal-title":"Acta Naturae"},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0010","article-title":"Mechanism and regulation of DNA damage recognition in nucleotide excision repair","volume":"41","author":"Kusakabe","year":"2019","journal-title":"Genes Environ."},{"issue":"3","key":"10.1016\/j.dnarep.2019.102770_bib0015","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.cell.2005.02.035","article-title":"UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex","volume":"121","author":"Sugasawa","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2019.102770_bib0020","doi-asserted-by":"crossref","DOI":"10.1038\/srep10984","article-title":"SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair","volume":"5","author":"Akita","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.dnarep.2019.102770_bib0025","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/978-0-387-09599-8_6","article-title":"XPC: its product and biological roles","volume":"637","author":"Sugasawa","year":"2008","journal-title":"Adv. Exp. Med. Biol."},{"issue":"13","key":"10.1016\/j.dnarep.2019.102770_bib0030","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1101\/gad.260003","article-title":"A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein","volume":"17","author":"Ng","year":"2003","journal-title":"Genes Dev."},{"issue":"6","key":"10.1016\/j.dnarep.2019.102770_bib0035","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1083\/jcb.201107050","article-title":"Recognition of DNA damage by XPC coincides with disruption of the XPC-RAD23 complex","volume":"196","author":"Bergink","year":"2012","journal-title":"J. Cell Biol."},{"issue":"22","key":"10.1016\/j.dnarep.2019.102770_bib0040","doi-asserted-by":"crossref","first-page":"18665","DOI":"10.1074\/jbc.M100855200","article-title":"Centrosome protein centrin 2\/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair","volume":"276","author":"Araki","year":"2001","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0045","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/j.jmb.2007.08.046","article-title":"Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein","volume":"373","author":"Charbonnier","year":"2007","journal-title":"J. Mol. Biol."},{"issue":"27","key":"10.1016\/j.dnarep.2019.102770_bib0050","doi-asserted-by":"crossref","first-page":"18746","DOI":"10.1074\/jbc.M513667200","article-title":"The structure of the human centrin 2-xeroderma pigmentosum group C protein complex","volume":"281","author":"Thompson","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"17","key":"10.1016\/j.dnarep.2019.102770_bib0055","doi-asserted-by":"crossref","first-page":"8590","DOI":"10.1158\/0008-5472.CAN-06-1115","article-title":"DNA damage binding protein component DDB1 participates in nucleotide excision repair through DDB2 DNA-binding and cullin 4A ubiquitin ligase activity","volume":"66","author":"Li","year":"2006","journal-title":"Cancer Res."},{"issue":"April (4)","key":"10.1016\/j.dnarep.2019.102770_bib0060","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/S1097-2765(00)80252-X","article-title":"Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis","volume":"5","author":"Tang","year":"2000","journal-title":"Mol. Cell"},{"issue":"May (18)","key":"10.1016\/j.dnarep.2019.102770_bib0065","doi-asserted-by":"crossref","first-page":"15434","DOI":"10.1074\/jbc.M011177200","article-title":"Damaged DNA-binding protein DDB stimulates the excision of cyclobutane pyrimidine dimers in vitro in concert with XPA and replication protein A","volume":"276","author":"Wakasugi","year":"2001","journal-title":"J. Biol. Chem."},{"issue":"15","key":"10.1016\/j.dnarep.2019.102770_bib0070","doi-asserted-by":"crossref","first-page":"12036","DOI":"10.1074\/jbc.M111.307058","article-title":"Monoubiquitinated histone H2A destabilizes photolesioncontaining nucleosomes with concomitant release of UV-damaged DNA-binding protein E3 ligase","volume":"287","author":"Li","year":"2012","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.dnarep.2019.102770_bib0075","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 (Amst.)"},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0080","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1346-8138.2011.01453.x","article-title":"Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco","volume":"39","author":"Doubaj","year":"2012","journal-title":"J. Dermatol."},{"issue":"7","key":"10.1016\/j.dnarep.2019.102770_bib0085","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1046\/j.1365-4362.1999.00751.x","article-title":"Xeroderma pigmentosum in Libya","volume":"38","author":"Khatri","year":"1999","journal-title":"Int. J. Dermatol."},{"issue":"12","key":"10.1016\/j.dnarep.2019.102770_bib0090","first-page":"760","article-title":"Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases","volume":"83","author":"Zghal","year":"2005","journal-title":"Tunis. Med."},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0095","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/bjd.14046","article-title":"Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia","volume":"174","author":"Jerbi","year":"2016","journal-title":"Br. J. Dermatol."},{"issue":"6","key":"10.1016\/j.dnarep.2019.102770_bib0100","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.3109\/10428194.2014.974045","article-title":"Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population","volume":"56","author":"Douzi","year":"2015","journal-title":"Leuk. Lymphoma"},{"key":"10.1016\/j.dnarep.2019.102770_bib0105","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/1471-2407-11-101","article-title":"The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development","volume":"11","author":"Rouissi","year":"2011","journal-title":"BMC Cancer"},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0110","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.gene.2013.06.092","article-title":"Poly (AT) deletion\/insertion polymorphism of the XPC gene contributes to urinary system cancer susceptibility: a meta-analysis","volume":"528","author":"Dai","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.dnarep.2019.102770_bib0115","doi-asserted-by":"crossref","DOI":"10.1155\/2013\/316286","article-title":"Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations","volume":"2013","author":"Ben Rekaya","year":"2013","journal-title":"Biomed Res. Int."},{"issue":"5","key":"10.1016\/j.dnarep.2019.102770_bib0120","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1365-4632.2010.04421.x","article-title":"Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients","volume":"49","author":"Messaoud","year":"2010","journal-title":"Int. J. Dermatol."},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0125","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00403-011-1190-4","article-title":"Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity","volume":"304","author":"Messaoud","year":"2012","journal-title":"Arch. Dermatol. Res."},{"issue":"February (2)","key":"10.1016\/j.dnarep.2019.102770_bib0130","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.jdermsci.2017.10.015","article-title":"Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: impact on molecular diagnosis","volume":"89","author":"Ben Rekaya","year":"2018","journal-title":"J. Dermatol. Sci."},{"issue":"10","key":"10.1016\/j.dnarep.2019.102770_bib0135","doi-asserted-by":"crossref","first-page":"111","DOI":"10.3389\/fgene.2019.00111","article-title":"Identification of a ERCC5 c.2333T&C (L778P) variant in two tunisian siblings with mild xeroderma pigmentosum phenotype","volume":"14","author":"Chikhaoui","year":"2019","journal-title":"Front. Genet."},{"issue":"17","key":"10.1016\/j.dnarep.2019.102770_bib0140","doi-asserted-by":"crossref","first-page":"6857","DOI":"10.1158\/0008-5472.CAN-09-1091","article-title":"Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer","volume":"69","author":"Stern","year":"2009","journal-title":"Cancer Res."},{"issue":"5","key":"10.1016\/j.dnarep.2019.102770_bib0145","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.acuro.2012.04.007","article-title":"Study on bladder cancer susceptibility and genetic polymorphisms of XPC, XPG, and CYP in smokers and non-smokers","volume":"37","author":"Wen","year":"2013","journal-title":"Actas Urol. Esp."},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0150","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0093937","article-title":"Association of XPC polymorphisms and lung Cancer risk: a meta-analysis","volume":"9","author":"Jin","year":"2014","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0155","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1093\/mutage\/ges021","article-title":"Differences in nucleotide excision repair capacity between newly diagnosed colorectal cancer patients and healthy controls","volume":"27","author":"Slyskova","year":"2012","journal-title":"Mutagenesis"},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0160","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/php.12406","article-title":"Molecular regulation of UV-induced DNA repair","volume":"91","author":"Shah","year":"2015","journal-title":"Photochem. Photobiol."},{"issue":"6968","key":"10.1016\/j.dnarep.2019.102770_bib0165","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nature02168","article-title":"The international HapMap project","volume":"426","author":"International HapMap Consortium","year":"2003","journal-title":"Nature"},{"issue":"7571","key":"10.1016\/j.dnarep.2019.102770_bib0170","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"1000 Genomes Project Consortium","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2019.102770_bib0175","doi-asserted-by":"crossref","DOI":"10.1146\/annurev-genom-083118-014954","article-title":"Consanguinity and inbreeding in health and disease in north african populations","author":"Romdhane","year":"2019","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"issue":"3","key":"10.1016\/j.dnarep.2019.102770_bib0180","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1007\/s10549-012-2202-6","article-title":"Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians","volume":"135","author":"Shan","year":"2012","journal-title":"Breast Cancer Res. Treat."},{"issue":"3","key":"10.1016\/j.dnarep.2019.102770_bib0185","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.dnarep.2019.102770_bib0190","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1093\/bioinformatics\/btm025","article-title":"SNPassoc: an R package to perform whole genome association studies","volume":"23","author":"Gonza\u00b4lez","year":"2007","journal-title":"Bioinformatics"},{"issue":"5576","key":"10.1016\/j.dnarep.2019.102770_bib0195","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1126\/science.1069424","article-title":"The structure of haplotype blocks in the human genome","volume":"296","author":"Gabriel","year":"2002","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0200","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19040970","article-title":"DNA damage, mutagenesis and Cancer","volume":"19","author":"Basu","year":"2018","journal-title":"Int. J. Mol. Sci."},{"issue":"5-7","key":"10.1016\/j.dnarep.2019.102770_bib0205","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10735-006-9041-x","article-title":"Nucleotide excision repair and cancer","volume":"37","author":"Leibeling","year":"2006","journal-title":"J. Mol. Histol."},{"issue":"3","key":"10.1016\/j.dnarep.2019.102770_bib0210","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/carcin\/21.3.453","article-title":"Nucleotide excision repair and human syndromes","volume":"21","author":"de Boer","year":"2000","journal-title":"Carcinogenesis"},{"issue":"10","key":"10.1016\/j.dnarep.2019.102770_bib0215","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1002\/bies.201600110","article-title":"Long non-coding RNAs in cancer metabolism","volume":"38","author":"Xiao","year":"2016","journal-title":"Bioessays"},{"issue":"358","key":"10.1016\/j.dnarep.2019.102770_bib0220","first-page":"6365","article-title":"Loci associated with skin pigmentation identified in African populations","volume":"17","author":"Crawford","year":"2017","journal-title":"Science"},{"issue":"10","key":"10.1016\/j.dnarep.2019.102770_bib0225","doi-asserted-by":"crossref","first-page":"3850","DOI":"10.1096\/fj.10-158485","article-title":"Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation","volume":"24","author":"Kadekaro","year":"2010","journal-title":"FASEB J."},{"issue":"2","key":"10.1016\/j.dnarep.2019.102770_bib0230","first-page":"166","article-title":"Acid phosphatase activity in senile plaques and cerebrospinal fluid of patients with Alzheimer\u2019s disease","volume":"117","author":"Omar","year":"1993","journal-title":"Arch. Pathol. Lab. Med."},{"issue":"4","key":"10.1016\/j.dnarep.2019.102770_bib0235","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s10048-004-0197-9","article-title":"Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse","volume":"5","author":"Mannan","year":"2004","journal-title":"Neurogenetics"},{"issue":"30","key":"10.1016\/j.dnarep.2019.102770_bib0240","doi-asserted-by":"crossref","first-page":"18628","DOI":"10.1074\/jbc.272.30.18628","article-title":"Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system","volume":"272","author":"Saftig","year":"1997","journal-title":"J. Biol. Chem."},{"issue":"January (1","key":"10.1016\/j.dnarep.2019.102770_bib0245","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1158\/1055-9965.EPI-09-0270","article-title":"Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers","volume":"19","author":"Wang","year":"2010","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"issue":"April (15)","key":"10.1016\/j.dnarep.2019.102770_bib0250","doi-asserted-by":"crossref","first-page":"24362","DOI":"10.18632\/oncotarget.13848","article-title":"Polymorphisms in nucleotide excision repair genes and risk of primary prostate cancer in Chinese Han populations","volume":"8","author":"Wang","year":"2017","journal-title":"Oncotarget"}],"container-title":["DNA Repair"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786419301855?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786419301855?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:44:28Z","timestamp":1761597868000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1568786419301855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":50,"alternative-id":["S1568786419301855"],"URL":"https:\/\/doi.org\/10.1016\/j.dnarep.2019.102770","relation":{},"ISSN":["1568-7864"],"issn-type":[{"type":"print","value":"1568-7864"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway","name":"articletitle","label":"Article Title"},{"value":"DNA Repair","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.dnarep.2019.102770","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"102770"}}