{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:22:08Z","timestamp":1792142528431,"version":"4.4.0"},"reference-count":66,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2001,1,1]]},"DOI":"10.1101\/gad.859501","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T00:00:34Z","timestamp":1027728034000},"page":"15-23","source":"Crossref","is-referenced-by-count":321,"title":["The xeroderma pigmentosum group D (<i>XPD<\/i>) gene: one gene, two functions, three diseases"],"prefix":"10.1101","volume":"15","author":[{"given":"Alan R.","family":"Lehmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2001,1,1]]},"reference":[{"key":"2021111507315370000_15.1.15.1","doi-asserted-by":"crossref","first-page":"3998","DOI":"10.1128\/MCB.15.8.3998","article-title":"The essential helicase gene RAD3 suppresses short-sequence recombination in Saccharomyces cerevisiae.","volume":"15","author":"Bailis","year":"1995","journal-title":"Mol. Cell. Biol."},{"key":"2021111507315370000_15.1.15.2","first-page":"431","article-title":"The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.","volume":"60","author":"Berneburg","year":"2000","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.3","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.5.1157"},{"key":"2021111507315370000_15.1.15.4","doi-asserted-by":"publisher","DOI":"10.1038\/363114a0"},{"key":"2021111507315370000_15.1.15.5","unstructured":"Bootsma D. Kraemer K.H. Cleaver J.E. Hoeijmakers J.H.J. (1998) Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne Syndrome, and trichothiodystrophy. The genetic basis of human cancer (ed. B. Vogelstein and K.W. Kinzler), pp. 245\u2013274. McGraw-Hill, New York.."},{"key":"2021111507315370000_15.1.15.6","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1086\/302063","article-title":"Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity.","volume":"63","author":"Botta","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"2021111507315370000_15.1.15.7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M002259200"},{"key":"2021111507315370000_15.1.15.8","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0921-8777(90)90020-6","article-title":"Relationship between pyrimidine dimers, 6\u20134 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy.","volume":"235","author":"Broughton","year":"1990","journal-title":"Mutat. Res."},{"key":"2021111507315370000_15.1.15.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-189"},{"key":"2021111507315370000_15.1.15.10","first-page":"167","article-title":"Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne Syndrome.","volume":"56","author":"Broughton","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"2021111507315370000_15.1.15.11","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0921-8777(95)00054-2","article-title":"Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene.","volume":"362","author":"Broughton","year":"1996","journal-title":"Mutat. Res."},{"key":"2021111507315370000_15.1.15.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)00083-0"},{"key":"2021111507315370000_15.1.15.13","doi-asserted-by":"publisher","DOI":"10.1038\/2491"},{"key":"2021111507315370000_15.1.15.14","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.5.1357"},{"key":"2021111507315370000_15.1.15.15","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(99)80045-5"},{"key":"2021111507315370000_15.1.15.16","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80098-2"},{"key":"2021111507315370000_15.1.15.17","first-page":"89","article-title":"Disruption of the mouse xeroderma pigmentosum group D DNA repair\/basal transcription gene results in preimplantation lethality.","volume":"58","author":"de Boer","year":"1998","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.18","first-page":"3489","article-title":"Mouse model for the DNA repair\/basal transcription disorder trichothiodystrophy reveals cancer predisposition.","volume":"59","author":"de Boer","year":"1999","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.19","doi-asserted-by":"publisher","DOI":"10.1038\/368769a0"},{"key":"2021111507315370000_15.1.15.20","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.13.6488"},{"key":"2021111507315370000_15.1.15.21","first-page":"77","article-title":"Polymorphisms in the DNA repair gene XPD: Correlations with risk and age at onset of basal cell carcinoma.","volume":"8","author":"Dybdahl","year":"1999","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"key":"2021111507315370000_15.1.15.22","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.21.6559"},{"key":"2021111507315370000_15.1.15.23","first-page":"4325","article-title":"Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.","volume":"55","author":"Eveno","year":"1995","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.24","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90624-Y"},{"key":"2021111507315370000_15.1.15.25","unstructured":"Friedberg E.C. Walker G.C. Siede W. (1995) DNA repair and mutagenesis. (ASM Press, Washington)."},{"key":"2021111507315370000_15.1.15.26","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.18.5680"},{"key":"2021111507315370000_15.1.15.27","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90121-W"},{"key":"2021111507315370000_15.1.15.28","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1002\/j.1460-2075.1996.tb00512.x","article-title":"Opening of an RNA polymerase II promoter occurs in two distinct steps and requires the basal transcription factors IIE and IIH.","volume":"15","author":"Holstege","year":"1996","journal-title":"EMBO J."},{"key":"2021111507315370000_15.1.15.29","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.24.7468"},{"key":"2021111507315370000_15.1.15.30","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/0190-9622(90)70096-Z","article-title":"Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.","volume":"20","author":"Itin","year":"1990","journal-title":"J. Am. Acad. Dermatol."},{"key":"2021111507315370000_15.1.15.31","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1218(92)90034-W"},{"key":"2021111507315370000_15.1.15.32","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7"},{"key":"2021111507315370000_15.1.15.33","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.070471597"},{"key":"2021111507315370000_15.1.15.34","first-page":"65","article-title":"Photosensibilite et reparation de l'ADN: Possibilite d\u2032une parente nosologique entre xeroderma pigmentosum et syndrome de Cockayne.","volume":"35","author":"Lafforet","year":"1978","journal-title":"Arch. Franc. Pediat."},{"key":"2021111507315370000_15.1.15.35","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.7.2436-2445.2000"},{"key":"2021111507315370000_15.1.15.36","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80827-2"},{"key":"2021111507315370000_15.1.15.37","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/21.4.551"},{"key":"2021111507315370000_15.1.15.38","first-page":"5450","article-title":"Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene.","volume":"56","author":"Marionnet","year":"1996","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.39","doi-asserted-by":"publisher","DOI":"10.1007\/BF00351709"},{"key":"2021111507315370000_15.1.15.40","doi-asserted-by":"publisher","DOI":"10.1002\/yea.320100103"},{"key":"2021111507315370000_15.1.15.41","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420115"},{"key":"2021111507315370000_15.1.15.42","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.15.4818"},{"key":"2021111507315370000_15.1.15.43","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.13.6482"},{"key":"2021111507315370000_15.1.15.44","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0167-4781(97)00102-4","article-title":"Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay.","volume":"1354","author":"Satoh","year":"1997","journal-title":"Biochim. Biophys. Acta."},{"key":"2021111507315370000_15.1.15.45","doi-asserted-by":"publisher","DOI":"10.1126\/science.8465201"},{"key":"2021111507315370000_15.1.15.46","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1002\/j.1460-2075.1994.tb06522.x","article-title":"The ERCC2\/DNA repair protein is associated with the class II BTF2\/TFIIH transcription factor.","volume":"13","author":"Schaeffer","year":"1994","journal-title":"EMBO J."},{"key":"2021111507315370000_15.1.15.47","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)00082-9"},{"key":"2021111507315370000_15.1.15.48","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M004764200"},{"key":"2021111507315370000_15.1.15.49","first-page":"604","article-title":"Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.","volume":"58","author":"Shen","year":"1998","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.50","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282072"},{"key":"2021111507315370000_15.1.15.51","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90073-C"},{"key":"2021111507315370000_15.1.15.52","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"2021111507315370000_15.1.15.53","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.24.8951"},{"key":"2021111507315370000_15.1.15.54","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.1002\/j.1460-2075.1988.tb03193.x","article-title":"Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP.","volume":"7","author":"Sung","year":"1988","journal-title":"EMBO J."},{"key":"2021111507315370000_15.1.15.55","doi-asserted-by":"publisher","DOI":"10.1038\/365852a0"},{"key":"2021111507315370000_15.1.15.56","first-page":"5656","article-title":"Defects in the repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum.","volume":"55","author":"Takayama","year":"1995","journal-title":"Cancer Res."},{"key":"2021111507315370000_15.1.15.57","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy.","volume":"58","author":"Takayama","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"2021111507315370000_15.1.15.58","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80252-X"},{"key":"2021111507315370000_15.1.15.59","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.16.8658"},{"key":"2021111507315370000_15.1.15.60","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80177-X"},{"key":"2021111507315370000_15.1.15.61","doi-asserted-by":"crossref","unstructured":"Tomescu, D., Kavanagh, G., Ha, T., Campbell, H., and Melton, D.W. 2000. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis (in press)..","DOI":"10.1093\/carcin\/22.3.403"},{"key":"2021111507315370000_15.1.15.62","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.25.5890"},{"key":"2021111507315370000_15.1.15.63","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.14.2898"},{"key":"2021111507315370000_15.1.15.64","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1002\/j.1460-2075.1994.tb06428.x","article-title":"Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).","volume":"13","author":"van Vuuren","year":"1994","journal-title":"EMBO J."},{"key":"2021111507315370000_15.1.15.65","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1002\/j.1460-2075.1990.tb08260.x","article-title":"ERCC-2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.","volume":"9","author":"Weber","year":"1990","journal-title":"EMBO J."},{"key":"2021111507315370000_15.1.15.66","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.6.4258"}],"container-title":["Genes &amp; Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/gad.859501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T15:32:50Z","timestamp":1636990370000},"score":1,"resource":{"primary":{"URL":"http:\/\/genesdev.cshlp.org\/lookup\/doi\/10.1101\/gad.859501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1,1]]},"references-count":66,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,1,1]]}},"alternative-id":["10.1101\/gad.859501"],"URL":"https:\/\/doi.org\/10.1101\/gad.859501","relation":{},"ISSN":["0890-9369","1549-5477"],"issn-type":[{"value":"0890-9369","type":"print"},{"value":"1549-5477","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,1,1]]}}}