{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:05:11Z","timestamp":1791223511485,"version":"4.1.0"},"reference-count":37,"publisher":"National Academy of Sciences","issue":"16","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1997,8,5]]},"abstract":"<jats:p>\n                    The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the\n                    <jats:italic>XPD<\/jats:italic>\n                    gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. To determine if the clinical phenotypes of XP and TTD can be attributed to the sites of the mutations, we have identified the mutations in a large group of TTD and XP-D patients. Most sites of mutations differed between XP and TTD, but there are three sites at which the same mutation is found in XP and TTD patients. Since the corresponding patients were all compound heterozygotes with different mutations in the two alleles, the alleles were tested separately in a yeast complementation assay. The mutations which are found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele. If we eliminate the null mutations, the remaining mutagenic pattern is consistent with the site of the mutation determining the phenotype.\n                  <\/jats:p>","DOI":"10.1073\/pnas.94.16.8658","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:42:40Z","timestamp":1027680160000},"page":"8658-8663","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":217,"title":["Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the\n                    <i>XPD<\/i>\n                    (\n                    <i>ERCC<\/i>\n                    2) repair\/transcription\u2009gene"],"prefix":"10.1073","volume":"94","author":[{"given":"Elaine M.","family":"Taylor","sequence":"first","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard C.","family":"Broughton","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Botta","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miria","family":"Stefanini","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Sarasin","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolaas G. J.","family":"Jaspers","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Fawcett","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Harcourt","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin F.","family":"Arlett","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan R.","family":"Lehmann","sequence":"additional","affiliation":[{"name":"Medical Research Council Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom; Istituto di Genetica Biochimica ed Evoluzionistica Consiglio Nazionale delle Ricerche, Via Abbiategrasso 207, 27100 Pavia, Italy; Laboratory of Molecular Genetics, Unit\u00e9 Propre de  Recherche 42 Centre National de la Recherche Scientifique\/IFC1, 7, Rue Guy Moquet, 94800 Villejuif, France; and Department of Cell  Biology and Genetics, Erasmus University, P.O. Box 1738, 3000DR Rotterdam, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1997,8,5]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90289-9"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.6.2415"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.65.070196.001031"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/371432a0"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80155-5"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)90006-4"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(90)70096-Z"},{"key":"e_1_3_3_8_2","first-page":"817","volume":"53","author":"Stefanini M","year":"1993","unstructured":"M Stefanini, W Vermeulen, G Weeda, S Giliani, T Nardo, M Mezzina, A Sarasin, J I Harper, C F Arlett, J H J Hoeijmakers, A R Lehmann Am J Hum Genet 53, 817\u2013821 (1993).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1994.059.01.036"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-8817(85)90031-8"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/10.8.1353"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/363114a0"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-189"},{"key":"e_1_3_3_15_2","first-page":"5656","volume":"55","author":"Takayama K","year":"1995","unstructured":"K Takayama, E P Salazar, A R Lehmann, M Stefanini, L H Thompson, C A Weber Cancer Res 55, 5656\u20135663 (1995).","journal-title":"Cancer Res"},{"key":"e_1_3_3_16_2","first-page":"263","volume":"58","author":"Takayama K","year":"1996","unstructured":"K Takayama, E P Salazar, B C Broughton, A R Lehmann, A Sarasin, L H Thompson, C A Weber Am J Hum Genet 58, 263\u2013270 (1996).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb08260.x"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.11.2673"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.9.2327"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(80)90187-6"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90074-D"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(91)90054-S"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90073-C"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1989.01670140115022"},{"key":"e_1_3_3_25_2","first-page":"179","volume":"190","author":"Pawsey S A","year":"1979","unstructured":"S A Pawsey, I A Magnus, C A Ramsay, P F Benson, F Giannelli Q J Med 190, 179\u2013210 (1979).","journal-title":"Q J Med"},{"key":"e_1_3_3_26_2","first-page":"3456","volume":"51","author":"Thielmann H W","year":"1991","unstructured":"H W Thielmann, O Popanda, L Edler, E G Jung Cancer Res 51, 3456\u20133470 (1991).","journal-title":"Cancer Res"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00403726"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/256235a0"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1988.01670020074021"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0921-8777(96)00024-9"},{"key":"e_1_3_3_31_2","unstructured":"Stojkovic T. Defebvre L. Quilliet X. Eveno E. Sarasin A. Mezzina M. & Destee A. (1997) Movement Disorders in press."},{"key":"e_1_3_3_32_2","first-page":"167","volume":"56","author":"Broughton B C","year":"1995","unstructured":"B C Broughton, A F Thompson, S A Harcourt, W Vermeulen, J H J Hoeijmakers, E Botta, M Stefanini, M King, C Weber, J Cole, C F Arlett, A R Lehmann Am J Hum Genet 56, 167\u2013174 (1995).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)54085-X"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1783"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1988.tb03193.x"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1038\/365852a0"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.30.17660"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.94.16.8658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T14:47:00Z","timestamp":1649861220000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.94.16.8658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8,5]]},"references-count":37,"journal-issue":{"issue":"16","published-print":{"date-parts":[[1997,8,5]]}},"alternative-id":["10.1073\/pnas.94.16.8658"],"URL":"https:\/\/doi.org\/10.1073\/pnas.94.16.8658","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8,5]]},"assertion":[{"value":"1997-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-06-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-08-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}