{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:49:17Z","timestamp":1790833757022,"version":"4.1.0"},"reference-count":50,"publisher":"The Royal Society","issue":"1319","license":[{"start":{"date-parts":[[1995,1,30]],"date-time":"1995-01-30T00:00:00Z","timestamp":791424000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1995,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from three distinct inborn diseases characterized by hypersensitivity of the skin to ultraviolet light and a remarkable clinical and genetic heterogeneity. These are the prototype repair syndrome, xeroderma pigmentosum (XP) (seven genetic complementation groups, designated XP-A to XP-G), Cockayne\u2019s syndrome (two groups: CS-A and CS-B) and PIBIDS, a peculiar photosensitive form of the brittle hair disease trichothiodystrophy (TTD, at least two groups of which one equivalent to XP-D). To investigate the mechanism of NER and to resolve the molecular defect in these NER deficiency diseases we have focused on the cloning and characterization of human DNA repair genes. One of the genes that we cloned is ERCC3. It specifies a chromatin binding helicase. Transfection and microinjection experiments demonstrated that mutations in ERCC3 are responsible for XP complementation group B, a very rare form of XP that is simultaneously associated with Cockayne\u2019s syndrome (CS). The ERCC3 protein was found to be part of a multiprotein complex (TFIIH) required for transcription initiation of most structural genes and for NER . This defines the additional, hitherto unknown vital function of the gene. This ERCC3 gene and several other ner genes involved in transcription initiation will be discussed.<\/jats:p>","DOI":"10.1098\/rstb.1995.0012","type":"journal-article","created":{"date-parts":[[2006,12,18]],"date-time":"2006-12-18T19:03:56Z","timestamp":1166468636000},"page":"75-81","source":"Crossref","is-referenced-by-count":55,"title":["Nucleotide excision repair syndromes: molecular basis and clinical symptoms"],"prefix":"10.1098","volume":"347","author":[{"given":"Dirk","family":"Bootsma","sequence":"first","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Weeda","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Vermeulen","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanneke","family":"Van Vuuren","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Troelstra","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Van der Spek","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Hoeijmakers","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre, Department of Cell Biology and Genetics, Erasmus University Rotterdam, P. O. Box 1738, 3000 DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","reference":[{"key":"p_1","unstructured":"Tanaka etal. (1990)"},{"key":"p_2","unstructured":"Bankmann et al. (1992)"},{"key":"p_3","unstructured":"Weeda etal. (1990)"},{"key":"p_4","unstructured":"Gulyas & Donahue (1992)"},{"key":"p_5","unstructured":"Park et al. (1992)"},{"key":"p_6","unstructured":"Mounkes et al. (1992)"},{"key":"p_7","unstructured":"Legerski & Peterson (1992)"},{"key":"p_8","unstructured":"Masutani et al. (1994)"},{"key":"p_9","unstructured":"Weber et al. (1990)"},{"key":"p_10","unstructured":"Flejter et al. (1992)"},{"key":"p_11","unstructured":"Mudgett & Maclnnes (1990)"},{"key":"p_12","unstructured":"Scherly et al. (1993)"},{"key":"p_13","unstructured":"O 'Donovan & Wood (1993)"},{"key":"p_14","unstructured":"Troelstra etal. (1992)"},{"key":"p_15","unstructured":"van Gool et al. (1994)"},{"key":"p_16","unstructured":"Huang et al. (1994)"},{"key":"p_17","doi-asserted-by":"publisher","DOI":"10.1038\/355555a0"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90150-3"},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1038\/363114a0"},{"key":"p_20","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(94)90273-9"},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1038\/218652a0"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(85)90106-X"},{"key":"p_23","doi-asserted-by":"crossref","unstructured":"de Weerd-Kastelein E.A. Keijzer W. & Bootsma D. 1972 Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature new Biol. 238 80-83.","DOI":"10.1038\/newbio238080a0"},{"key":"p_24","doi-asserted-by":"publisher","DOI":"10.1038\/338394a0"},{"key":"p_25","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.1.261"},{"key":"p_26","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90621-I"},{"key":"p_27","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90164-D"},{"key":"p_28","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90121-W"},{"key":"p_29","first-page":"310","article-title":"A possible yeast homolog of human active-gene-repairing helicase ERCC6. Biochem. biophys","volume":"201","author":"Huang M.-E.","year":"1994","journal-title":"Res. Commun."},{"key":"p_30","doi-asserted-by":"crossref","unstructured":"Legerski R. & Peterson C. 1992 Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C.","DOI":"10.1038\/359070a0"},{"key":"p_31","first-page":"817","article-title":"A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am. J. hum","volume":"53","author":"Stefanini M.","year":"1993","journal-title":"Genet."},{"key":"p_32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.10.4071"},{"key":"p_33","doi-asserted-by":"publisher","DOI":"10.1038\/348073a0"},{"key":"p_34","unstructured":"Nature Lond. 359 70-73. Troelstra C. van Gool A. de Wit J. Vermeulen W."},{"key":"p_35","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2958.1992.tb01398.x"},{"key":"p_36","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06452.x"},{"key":"p_37","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90389-T"},{"key":"p_38","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90248-S"},{"key":"p_39","doi-asserted-by":"publisher","DOI":"10.1038\/363185a0"},{"key":"p_40","unstructured":"Park E. Guzder S.M. Koken M.H.M. etal 1992 RAD52 (SSL2) the yeast homolog of the human xeroderma"},{"key":"p_41","unstructured":"pigmentosum group B DNA repair gene is essential for"},{"key":"p_42","unstructured":"viability. Proc. natn. Acad. Sci. U.S.A. 89 11416-11420."},{"key":"p_43","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90249-2"},{"key":"p_44","first-page":"221","article-title":"Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal repair. Ann. int","volume":"80","author":"Robbins J.H.","year":"1974","journal-title":"Med."},{"key":"p_45","doi-asserted-by":"publisher","DOI":"10.1126\/science.8465201"},{"key":"p_46","doi-asserted-by":"publisher","DOI":"10.1038\/363182a0"},{"key":"p_47","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950150810"},{"key":"p_48","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90073-C"},{"key":"p_49","doi-asserted-by":"crossref","unstructured":"van Gool A.J. Verhage R. Swagemakers S.M.A. etal RAD26 the functional S. cerevisiae homolog of the Cockayne Syndrome B gene ERCC6. EMBO J. 13 5361-5369.","DOI":"10.1002\/j.1460-2075.1994.tb06871.x"},{"key":"p_50","unstructured":"van Vuuren A.J. Vermeulen W. Ma L. al. 1994"}],"container-title":["Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/royalsocietypublishing.org\/doi\/pdf\/10.1098\/rstb.1995.0012","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article-pdf\/347\/1319\/75\/83437\/rstb.1995.0012.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article-pdf\/347\/1319\/75\/83437\/rstb.1995.0012.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T12:49:18Z","timestamp":1767358158000},"score":1,"resource":{"primary":{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article\/347\/1319\/75\/18681\/Nucleotide-excision-repair-syndromes-molecular"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,30]]},"references-count":50,"journal-issue":{"issue":"1319","published-print":{"date-parts":[[1995,1,30]]}},"URL":"https:\/\/doi.org\/10.1098\/rstb.1995.0012","relation":{},"ISSN":["0962-8436","1471-2970"],"issn-type":[{"value":"0962-8436","type":"print"},{"value":"1471-2970","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,30]]}}}