{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:12:16Z","timestamp":1790032336064,"version":"4.0.1"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2003,9,9]],"date-time":"2003-09-09T00:00:00Z","timestamp":1063065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:p>\n                    <jats:bold>Abstract:\u2002<\/jats:bold>\n                    Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sun sensitivity, early onset of freckling and subsequent neoplastic changes on sun\u2010exposed skin. Skin abnormalities result from an inability to repair UV\u2010damaged DNA because of defects in the nucleotide excision repair (NER) machinery. Xeroderma pigmentosum is genetically heterogeneous and is classified into seven complementation groups (XPA\u2010XPG) that correspond to genetic alterations in one of seven genes involved in NER. The variant type of XP (XPV), first described in 1970 by Ernst G. Jung as \u2018pigmented xerodermoid\u2019, is caused by defects in the post replication repair machinery while NER is not impaired. Identification of the XPV gene was only achieved in 1999 by biochemical purification and sequencing of a protein from HeLa cell extracts complementing the PRR defect in XPV cells. The XPV protein, polymerase (pol)\u03b7, represents a novel member of the Y family of bypass DNA polymerases that facilitate DNA translesion synthesis. The major function of pol\u03b7 is to allow DNA translesion synthesis of UV\u2010induced TT\u2010dimers in an error\u2010free manner; it also possesses the capability to bypass other DNA lesions in an error\u2010prone manner. Xeroderma pigmentosum V is caused by molecular alterations in the POLH gene, located on chromosome 6p21.1\u20136p12. Affected individuals are homozygous or compound heterozygous for a spectrum of genetic lesions, including nonsense mutations, deletions or insertions, confirming the autosomal recessive nature of the condition. Identification of POLH as the XPV gene provides an important instrument for improving molecular diagnostics in XPV families.\n                  <\/jats:p>","DOI":"10.1034\/j.1600-0625.2003.00124.x","type":"journal-article","created":{"date-parts":[[2003,9,9]],"date-time":"2003-09-09T04:46:53Z","timestamp":1063082813000},"page":"529-536","source":"Crossref","is-referenced-by-count":66,"title":["Molecular genetics of Xeroderma pigmentosum 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