There is abundant evidence published associating the ERCC2 gene with xeroderma pigmentosum group D since the gene-disease relationship was first proposed by Frederick et al. (1994). Multiple case level studies have been performed with XPD patients that have variants in the ERCC2 gene. 8 complementation groups genes (XPA, XPB, XPC, XPD, XPE, XPF, XPG, and XP variant (XPV)) in Nucleotide excision repair (NER) pathway were reported to cause Xeroderma Pigmentosum. In cells derived from XPD patients, a reduction of the ligand-dependent transactivation mediated by several nuclear receptors and a deficient global genomic NER were observed as functional alteration in patient cells. Xpd mice exhibit severe photosensitivity, cancer predisposition and segmental progeria which are consistent with patient phenotypes. All of these types of evidence are consistent with a definitive relationship between the ERCC2 gene and xeroderma pigmentosum group D.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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