There is abundant evidence published associating the POLH gene with xeroderma pigmentosum variant type since the gene-disease relationship was first proposed by Masutani et al. (1999). Multiple case level studies have been performed with XPV patients that have variants in the POLH 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. Multiple Polh deficient mouse models have been established to show consistent phenotypes with XPV patients, including highly susceptible to ultraviolet-induced carcinogenesis and the formation of epithelial and mesenchymal tumors. All of these types of evidence are consistent with a definitive relationship between the POLH gene and xeroderma pigmentosum variant type.
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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