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http://dx.doi.org/10.1038/jid.2011.399DOI Listing

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Article Synopsis
  • Epidermodysplasia verruciformis (EV) is a rare genetic skin disorder that leads to skin lesions caused by certain high-risk human papillomaviruses (HPVs) and can develop into squamous cell carcinoma (SCC).
  • The disease primarily affects individuals with specific mutations in genes that are not fully understood, particularly in relation to their role in HPV infection.
  • Studies using a mouse model show that while MmuPV1 (similar to β-HPVs) induces skin lesions and potential malignancy, the reaction in gene-null mice differs from that in EV patients, indicating complex interactions between the genes and HPV infection.
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Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of (encoding EVER1) or (EVER2) are selectively prone to disseminated skin lesions due to keratinocyte-tropic human β-papillomaviruses (β-HPVs), which lack E5 and E8. We describe EV patients homozygous for null mutations of the gene encoding calcium- and integrin-binding protein-1 (CIB1). CIB1 is strongly expressed in the skin and cultured keratinocytes of controls but not in those of patients.

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Epidermodysplasia verruciformis (EV) is a genodermatosis associated with skin cancers that results from a selective susceptibility to related human papillomaviruses (EV HPV). Invalidating mutations in either of two genes (EVER1 and EVER2) with unknown functions cause most EV cases. We report that EVER1 and EVER2 proteins form a complex and interact with the zinc transporter 1 (ZnT-1), as shown by yeast two-hybrid screening, GST pull-down, and immunoprecipitation experiments.

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