Lack of EVER2 Protein in Two Epidermodysplasia Verruciformis Patients with Skin Cancer Presenting Previously Unreported Homozygous Genetic Deletions in.

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Lack of EVER2 Protein in Two Epidermodysplasia Verruciformis Patients with Skin Cancer Presenting Previously Unreported Homozygous Genetic Deletions in the EVER2 Gene Manuela M. Landini, Elisa Zavattaro, Cinzia Borgogna, Barbara Azzimonti, Marco De Andrea, Enrico Colombo, Federica Marenco, Ada Amantea, Santo Landolfo, Marisa Gariglio Journal of Investigative Dermatology Volume 132, Issue 4, Pages 1305-1308 (April 2012) DOI: 10.1038/jid.2011.399 Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical, histological, virological, and genetic findings from the epidermodysplasia verruciformis (EV) study patients. Forehead regions of EV patient 4 (EVpt4) (a) and EVpt5 (b) showing erythematous and hyperkeratotic plaques. Biopsy specimens from Bowen's disease lesions (c, EVpt4; d, EVpt5) demonstrate typical histological features of EV. Bar=100μm. Human papillomavirus (HPV) genotyping in eyebrow hair bulbs is reported for each patient below the forehead images. The viral load values, expressed as DNA copy number per cell, are shown in brackets. na, not available. (e) The automated sequencing of the PCR fragments derived from the EVER2 gene revealed a 13-nucleotide deletion, g.6609_6621delACTTCACCTTCCT in exon 4 in EVpt4. The deletion is predicted to change the reading frame and result in a premature stop codon (PTC) after nine amino acids (p.Y109fsX118). (f) In patient 5, a single-nucleotide deletion was detected in exon 6 of EVER2 (g.7668delG), which is predicted to change the reading frame and result in a PTC in exon 7 (p.V191fsX226). (g) Schematic representation of the WT EVER2 gene with indication of the mutations detected in the two study patients. The encoded WT protein along with the variant proteins, as predicted by computational analysis, is also shown. Green boxes represent the altered protein encoded after deletion, which was interrupted downstream by the predicted PTC. (h) Lysates (30μg) collected from EV-derived keratinocytes and healthy donors (Ctrl) were analyzed by western blot for levels of the EVER2 protein. Antibodies were generated against the first 80 amino acids of EVER2 as described in the Supplementary Information online. β-Actin served as a loading control. Journal of Investigative Dermatology 2012 132, 1305-1308DOI: (10.1038/jid.2011.399) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Genetic status and detection of beta human papillomavirus (β-HPV) DNA in epidermodysplasia verruciformis (EV) patient 4 (EVpt4)'s family members. The pedigree of EVpt4's family is shown together with β-HPV carriage in eyebrows hair bulbs of each individual. The viral load values expressed, as DNA copy number per cell, are shown in curved brackets or not reported when they were less than one copy per cell. Squares and circles indicate males and females, respectively, with years of birth given underneath. Double lines are indicative of consanguineous unions. Filled symbols indicate the homozygous genotype and half-filled symbols indicate the heterozygous genotype of the EVER2 gene deletion. The arrow indicates the proband. Journal of Investigative Dermatology 2012 132, 1305-1308DOI: (10.1038/jid.2011.399) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions