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Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

Abstract

Epidermodysplasia verruciformis (OMIM 226400) is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses (HPVs). We recently mapped a susceptibility locus for epidermodysplasia verruciformis (EV1) to chromosome 17q25. Here we report the identification of nonsense mutations in two adjacent novel genes, EVER1 and EVER2, that are associated with the disease. The gene products EVER1 and EVER2 have features of integral membrane proteins and are localized in the endoplasmic reticulum.

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Figure 1: Identification of mutations in EVER1 and EVER2.
Figure 2: Amino-acid sequences and subcellular localization of EVER proteins.

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Acknowledgements

We thank the family members for their participation; M.-J. Rueda, X. Rueda and M.-I. Rueda for their contribution in collecting blood samples and providing information for family trees; F. Breitburd for critical reading of the manuscript; E. Perret for technical expertise in confocal microscopy; and D. Senlecques for expert assistance in computer drawings and the preparation of the manuscript. This work was done with the technical support of Généthon to obtain lymphoblastoid cell lines and DNA preparations. This work was supported by the Institut National de la Santé et de la Recherche Médicale (U190) and the Association pour la Recherche contre le Cancer. N.R. was a recipient of fellowships from the Fondation pour la Recherche Médicale, the Caisse Nationale d'Assurance Maladie des Professions Indépendantes, the Pasteur–Weizmann Foundation and the Association pour la Recherche sur le Cancer.

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Correspondence to Gérard Orth.

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Ramoz, N., Rueda, LA., Bouadjar, B. et al. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32, 579–581 (2002). https://doi.org/10.1038/ng1044

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