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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Motifs
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Amino Acid Sequence
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Base Sequence
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Chromosomes, Human, Pair 17
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Codon, Nonsense*
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Conserved Sequence
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DNA Mutational Analysis
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Endoplasmic Reticulum / genetics
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Epidermodysplasia Verruciformis / genetics*
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Exons
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Female
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Genetic Markers
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Genetic Predisposition to Disease*
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Haplotypes
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Homozygote
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Humans
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Male
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Membrane Proteins / genetics*
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Microsatellite Repeats
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Molecular Sequence Data
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Pedigree
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Protein Structure, Tertiary
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Recombination, Genetic
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Sequence Alignment
Substances
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Codon, Nonsense
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Genetic Markers
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Membrane Proteins
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TMC6 protein, human
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TMC8 protein, human
Associated data
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GENBANK/AY099356
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GENBANK/AY099357
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GENBANK/AY099358
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GENBANK/AY099359
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OMIM/226400