BIOMAT Database Logo BIOMAT Database Logo

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 2002

Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Unité des Papillomavirus, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.

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.

UI MeSH Term Description Entries
D008297 Male Males
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011995 Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004721 Endoplasmic Reticulum A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed) Ergastoplasm,Reticulum, Endoplasmic
D004819 Epidermodysplasia Verruciformis An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. Lewandowsky-Lutz Disease,Lutz-Lewandowsky Disease,Disease, Lewandowsky-Lutz,Disease, Lutz-Lewandowsky,Lewandowsky Lutz Disease,Lutz Lewandowsky Disease
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons

Related Publications

Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Epidermodysplasia verruciformis associated with HPV 10.
April 2013, Dermatology online journal,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
[Epidermodysplasia verruciformis associated with chromosomal abnormality].
March 1984, Nihon Hifuka Gakkai zasshi. The Japanese journal of dermatology,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
[Epidermodysplasia verruciformis, associated with epitheliomatous degeneration].
January 1955, Rassegna di dermatologia e di sifilografia,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.
January 2004, Journal of human genetics,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Epidermodysplasia verruciformis associated with isolated IgM deficiency.
January 2007, Indian journal of dermatology, venereology and leprology,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
[Lewandowsky-Lutz epidermodysplasia verruciformis associated with vitiligo].
January 1988, Vestnik dermatologii i venerologii,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
[Epidermodysplasia verruciformis].
January 1950, Annales de dermatologie et de syphiligraphie,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Epidermodysplasia verruciformis.
January 1989, The Australasian journal of dermatology,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Epidermodysplasia verruciformis.
May 1947, Archives of dermatology and syphilology,
Nicolas Ramoz, and Luis-Alfredo Rueda, and Bakar Bouadjar, and Luz-Stella Montoya, and Gérard Orth, and Michel Favre
Epidermodysplasia verruciformis.
April 1976, American journal of diseases of children (1960),
Copied contents to your clipboard!