Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

被引:286
作者
Ramoz, N
Rueda, LA
Bouadjar, B
Montoya, LS
Orth, G
Favre, M
机构
[1] Inst Pasteur, Unite Papillomavirus, F-75724 Paris 15, France
[2] Unidad Dermatol LA Rueda, Bogota, Colombia
[3] Ctr Hosp Univ Bab el Oued, Algiers, Algeria
[4] Univ Ind Santander, Bucaramanga, Colombia
关键词
D O I
10.1038/ng1044
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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收藏
页码:579 / 581
页数:3
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