PMID- 10084299 OWN - NLM STAT- MEDLINE DCOM- 19990413 LR - 20220318 IS - 0022-202X (Print) IS - 0022-202X (Linking) VI - 112 IP - 3 DP - 1999 Mar TI - A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. PG - 259-63 AB - Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions. FAU - Ramoz, N AU - Ramoz N AD - Unite Mixte Institut Pasteur/INSERM U190, Institut Pasteur, Paris, France. FAU - Rueda, L A AU - Rueda LA FAU - Bouadjar, B AU - Bouadjar B FAU - Favre, M AU - Favre M FAU - Orth, G AU - Orth G LA - eng PT - Journal Article PL - United States TA - J Invest Dermatol JT - The Journal of investigative dermatology JID - 0426720 SB - IM MH - *Chromosome Mapping MH - Chromosomes, Human, Pair 17/*genetics MH - Consanguinity MH - Epidermodysplasia Verruciformis/*genetics MH - Female MH - Genetic Predisposition to Disease/*genetics MH - Haplotypes MH - Homozygote MH - Humans MH - Lod Score MH - Male MH - Microsatellite Repeats/genetics MH - Papillomaviridae/classification MH - Papillomavirus Infections/*genetics MH - Pedigree MH - Psoriasis/*genetics EDAT- 1999/03/20 00:00 MHDA- 1999/03/20 00:01 CRDT- 1999/03/20 00:00 PHST- 1999/03/20 00:00 [pubmed] PHST- 1999/03/20 00:01 [medline] PHST- 1999/03/20 00:00 [entrez] AID - 10.1046/j.1523-1747.1999.00536.x [doi] AID - S0022-202X(15)40410-5 [pii] PST - ppublish SO - J Invest Dermatol. 1999 Mar;112(3):259-63. doi: 10.1046/j.1523-1747.1999.00536.x.