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
N. Ramoz et al., 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, J INVES DER, 112(3), 1999, pp. 259-263
Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized
by an abnormal susceptibility to infection with a specific group of relate
d human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associ
ated with the skin carcinomas developing in about half of EV patients. EV i
s usually considered as an autosomal recessive condition. Taking EV as a mo
del 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 ind
ividuals was observed for a marker of chromosome 17q (D17S784) in two famil
ies and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third f
amily. 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 i
n two families allowed a candidate region for the EV susceptibility locus t
o 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 dom
inant locus for the susceptibility to familial psoriasis, It has been shown
that patients suffering from psoriasis are likely to constitute the reserv
oir of HPV5, It is thus tempting to speculate that distinct defects affecti
ng the same gene may be involved in the two skin conditions.