We investigated subinterval 6E on the human Y chromosome, a region frequent
ly deleted in infertile males. YAC yOX 17, mapped within subinterval 6E by
STS-PCR, was analyzed for the presence of new genes. TSPYq1, a member of th
e TSPY multi-copy gene family, was isolated and characterized from a yOX 17
cosmid subclone. PCR and FISH analysis performed on normal subjects and on
patients with microdeletions of Yq suggested the presence of multiple copi
es of TSPY in Yq. Copyright (C) 2000 S. Karger AG, Basel.