High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): The human homologue is contained in a human YAC from HSA3q23

The genetic and cytogenetic map around the chromosome 1 region shown to be linked with polledness and intersexuality (PIS) in the domestic goat (Capra hircus) was refined. For this purpose, a goat BAC library was systematical ly screened with primers from human coding sequences, scraped chromosome 1 DNA, bovine microsatellites from the region, and BAC ends. All the BACs (n = 30) were mapped by fluorescence in. situ hybridization (FISH) on goat chr omosome 1q41-q45. The genetic mapping of 30 new goat polymorphic markers, i solated from these BACs, made it possible to reduce the PIS interval to a r egion of less than 1 cM on goat chromosome 1q43. The PIS locus is now locat ed between the two genes ATP1B and COP, which both map to 3q23 in humans. G enetic, cytogenetic, and comparative data suggest that the PIS region is no w probably circumscribed to an similar to 1-Mb DNA segment for which constr uction of a BAC contig is in progress. In addition, a human YAC contig enco mpassing the blepharophimosis-ptosis-epicanthus-inversus region was mapped by FISH to goat chromosome 1q43. This human disease, mapped to HSA 3q23 and affecting the development and maintenance of ovarian function, could be a potential candidate for goat PIS. (C) 1999 Academic Press.