CONSTRUCTION OF 2 YAC CONTIGS IN HUMAN XP11.23-P11.22, ONE ENCOMPASSING THE LOCI OATL1,GATA,TFE3, AND SYP, THE OTHER LINKING DXS255 TO DXS146

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characteri zed. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wisko tt-Aldrich syndrome and synovial sarcoma. A second contig, mapping pro ximal to the first, is estimated to be over 2.1 Mb and links the hyper variable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of pr eviously known markers within our contigs, Xpter-OATL1-GATA - TFE3 - S YP - DXS255 - DXS146 - Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identifi ed three CpG islands. These contigs and new markers will provide a use ful resource for more detailed analysis of Xp11.23-p11.22, a region im plicated in several genetic diseases. (C) 1995 Academic Press, Inc.