A 1.5-mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11

The HED (hidrotic ectodermal dysplasia) or Clouston syndrome gene (named ED 2) has been mapped to the pericentromeric region of chromosome 13 (13q11) t o a 2.4-cM interval flanked by markers D13S1828 and D13S1830. We have devel oped a BAG/PAC-based contig map of this region. This contig, comprising 23 clones and spanning 1.5 Mb, was established by mapping of 27 BAC/PAC end-de rived STSs, 11 known polymorphic markers, 2 previously mapped genes, and 14 ESTs. The genomic clone overlaps were confirmed by restriction fragment fi ngerprint analysis. This contig provides the basis for genomic sequencing a nd gene identification in the ED2 critical region. Of the 14 ESTs mapped to the contig, 6 show homology to human genes and 8 appear to be novel. Expre ssion patterns of the genes/ESTs were tested by Northern blot and RT-PCR. F ull characterization of some of these genes, as well as the novel ESTs, wil l be useful in assessing their involvement in the HED/Clouston syndrome. (C ) 2000 Academic Press.