title: A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11.
abstract: The HED (hidrotic ectodermal dysplasia) or Clouston syndrome gene (named ED2) has been mapped to the pericentromeric region of chromosome 13 (13q11) to a 2.4-cM interval flanked by markers D13S1828 and D13S1830. We have developed a BAC/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-derived STSs, 11 known polymorphic markers, 2 previously mapped genes, and 14 ESTs. The genomic clone overlaps were confirmed by restriction fragment fingerprint analysis. This contig provides the basis for genomic sequencing and 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. Expression patterns of the genes/ESTs were tested by Northern blot and RT-PCR. Full characterization of some of these genes, as well as the novel ESTs, will be useful in assessing their involvement in the HED/Clouston syndrome.
authors.affiliation: Laboratoire "Génétique des Maladies Dermatologiques,", Université Evry-Val d'Essonne, Evry, France.
authors.forename: J
authors.initials: J
authors.lastname: Lamartine
authors.forename: A
authors.initials: A
authors.lastname: Pitaval
authors.forename: P
authors.initials: P
authors.lastname: Soularue
authors.forename: I
authors.initials: I
authors.lastname: Lanneluc
authors.forename: G
authors.initials: G
authors.lastname: Lemaître
authors.forename: Z
authors.initials: Z
authors.lastname: Kibar
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: G
authors.initials: G
authors.lastname: Waksman
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D020451:Contig Mapping; D004476:Ectodermal Dysplasia / Q000235:genetics*; D020224:Expressed Sequence Tags; D006801:Humans; D018895:Microsatellite Repeats; D020161:Physical Chromosome Mapping; D016324:Sequence Tagged Sites