title: Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.
abstract: In order to identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint in a female with t(X;1)(q13.1;p36.3) and EDA (patient AK) was finely mapped. The EDA region contains five groups of rare-cutter restriction sites that define CpG islands. The two more centromeric of these islands are associated with transcripts of 3.5 kb and 1.8 kb. The third CpG island maps within <1 kb of the translocation breakpoint in patient AK, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint (patient AnLy). Northern analysis with a probe from this CpG island detected an approximately 6-kb mRNA in several fetal tissues tested. An extended YAC contig of 1,200 kb with an average of fivefold coverage was constructed. The two most telomeric CpG islands map 350 kb telomeric of the two translocations. Taken together, the results suggest that the CpG island just proximal of the AK translocation breakpoint lies at the 5' end of a candidate gene for EDA.
authors.affiliation: Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, USA.
authors.forename: A K
authors.initials: AK
authors.lastname: Srivastava
authors.forename: O
authors.initials: O
authors.lastname: Montonen
authors.forename: U
authors.initials: U
authors.lastname: Saarialho-Kere
authors.forename: E
authors.initials: E
authors.lastname: Chen
authors.forename: P
authors.initials: P
authors.lastname: Baybayan
authors.forename: J
authors.initials: J
authors.lastname: Pispa
authors.forename: J
authors.initials: J
authors.lastname: Limon
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: J
authors.initials: J
authors.lastname: Kere
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002878:Chromosomes, Human, Pair 1; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D015723:Gene Library; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008214:Lymphocytes; D008297:Male; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D012016:Reference Values; D016324:Sequence Tagged Sites; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D015345:Oligonucleotide Probes