title: Genomic structure of the human congenital chloride diarrhea (CLD) gene.
abstract: Congenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS).
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland. Siru.Haila@helsinki.fi
authors.forename: S
authors.initials: S
authors.lastname: Haila
authors.forename: P
authors.initials: P
authors.lastname: Höglund
authors.forename: S W
authors.initials: SW
authors.lastname: Scherer
authors.forename: J R
authors.initials: JR
authors.lastname: Lee
authors.forename: P
authors.initials: P
authors.lastname: Kristo
authors.forename: B
authors.initials: B
authors.lastname: Coyle
authors.forename: R
authors.initials: R
authors.lastname: Trembath
authors.forename: C
authors.initials: C
authors.lastname: Holmberg
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: J
authors.initials: J
authors.lastname: Kere
mesh_terms: D001483:Base Sequence; D002712:Chlorides / Q000378:metabolism*; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D003967:Diarrhea / Q000151:congenital* / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D015894:Genome, Human; D006801:Humans; D007438:Introns; D017136:Ion Transport / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic
chemical_list: D002712:Chlorides; D017931:DNA Primers; D004247:DNA