Genomic structure of the human congenital chloride diarrhea (CLD) gene

• Published in: Gene Vol. 214; no. 1; pp. 87 - 93
• Main Authors: Haila, Siru, Höglund, Pia, Scherer, Stephen W, Lee, Jeffrey R, Kristo, Paula, Coyle, Beth, Trembath, Richard, Holmberg, Christer, de la Chapelle, Albert, Kere, Juha
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 03.07.1998
• Subjects: Anion transport; Base Sequence; Chlorides - metabolism; Cloning, Molecular; Diarrhea - congenital; Diarrhea - genetics; Diarrhea - metabolism; DNA - genetics; DNA Primers - genetics; Evolution; Exon; Exons; Gene family; Genome, Human; Humans; Intron; Introns; Ion Transport - genetics; Metabolism, Inborn Errors - genetics; Metabolism, Inborn Errors - metabolism; Molecular Sequence Data; Multigene Family; Mutation; Polymerase Chain Reaction; Promoter; Promoter Regions, Genetic; Promoter; DTDST, diastrophic dysplasia sulfate transporter; Exon; Intron; Anion transport; DRA, down-regulated in adenoma; Evolution; CLD, congenital chloride diarrhea; PDS, Pendred syndrome gene; Gene family; BAC, bacterial artificial chromosome; sat-1, sulfate anion transporter-1
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/S0378-1119(98)00261-3

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 39 kb, 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).