GENOMIC STRUCTURE OF THE HUMAN CONGENITAL CHLORIDE DIARRHEA (CLD) GENE

Congenital chloride diarrhea (CLD) is caused by mutations in a gene wh ich encodes an intestinal anion transporter. We report here the comple te genomic organization of the human CLD gene which spans approximatel y 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 b inding sites. The genomic structure was determined using DNA from seve ral sources including multiple large-insert libaries and genomic DNA f rom 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 reveale d the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred s yndrome gene (PDS). (C) 1998 Elsevier Science B.V. All rights reserved .