Genomic structure of the human congenital chloride diarrhea (CLD) gene
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...
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Published in | Gene Vol. 214; no. 1; pp. 87 - 93 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier B.V
03.07.1998
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Subjects | |
Online Access | Get full text |
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Summary: | 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). |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
ISSN: | 0378-1119 1879-0038 |
DOI: | 10.1016/S0378-1119(98)00261-3 |