Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel

Christie P Thomas; Norman A Doggett; Rory Fisher; John B Stokes

doi:10.1074/jbc.271.42.26062

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Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel

Journal article

Open access

Peer reviewed

Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel

Christie P Thomas, Norman A Doggett, Rory Fisher and John B Stokes

The Journal of biological chemistry, Vol.271(42), pp.26062-26066

10/18/1996

DOI: 10.1074/jbc.271.42.26062

PMID: 8824247

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Abstract

The amiloride-sensitive epithelial sodium channel (ENaC) complex is made up of at least three different subunits alpha, beta, and gamma, which are developmentally regulated, selectively expressed, and variously up-regulated by steroid hormones. To understand mechanisms involved in regulation of the gamma subunit, we have determined the structure of the human gammaENaC gene. By 5' rapid amplification of cDNA ends, primer extension analysis, and nuclease protection assay, we identified transcription start sites in human brain, kidney, and lung. A human genomic library was screened and overlapping cosmid clones that span approximately 50 kilobases and contain the hgammaENaC gene were identified. The 5'-untranslated region is 141 bases long, and the translation start codon is contained within the second exon. The human gene spans at least 35 kilobases. The 5' end of the gene including portions of 5' flanking genomic DNA and the first intron are G + C rich and contain several CpG dinucleotides, consistent with a CpG island. The 5' flanking region contains no CCAAT or TATA-like elements but does contain two GC boxes as well as several putative transcription factor binding sites including AP-2, Sp1, CRE, PEA-3, and NF-IL6. This is the first description of the structural organization and the 5' flanking region of a member of the epithelial sodium channel complex.

Polymerase Chain Reaction

Cell Line

Epithelium - drug effects

Alternative Splicing

Epithelium - metabolism

Gene Library

Lung Neoplasms - chemistry

Exons

Introns

Humans

Molecular Sequence Data

Chromosome Mapping

Epithelial Sodium Channels

Base Sequence

Chromosomes, Human, Pair 16

Cosmids - chemistry

Kidney - chemistry

Brain Chemistry

Sodium Channels - genetics

Details

Title: Subtitle: Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel
Creators: Christie P Thomas - Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, IA 52242-1081, USA
Norman A Doggett
Rory Fisher
John B Stokes
Resource Type: Journal article
Publication Details: The Journal of biological chemistry, Vol.271(42), pp.26062-26066
DOI: 10.1074/jbc.271.42.26062
PMID: 8824247
NLM abbreviation: J Biol Chem
ISSN: 0021-9258
eISSN: 1083-351X
Publisher: United States
Grant note: DK 25231 / NIDDK NIH HHS
Language: English
Date published: 10/18/1996
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Obstetrics and Gynecology; Neuroscience and Pharmacology; Internal Medicine
Record Identifier: 9983986082902771

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