The connexin32 (cx32) gene codes for the gap junction protein found in liver, pancreas and nervous tissue. Recently mutations in the coding region of this gene have been associated with the dominant X-linked form of Charcot-Marie-Tooth (CMTX1) neuropathy. Since some CMTX1 patients show no mutations in their cx32 gene coding region, it was speculated that these patients carry mutations in the promoter region of the gene. This paper describes the organization of the human cx32 gene and its tissue-specific transcription. The gene consists of three exons that are alternatively spliced to produce mRNAs with different 5′-untranslated regions (UTRs). Transcription is initiated from two tissue-specific promoters. In liver and pancreas, promoter P1. located more than 8 kb upstream of the translation start codon, is used, and the transcript is processed to remove a large intron. In contrast, in nerve cells, transcription is initiated from promoter P2, located 497 bp upstream from the translation start codon, and the transcript is processed to remove a small 355-pb intron. The downstream exon. which includes the entire coding sequence, is shared by both mRNAs. CMTX1 patients with a normal cx32 coding region are expected to have mutations in this newly described promoter P2 rather than the known promoter P1.
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Research Article|
June 01 1996
The human connexin32 gene is transcribed from two tissue-specific promoters
Isaac M. Neuhaus;
Isaac M. Neuhaus
1Department of Biochemistry and Molecular Biology, University of Miami School of Medicine, Miami, Florida 33101.
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Linda Bone;
Linda Bone
2Department of Neurology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104.
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Suping Wang;
Suping Wang
2Department of Neurology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104.
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Victor Ionasescu;
Victor Ionasescu
3Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242.
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Rudolf Werner
Rudolf Werner
1Department of Biochemistry and Molecular Biology, University of Miami School of Medicine, Miami, Florida 33101.
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Publisher: Portland Press Ltd
Received:
November 20 1995
Accepted:
December 07 1995
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 1996 Plenum Publishing Corporation
1996
Biosci Rep (1996) 16 (3): 239–248.
Article history
Received:
November 20 1995
Accepted:
December 07 1995
Citation
Isaac M. Neuhaus, Linda Bone, Suping Wang, Victor Ionasescu, Rudolf Werner; The human connexin32 gene is transcribed from two tissue-specific promoters. Biosci Rep 1 June 1996; 16 (3): 239–248. doi: https://doi.org/10.1007/BF01207338
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