Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.
- 1 January 1988
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 85 (1) , 6-10
- https://doi.org/10.1073/pnas.85.1.6
Abstract
Porphobilinogen deaminase [PBGD; porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] is a cytosolic enzyme involved in the heme biosynthetic pathway. Two isoforms of PBGD, encoded by two mRNAs differing solely in their 5' end, are known: one is found in all cells and the other is present only in erythroid cells. We have previously shown that the human PBGD is encoded by a single gene and have now cloned and characterized this gene, which is split into 15 exons spread over 10 kilobases of DNA. We demonstrate that the two mRNAs arise from two overlapping transcription units. The first one (upstream) is active in all tissues and its promoter has some of the structural features of a housekeeping promoter; the second, located 3 kilobases downstream, is active only in erythroid cells and its promoter displays structural homologies with the beta-globin gene promoters.Keywords
This publication has 28 references indexed in Scilit:
- Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.Journal of Clinical Investigation, 1985
- Intricate combinatorial patterns of exon splicing generate multiple regulated troponin T isoforms from a single geneCell, 1985
- A single locus in the mouse encodes both myosin light chains 1 and 3, a second locus corresponds to a related pseudogeneCell, 1984
- Tissue-specific expression of two mRNA species transcribed from a single vimentin geneCell, 1983
- The messenger RNA for alcohol dehydrogenase in Drosophila melanogaster differs in its 5′ end in different developmental stagesCell, 1983
- Somatic generation of antibody diversityNature, 1983
- Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cellsCell, 1983
- Alternative RNA splicing of the murine αA-crystallin gene: Protein-coding information within an intronCell, 1983
- Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide productsNature, 1982
- A single mouse α-amylase gene specifies two different tissue-specific mRNAsCell, 1981