Alternative Transcription and Splicing of the Human Porphobilinogen Deaminase Gene Result Either in Tissue-Specific or in Housekeeping Expression

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...

Full description

Saved in:
Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1988-01, Vol.85 (1), p.6-10
Main Authors: Chretien, Stany, Dubart, Anne, Beaupain, Denise, Raich, Natacha, Grandchamp, Bernard, Rosa, Jean, Goossens, Michel, Romeo, Paul-Henri
Format: Article
Language:English
Subjects:
Ammonia-Lyases - genetics
Animals
Base Sequence
Biological and medical sciences
Cell lines
Cloning, Molecular
Cosmids
DNA, Recombinant - metabolism
Enzymes
Erythroid cells
Exons
Fundamental and applied biological sciences. Psychology
Gene expression
Gene Expression Regulation
Genes
HeLa cells
Housekeeping
Humans
Hydroxymethylbilane Synthase - genetics
Introns
Messenger RNA
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Promoter regions
RNA Splicing
Sequence Homology, Nucleic Acid
Transcription, Genetic
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 β -globin gene promoters.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.85.1.6