Skip to main content
NCBI home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1986 Aug 11;14(15):5955–5968. doi: 10.1093/nar/14.15.5955

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.

N Raich, P H Romeo, A Dubart, D Beaupain, M Cohen-Solal, M Goossens
PMCID: PMC311614  PMID: 2875434

Abstract

We have cloned and sequenced a cDNA clone coding for human erythrocyte porphobilinogen deaminase. It encompasses the translated region, part of the 5' and the 3' untranslated regions. The deduced 344 amino acid sequence is consistent with the molecular weight and the partial amino-acid sequence of the NH2 terminal of the purified erythrocyte enzyme. Southern analysis of human genomic DNA shows that its gene is present as a single copy in the human genome and Northern analysis demonstrates the presence of a single size species of mRNA in erythroid and non-erythroid tissues and in several cultured cell lines. Quantitative determinations indicate that the amount of PBG-D mRNA is modulated both by the erythroid nature of the tissue and by cell proliferation, probably at the transcriptional level.

Full text

PDF
5955

Images in this article

5963Image
on p.5963
5964Image
on p.5964
5965Image
on p.5965

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson P. M., Desnick R. J. Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem. 1980 Mar 10;255(5):1993–1999. [PubMed] [Google Scholar]
  2. Anderson P. M., Reddy R. M., Anderson K. E., Desnick R. J. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest. 1981 Jul;68(1):1–12. doi: 10.1172/JCI110223. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Andersson L. C., Jokinen M., Gahmberg C. G. Induction of erythroid differentiation in the human leukaemia cell line K562. Nature. 1979 Mar 22;278(5702):364–365. doi: 10.1038/278364a0. [DOI] [PubMed] [Google Scholar]
  4. Ares M., Jr, Howell S. H. Cell cycle stage-specific accumulation of mRNAs encoding tubulin and other polypeptides in Chlamydomonas. Proc Natl Acad Sci U S A. 1982 Sep;79(18):5577–5581. doi: 10.1073/pnas.79.18.5577. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Aviv H., Leder P. Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose. Proc Natl Acad Sci U S A. 1972 Jun;69(6):1408–1412. doi: 10.1073/pnas.69.6.1408. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Battersby A. R., Fookes C. J., Matcham G. W., McDonald E. Biosynthesis of the pigments of life: formation of the macrocycle. Nature. 1980 May 1;285(5759):17–21. doi: 10.1038/285017a0. [DOI] [PubMed] [Google Scholar]
  7. Beru N., Goldwasser E. The regulation of heme biosynthesis during erythropoietin-induced erythroid differentiation. J Biol Chem. 1985 Aug 5;260(16):9251–9257. [PubMed] [Google Scholar]
  8. Brûlet P., Roskam W. G. Improved method for cloning DNA complementary to minor mRNAs: preparation of a hybridization probe from purified mRNAs encoding intermediate filament proteins. Gene. 1983 Apr;22(1):59–68. doi: 10.1016/0378-1119(83)90064-1. [DOI] [PubMed] [Google Scholar]
  9. Collins S. J., Gallo R. C., Gallagher R. E. Continuous growth and differentiation of human myeloid leukaemic cells in suspension culture. Nature. 1977 Nov 24;270(5635):347–349. doi: 10.1038/270347a0. [DOI] [PubMed] [Google Scholar]
  10. Desnick R. J., Ostasiewicz L. T., Tishler P. A., Mustajoki P. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. J Clin Invest. 1985 Aug;76(2):865–874. doi: 10.1172/JCI112044. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Durnam D. M., Palmiter R. D. A practical approach for quantitating specific mRNAs by solution hybridization. Anal Biochem. 1983 Jun;131(2):385–393. doi: 10.1016/0003-2697(83)90188-4. [DOI] [PubMed] [Google Scholar]
  12. Frankel S. R., Walloch J., Hirata R. K., Bondurant M. C., Villanueva R., Weil S. C. Carbonic anhydrase is aberrantly and constitutively expressed in both human and murine erythroleukemia cells. Proc Natl Acad Sci U S A. 1985 Aug;82(15):5175–5179. doi: 10.1073/pnas.82.15.5175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Goossens M., Kan Y. Y. DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol. 1981;76:805–817. doi: 10.1016/0076-6879(81)76159-7. [DOI] [PubMed] [Google Scholar]
  14. Grandchamp B., Beaumont C., de Verneuil H., Nordmann Y. Accumulation of porphobilinogen deaminase, uroporphyrinogen decarboxylase, and alpha- and beta-globin mRNAs during differentiation of mouse erythroleukemic cells. Effects of succinylacetone. J Biol Chem. 1985 Aug 15;260(17):9630–9635. [PubMed] [Google Scholar]
  15. Grandchamp B., Romeo P. H., Dubart A., Raich N., Rosa J., Nordmann Y., Goossens M. Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc Natl Acad Sci U S A. 1984 Aug;81(16):5036–5040. doi: 10.1073/pnas.81.16.5036. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Grunstein M., Hogness D. S. Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene. Proc Natl Acad Sci U S A. 1975 Oct;72(10):3961–3965. doi: 10.1073/pnas.72.10.3961. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Hanahan D., Meselson M. Plasmid screening at high colony density. Gene. 1980 Jun;10(1):63–67. doi: 10.1016/0378-1119(80)90144-4. [DOI] [PubMed] [Google Scholar]
  18. Hanahan D. Studies on transformation of Escherichia coli with plasmids. J Mol Biol. 1983 Jun 5;166(4):557–580. doi: 10.1016/s0022-2836(83)80284-8. [DOI] [PubMed] [Google Scholar]
  19. Hoffman L. M., Fritsch M. K., Gorski J. Probable nuclear precursors of preprolactin mRNA in rat pituitary cells. J Biol Chem. 1981 Mar 25;256(6):2597–2600. [PubMed] [Google Scholar]
  20. Holmes D. S., Quigley M. A rapid boiling method for the preparation of bacterial plasmids. Anal Biochem. 1981 Jun;114(1):193–197. doi: 10.1016/0003-2697(81)90473-5. [DOI] [PubMed] [Google Scholar]
  21. Itoh N., Nose K., Okamoto H. Purification and characterization of proinsulin mRNA from rat B-cell tumor. Eur J Biochem. 1979 Jun;97(1):1–9. doi: 10.1111/j.1432-1033.1979.tb13079.x. [DOI] [PubMed] [Google Scholar]
  22. Kozak M. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res. 1984 Jan 25;12(2):857–872. doi: 10.1093/nar/12.2.857. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Kozak M. Point mutations close to the AUG initiator codon affect the efficiency of translation of rat preproinsulin in vivo. Nature. 1984 Mar 15;308(5956):241–246. doi: 10.1038/308241a0. [DOI] [PubMed] [Google Scholar]
  24. Martin P., Papayannopoulou T. HEL cells: a new human erythroleukemia cell line with spontaneous and induced globin expression. Science. 1982 Jun 11;216(4551):1233–1235. doi: 10.1126/science.6177045. [DOI] [PubMed] [Google Scholar]
  25. Maxam A. M., Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. doi: 10.1016/s0076-6879(80)65059-9. [DOI] [PubMed] [Google Scholar]
  26. Meyer U. A., Strand L. J., Doss M., Rees A. C., Marver H. S. Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med. 1972 Jun 15;286(24):1277–1282. doi: 10.1056/NEJM197206152862401. [DOI] [PubMed] [Google Scholar]
  27. Michelson A. M., Orkin S. H. Characterization of the homopolymer tailing reaction catalyzed by terminal deoxynucleotidyl transferase. Implications for the cloning of cDNA. J Biol Chem. 1982 Dec 25;257(24):14773–14782. [PubMed] [Google Scholar]
  28. Mustajoki P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med. 1981 Aug;95(2):162–166. doi: 10.7326/0003-4819-95-2-162. [DOI] [PubMed] [Google Scholar]
  29. Thayer R. E. An improved method for detecting foreign DNA in plasmids of Escherichia coli. Anal Biochem. 1979 Sep 15;98(1):60–63. doi: 10.1016/0003-2697(79)90705-x. [DOI] [PubMed] [Google Scholar]
  30. Thomas P. S. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose. Proc Natl Acad Sci U S A. 1980 Sep;77(9):5201–5205. doi: 10.1073/pnas.77.9.5201. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Vaulont S., Munnich A., Marie J., Reach G., Pichard A. L., Simon M. P., Besmond C., Barbry P., Kahn A. Cyclic AMP as a transcriptional inhibitor of upper eukaryotic gene transcription. Biochem Biophys Res Commun. 1984 Nov 30;125(1):135–141. doi: 10.1016/s0006-291x(84)80345-9. [DOI] [PubMed] [Google Scholar]
  32. Weber J., Jelinek W., Darnell J. E., Jr The definition of a large viral transcription unit late in Ad2 infection of HeLa cells: mapping of nascent RNA molecules labeled in isolated nuclei. Cell. 1977 Apr;10(4):611–616. doi: 10.1016/0092-8674(77)90093-9. [DOI] [PubMed] [Google Scholar]
  33. Wickens M. P., Buell G. N., Schimke R. T. Synthesis of double-stranded DNA complementary to lysozyme, ovomucoid, and ovalbumin mRNAs. Optimization for full length second strand synthesis by Escherichia coli DNA polymerase I. J Biol Chem. 1978 Apr 10;253(7):2483–2495. [PubMed] [Google Scholar]
  34. Zasloff M., Ginder G. D., Felsenfeld G. A new method for the purification and identification of covalently closed circular DNA molcules. Nucleic Acids Res. 1978 Apr;5(4):1139–1152. doi: 10.1093/nar/5.4.1139. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES