Home LiteratureArticle Details
PMID: 6946513 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 78 ·No. 9 ·1981-09-00 ·Pages 5734-8

Wang AL, Arredondo-Vega FX, Giampietro PF, Smith M, Anderson WF, Desnick RJ

Abstract

The regional gene assignments for human porphobilinogen deaminase (PBGD; EC 4.3.1.8) and esterase A4 (ESA4; EC3.1.1.1) chromosome 11 have been determined with somatic cell hybridization and immunologic, electrophoretic, and cytogenetic techniques. Dimethyl sulfoxide-induced erythroid differentiation of hybrid clones derived from the fusion of tetraploid Friend murine erythroleukemia (2S MEL) cells deficient in thymidine kinase and human Lesch--Nyhan fibroblasts (HLN) deficient in hypoxanthine phosphoribosyltransferase (HPRT-; EC 2.4.2.8) were examined for expression of human PBGD, ESA4, and lactate dehydrogenase A (LDHA; EC 1.1.1.27). Human PBGD was detected by rocket immunoelectrophoresis with rabbit anti-human PBGD IgG and by isoelectric focusing. The human chromosome complement of each clone was determined by cytogenetic and enzyme marker analyses. Of the five primary 2S MEL--HLN clones examined, three were positive for human PBGD. These were subcloned to yield a total of 10 secondary, tertiary, or quaternary clones. Analyses of these subclones permitted the regional assignment of human PBGD and ESA4 to the long arm of chromosome 11. Finer regional assignment of the loci for human PBGD and ESA4 was facilitated when two 2S MEL (HPRT-)--human fibroblast (HX/11) hybrids, each containing the X chromosome--autosome translocation (der11), t(X;11)(q25-26;q23) as the only human chromosome, were examined for expression of human PBGD, ESA4, and LDHA. One clone, HX/11-2, contained the intact X/11 translocated chromosome; in the other, HX/11-3, 11p was deleted, and the human X/11 derivative was translocated onto a mouse chromosome. HX/11-2 expressed human LDHA, but HX/11-3 did not, verifying that the latter human 11/X derivative did not include 11pter leads to 11p12; PBGD and ESA4 were not detected in either hybrid. These results confirm the location of the gene for human PBGD on chromosome 11 and establish the assignment of the loci for PBGD and ESA4 in the region 11q23 leads to 11qter.

MeSH Terms
Ammonia-Lyases/genetics Animals Carboxylesterase Carboxylic Ester Hydrolases/genetics Cells, Cultured Chromosome Mapping Chromosomes, Human, 6-12 and X Humans Hybrid Cells Hydroxymethylbilane Synthase/genetics Isoenzymes L-Lactate Dehydrogenase/genetics Mice
Chemicals
Isoenzymes L-Lactate Dehydrogenase Hydroxymethylbilane Synthase Carboxylic Ester Hydrolases Carboxylesterase ESA4 protein, human Ammonia-Lyases
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Wang A L
Arredondo-Vega F X
Giampietro P F
Smith M
Anderson W F
Desnick R J
References (42)
42 references, click to expand
  1. The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals.
    J Biol Chem. 1966 Mar 25;241(6):1359-75 PMID: 5935350
  2. Synthesis of delta-aminolaevulinate synthase in vitro using hepatic mRNA from chick embryos with induced porphyria.
    Eur J Biochem. 1980 May;106(1):17-24 PMID: 6122567
  3. The enzymatic synthesis of porphyrins from porphobilinogen. I. Uroporphyrin I.
    J Biol Chem. 1958 Aug;233(2):501-9 PMID: 13563528
  4. Induction of the synthesis of delta-aminolevulinic acid synthetase in liver parenchyma cells in culture by chemical that induce acute porphyria.
    J Biol Chem. 1963 Jun;238:2247-9 PMID: 13949833
  5. The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals.
    J Lab Clin Med. 1971 Nov;78(5):683-95 PMID: 5128821
  6. Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A 4 .
    Proc Natl Acad Sci U S A. 1972 Feb;69(2):348-52 PMID: 4501118
  7. Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.
    N Engl J Med. 1972 Jun 15;286(24):1277-82 PMID: 5024458
  8. Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.
    Stain Technol. 1972 Mar;47(2):87-93 PMID: 4113107
  9. Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.
    J Clin Invest. 1972 Oct;51(10):2530-6 PMID: 5056653
  10. Genetics of somatic mammalian cells: demonstration of a human esterase activator gene linked to the adeB gene.
    Proc Natl Acad Sci U S A. 1972 Nov;69(11):3273-7 PMID: 4508320
  11. Proceedings: Regional localization of the human genes for thymidine kinase, lactate dehydrogenase-A, and esterase-A.
    Cytogenet Cell Genet. 1974;13(1):108-10 PMID: 4827473
  12. Enzyme electrophoresis on cellulose acetate gel. II. Zymogram patterns in man-Chinese hamster somatic cell hybrids.
    Humangenetik. 1974;25(3):189-201 PMID: 4375115
  13. Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.
    Ann Hum Genet. 1975 Jul;39(1):21-31 PMID: 52331
  14. Sequential induction of heme pathway enzymes during erythroid differentiation of mouse Friend leukemia virus-infected cells.
    J Exp Med. 1976 Feb 1;143(2):305-15 PMID: 1249519
  15. Delta-Aminolevulinic acid synthase from chick embryo liver mitochondria. II. Immunochemical correlation between synthesis and activity in induction and repression.
    J Biol Chem. 1976 Mar 10;251(5):1347-53 PMID: 815257
  16. Detection of interspecific translocations in mouse-human hybrids by alkaline Giemsa staining.
    Exp Cell Res. 1976 Apr;99(1):31-6 PMID: 57063
  17. Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man.
    Ann Hum Genet. 1976 May;39(4):413-22 PMID: 182062
  18. Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11.
    Cytogenet Cell Genet. 1976;16(1-5):105-7 PMID: 185008
  19. Regional localization of human phosphoglucomutase-2 locus on chromosome 4.
    Exp Cell Res. 1978 Feb;111(2):492-5 PMID: 564278
  20. Chromosomal localization of human beta globin gene on human chromosome 11 in somatic cell hybrids.
    Proc Natl Acad Sci U S A. 1978 Mar;75(3):1456-60 PMID: 274732
  21. Maintenance of hemoglobin inducibility in somatic cell hybrids of tetraploid (2S) mouse erythroleukemia cells with mouse or human fibroblasts.
    Somatic Cell Genet. 1978 Mar;4(2):157-68 PMID: 276093
  22. Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybrids.
    Nature. 1979 Feb 15;277(5697):534-8 PMID: 283312
  23. Hepatic heme metabolism and its control.
    Yale J Biol Med. 1979 Jan-Feb;52(1):13-37 PMID: 222077
  24. Deficient heme synthesis as the cause of noninducibility of hemoglobin synthesis in a Friend erythroleukemia cell line.
    Cell. 1979 Feb;16(2):415-23 PMID: 287566
  25. Assignment of the mitochondrial aconitase gene (ACONM) to human chromosome 22.
    Cytogenet Cell Genet. 1978;22(1-6):212-4 PMID: 752476
  26. Regional assignment of genes for phosphoglucomutase2 and peptidase S to 4pter leads to 4q21 in man.
    Cytogenet Cell Genet. 1978;22(1-6):401-5 PMID: 752511
  27. Regional mapping of beta-glucuronidase (beta GUS) on human chromosome 7.
    Cytogenet Cell Genet. 1978;22(1-6):437-40 PMID: 752520
  28. 4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12.
    Cytogenet Cell Genet. 1978;22(1-6):74-91 PMID: 752570
  29. Ocular complications of Rift Valley fever.
    J Egypt Public Health Assoc. 1978;53(3-4):185-6 PMID: 572400
  30. DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11.
    Proc Natl Acad Sci U S A. 1979 Sep;76(9):4563-5 PMID: 291988
  31. Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates.
    J Biol Chem. 1980 Mar 10;255(5):1993-9 PMID: 7354069
  32. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5.
    Cytogenet Cell Genet. 1979;25(1-4):21-31 PMID: 396125
  33. Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y.
    Cytogenet Cell Genet. 1979;25(1-4):47-58 PMID: 396128
  34. Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22.
    Cytogenet Cell Genet. 1979;25(1-4):59-73 PMID: 396129
  35. Preuroporphyrinogen, a universal intermediate in the biosynthesis of uroporphyrinogen III.
    FEBS Lett. 1980 Mar 24;112(1):86-8 PMID: 6989639
  36. Biosynthesis of the pigments of life: formation of the macrocycle.
    Nature. 1980 May 1;285(5759):17-21 PMID: 6769048
  37. Cell-free synthesis of rat liver delta-aminolevulinate synthase and possible occurrence of processing of the enzyme protein in the course of its translocation from the cytosol into the mitochondrial matrix.
    FEBS Lett. 1980 Jun 16;115(1):15-8 PMID: 7389915
  38. Linkage map of Escherichia coli K-12, edition 6.
    Microbiol Rev. 1980 Mar;44(1):1-56 PMID: 6997720
  39. The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11.
    Biochem Biophys Res Commun. 1980 Jul 16;95(1):170-6 PMID: 7417246
  40. Evidence that in chick embryos destruction of hepatic microsomal cytochrome P-450 haem is a general mechanism of induction of delta-aminolaevulinate synthase by porphyria-causing drugs.
    Biochem J. 1980 Sep 15;190(3):519-26 PMID: 7470066
  41. 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 PMID: 7251856
  42. Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity.
    Proc Natl Acad Sci U S A. 1970 Nov;67(3):1315-20 PMID: 5274461
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.78.9.5734
Published
1981-09-00
Pages
5734-8
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC348846
Subset
IM
Grants
NIAID NIH HHS · 1 RO5 AI 00249 · United States
NICHD NIH HHS · 1 T32 HD 07105 · United States
NIADDK NIH HHS · AM 26824 · United States
External Links
PubMed source DOI: 10.1073/pnas.78.9.5734 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2