57Accesses
6Altmetric
Summary
The three structural loci encoding human phosphofructokinase, a key regulatory enzyme of glycolysis, are located on separate chromosomes. The gene coding for the liver-type subunitPFKL has previously been assigned to chromosome 21. We have used a subunit- and human-specific monoclonal antibody to liver PFK to detect the expression of humanPFKL in hamster x human hybrid cell lines. A cell line carrying an 8;21 translocation which contains all of chromosome 21 except the band 21q22.3 was negative for the expression ofPFKL whereas cell lines carrying the reciprocal 8;21 translocation were positive. In addition, a cell line with a ring chromosome 21 containing a breakpoint which excluded the distal part of the q22.3 band was negative for expression ofPFKL. These results indicate that humanPFKL is located on chromosome 21q22.3.
This is a preview of subscription content,log in via an institution to check access.
Access this article
Subscribe and save
- Get 10 units per month
- Download Article/Chapter or eBook
- 1 Unit = 1 Article or 1 Chapter
- Cancel anytime
Buy Now
Price includes VAT (Japan)
Instant access to the full article PDF.
Similar content being viewed by others
References
Alhadeff B, Velivasakis M, Siniscalo M (1977) Simultaneous identification of chromatid replication of human chromosomes in metaphases of man-mouse somatic cell hybrids. Cytogenet Cell Genet 19:236–239
Baikie AG, Loder PB, de Grouchy GC, Pitt DB (1965) Phosphohexokinase activity of erythrocytes in mongolism: another possible marker for chromosome 21. Lancet I:412–414
Bartels H, Kruse K, Tolksdorf M (1968) Enzymes in Down's syndrome. Lancet I:820
Bensen PF, Linacre B, Taylor AI (1968) Erythrocyte ATP: D-fructose-6-phosphate 1-phosphotransferase (phosphofructokinase) activity in children with normal/G trisomic mosaic Down's syndrome and in normal and Down's syndrome controls. Nature 220:1235–1236
Beutler E (1984) Red cell metabolism. A manual of biochemical methods, 3rd edn. Grune and Stratton, Orlando
Cervenka J, Gorlin RJ, Djavadi GR (1977) Down syndrome due to partial 21q. Clin Genet 11:119–121
Chadefaux B, Rethore MO, Allard D (1984) Regional mapping of liver type 6-phosphofructokinase isoenzyme on chromosome 21. Hum Genet 68:136–137
Conway MM, Layzer RB (1970) Blood cell phosphofructokinase in Down's syndrome. Humangenetik 9:185–190
Cox DR, Epstein CJ (1985) Comparative gene mapping of human chromosome 21 and mouse chromosome 16. Ann NY Acad Sci 450:169–177
Cox DR, Kawashima H, Vora S, Epstein CJ (1984) Regional mapping of SOD-1, PRGS, and PFK-L on human chromosome 21. Cytogenet Cell Genet 37:441
Davidson M, Collins M, Byrne J, Vora S (1983) Alterations in phosphofructokinase isoenzymes during early human development: establishment of adult organ-specific patterns. Biochem J 214:703–710
Doery JCG, Hirsh J, Garson OM, de Grouchy GC (1968) Plateletphosphohexokinase levels in Down's syndrome. Lancet II:894–895
Drabkin HA, Diaz M, Bradley CM, Le Beau MM, Rowley JD, Patterson D (1985) Isolation and analysis of the 21q+ chromosome in the acute myelogenous leukemia 8;21 translocation: evidence that c-mos is not translocated. Proc Natl Acad Sci USA 82:464–468
Friend KK, Chen S, Ruddle FH (1976) Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain. Somatic Cell Genet 1:183–188
Habedank M, Rodewald A (1982) Moderate Down's syndrome in three siblings having partial trisomy 21q22.2→qter and therefore no SOD-1 excess. Hum Genet 60:74–77
Hagemeijer A, Smit EME (1977) Partial trisomy 21: further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet 38:15–23
Kao F-T, Puck TT (1974) Induction and isolation of auxotrophic mutants in mammalian cells. Methods Cell Biol 8:23–39
Kazazian HH, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC (1985) Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. Ann NY Acad Sci 450:33–42
Kitsiou-Tzeli S, Hallett J, Atkins L, Latt S, Holmes LB (1984) Brief clinical report: familial t(4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and 21q without manifestations of the Down syndrome. Am J Med Genet 18:725–729
Layzer RB, Epstein CJ (1972) Phosphofructokinase and chromosome 21. Am J Hum Genet 24:533–543
Mattei JF, Mattei MG, Baeteman MA, Giraud F (1981) Trisomy 21 for the region 21q22.3: identification by high-resolution R-banding patterns. Hum Genet 56:409–411
Niebuhr E (1974) Down's syndrome: the possibility of a pathogenetic segment on chromosome no. 21. Humangenetik 21:99–101
Oates DC, Patterson D (1977) Biochemical genetics of Chinese hamster cell mutants with deviant purine metabolism: characterization of Chinese hamster cell mutants defective in phosphoribosyl-pyrophosphate amidotransferase and phosphoribosylglycineamide synthetase and an examination of alternatives to the first step of purine biosynthesis. Somatic Cell Genet 3:561–577
Pantelakis SN, Karaklis AG, Alexiou D, Vardes E, Valaes T (1970) Red cell enzymes in trisomy 21. Am J Hum Genet 22:184–193
Pfeiffer RA, Kessel EK, Soer K-H (1977) Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet 11:207–213
Poissonnier M, Saint-Paul B, Dutrillaux B, Chassaigne M, Gruyer P, de Blignieres-Strouk G (1976) Trisomie 21 partielle (21q21→21q22.2). Ann Genet (Paris) 19:69–73
Sacchi N, Watson DK, van Kessel HMG, Hagemeijer A, Kersey J, Drabkin HD, Patterson D, Papas TS (1986) Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations. Science 231:79–382
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972
Sinet P-M, Couturier J, Dutrillaux BG, Poissonnier M, Raoul O, Rethore M-O, Allard D, Lejeune J, Jerome H (1976) Trisomie 21 et superoxyde dismutase-1 (IPO-A): tentative de localisation sur la sous bande 21q22.1. Exp Cell Res 97:47–55
Sparkes RS, Baughan MA (1969) Blood cell enzymes in translocation Down's syndrome. Am J Hum Genet 21:430–439
Stetten G, Sroka B, Corson V, Boehm CD (1984) Prenatal detection of an unstable ring 21 chromosome. Hum Genet 68:310–313
Taysi K, Sparkes R, O'Brien TJ, Dengler DR (1982) Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation. J Med Genet 19:144–148
Van Keuren ML, Watkins PC, Drabkin HA, Jabs EW, Gusella JF, Patterson D (1986) Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (in press)
Vora S (1981) Isozymes of human phosphofructokinase in red blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system. Blood 57:724–732
Vora S (1982) Isozymes of phosphofructokinase. In: Rattazzi MC, Scandalios JG, Whitt GS (eds) Isozymes: current topics in biological and medical research, vol 6. Liss, New York, pp 119–167
Vora S, Francke U (1981) Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Proc Natl Acad Sci USA 78:3738–3742
Vora S, Seaman C, Durham S, Piomelli S (1980) Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. Proc Natl Acad Sci USA 77:62–66
Vora S, Wims LA, Durham S, Morrison SL (1981) Production and characterization of monoclonal antibodies to the subunits of human phosphofructokinase: new tools for the immunochemical and genetic analyses of isozymes. Blood 58:823–829
Vora S, Durham S, de Martinville B, George DL, Francke U (1982) Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen→q32) using somatic cell hybrids and monoclonal anti-M antibody. Somatic Cell Genet 8:95–104
Vora S, Miranda AF, Hernandez E, Francke U (1983) Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. Hum Genet 63: 374–379
Vora S, Halper JP, Knowles DM (1985) Alterations in the activity and isozymic profile of human phosphofructokinase during malignant transformation in vivo and in vitro: transformation- and progression-linked determinants of malignancy. Cancer Res 45: 2993–3001
Weil D, Cottreau D, Van Cong N, Rebourcet R, Foubert C, Gross M-S, Dreyfus J-C, Kahn A (1980) Assignment of the gene for F-type phosphofructokinase to human chromosome 10 by somatic cell hybridization and specific immunoprecipitation. Ann Hum Genet 44:11–16
Williams J, Summitt RL, Martens PR, Kimbrell RA (1975) Familial Down syndrome due to t(10;21) translocation. Evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet 27:478–485
Yunis JJ (1983) The chromosomal basis of human neoplasia. Science 221:227–236
Author information
Authors and Affiliations
The Eleanor Roosevelt Institute for Cancer Research, 4200 East Ninth Avenue, B-129, 80262, Denver, CO, USA
Margaret Van Keuren, H. Drabkin, Iris Hart & D. Patterson
Department of Oncology, University of Colorado Health Sciences Center, 80262, Denver, CO, USA
H. Drabkin
Department of Medicine, University of Colorado Health Sciences Center, 80262, Denver, CO, USA
D. Patterson
Department of Biochemistry, Biophysics and Genetics, University of Colorado Health Sciences Center, 80262, Denver, CO, USA
D. Patterson
Department of Basic and Clinical Research, Scripps Clinic and Research Foundation, 92037, La Jolla, CA, USA
D. Harker & Shobhana Vora
- Margaret Van Keuren
You can also search for this author inPubMed Google Scholar
- H. Drabkin
You can also search for this author inPubMed Google Scholar
- Iris Hart
You can also search for this author inPubMed Google Scholar
- D. Harker
You can also search for this author inPubMed Google Scholar
- D. Patterson
You can also search for this author inPubMed Google Scholar
- Shobhana Vora
You can also search for this author inPubMed Google Scholar
Rights and permissions
About this article
Cite this article
Van Keuren, M., Drabkin, H., Hart, I.et al. Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.Hum Genet74, 34–40 (1986). https://doi.org/10.1007/BF00278782
Received:
Issue Date:
Share this article
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative