Summary
A 2.3-kb-long probe derived from the 5′ flanking region, the first exon and part of the first intron of the human muscle-specific phosphoglycerate mutase gene (PGAM-M) (EC 5.4.2.1) was used to map the gene by “in situ” chromosomal hybridization. The structural gene for PGAM-M was assigned to chromosome 7p12-7p13; a single hybridization peak indicated that there is a single gene for this isozyme of PGAM, and confirmed results obtained by Southern blot hybridization.
References
Barichard F, Joulin V, Henri I, Garel MC, Valentin C, Rosa R, Cohen-Solal M, Junien C (1987) Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q-34→7q22. Hum Genet 77:283–285
Bartrons R, Carreras J (1982) Purification and characterization of phosphoglycerate mutase isozymes from pig heart. Biochim Biophys Acta 708:167–177
Castella-Escola J, Ojcius DM, Le Boulch P, Joulin V, Blouquit Y, Garel MC, Valentin C, Rosa R, Climent-Romeo F, Cohen-Solal M (1989) Isolation and characterization of the gene coding for the muscle-specific isozyme of human phosphoglycerate mutase. Gene (accepted)
Di Mauro S, Miranda AF, Olarte M, Friedman R, Hays AP (1982) Muscle phosphoglycerate mutase deficiency. Neurology 32:584–591
Dutrillaux B (1975) Sur la nature et l'origine des chromosomes humains. (Monographie des Annales de Génétique) L'Expansion Scientifique, Paris
Fothergill-Gilmore (1986) The evolution of glycolytic pathway. Trends Biochem Sci 11:47–51
Freytag SO, Bock HG, Beaudet AL, O'Brien WE (1984) Molecular structures of human arginosuccinate synthase pseudogenes. Evolutionary and mechanistic implications. J Biol Chem 259:3160–3166
Human Gene Mapping 9 (1987) 9th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 46:1–762
Junien C, Despoisse S, Turleau C, Grouchy J de, Bucher T, Fundele R (1982) Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26. 1 (or q25. 3). Ann Génét (Paris) 25:25–27
Le Boulch P, Joulin V, Garel MC, Rosa J, Cohen-Solal M (1988) Molecular cloning and nucleotide sequence of the murine 2,3-bisphosphoglycerate mutase cDNA. Biochem Biophys Res Commun 156:874–881
Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Mezquita J, Carreras J (1981) Phylogeny and ontogeny of the phosphoglycerate mutases. I. Electrophoretic phenotypes of the glycerate 2,3-P2 dependent phosphoglycerate mutase in vertebrates. Comp Biochem Physiol 70B:237–245
Omnen GS, Hermodson MA (1975) Human phosphoglycerate mutase: isozyme markers for muscle differentiation and for neoplasia. In: Markert Ch (ed) Isozymes III: developmental biology. Academic Press, New York London, pp 1005–1018
Sakoda S, Shanske S, Di Mauro S, Schon EA (1988) Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. J Biol Chem 263:16899–16905
Shanske S, Sakoda S, Hermodson MA, Di Mauro S, Schon EA (1987) Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem 262:14612–14617
Szabo P, Grzeschik KH, Siniscalco M (1984) A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci USA 81:3167–3169
Tsui LP (1988) Genetic markers on chromosome 7. J Med Genet 25:294–306
Vandeberg JL, Cooper DW, Close PJ (1973) Mammalian testis phosphoglycerate kinase. Nature New Biol 243:48–50
Zasloff M, Ginder GD, Felsenfeld G (1978) A new method for the purification and identification of covalently closed circular DNA molecules. Nucleic Acids Res 6:1139–1145
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Castella-Escola, J., Mattei, M.G., Ojcius, D.M. et al. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. Hum Genet 84, 210–212 (1990). https://doi.org/10.1007/BF00208945
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00208945