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 |
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| Authors: | Shobhana Vora M.D. Susan Durham Berengere de Martinville Donna L. George Uta Francke |
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| Affiliation: | (1) Division of Pediatric Hematology-Oncology, Department of Pediatrics, College of Physicians and Surgeons, Columbia University, 701 West 168th Street, 10032 New York, New York;(2) Department of Human Genetics, Yale University School of Medicine, 06510 New Haven, Connecticut;(3) Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland;(4) Babies Hospital, 3959 Broadway, 10032 New York, New York |
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| Abstract: | Human phosphofructokinase (PFK; EC 2.7.1.11) is under the control of three structural loci which encode muscle-type (M), liver-type (L), and platelet-type (P) subunits; human diploid fibroblasts and leukocytes express all three loci. In order to assign human PFKMlocus to a specific chromosome we have analyzed human × Chinese hamster somatic cell hybrids for the expression of human M subunits, using an anti-human M subunit-specific mouse monoclonal antibody. In 18 of 19 hybrids studied, the expression of the PFKMlocus segregated concordantly with the presence of chromosome 1 (discordancy rate 0.05) as indicated by chromosome and isozyme marker analysis. The discordancy rates for all the other chromosomes were 0.32 or greater, indicating that the PFKMlocus is on chromosome 1. For the regional mapping of PFKM,eight hybrids were studied that contained one of five distinct regions of chromosome 1. These results further localize the human PFKMlocus to region cen q32 of chromosome 1. |
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