Literature DB >> 6213050

Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody.

S Vora, S Durham, B de Martinville, D L George, U Francke.   

Abstract

Human phosphofructokinase (PFK; EC 2.7.1.11) is under the control of three structural loci which encode muscle-type (M), live-type (L), and platelet-type (P) subunits; human diploid fibroblasts and leukocytes express all three loci. In order to assign human PFKM locus to a specific chromosome we have analyzed human x 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 PFKM locus segregated concordantly with the presence of chromosome 1 (discordance rate 0.05) as indicated by chromosome and isozyme marker analysis. The discordance rates for all the other chromosomes were 0.32 or greater, indicating that the PFKM locus 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 PFKM locus to region cen leads to q32 chromosome 1.

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Year:  1982        PMID: 6213050     DOI: 10.1007/bf01538653

Source DB:  PubMed          Journal:  Somatic Cell Genet        ISSN: 0098-0366


  21 in total

1.  Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15.

Authors:  N Morrison; C Simpson; L Fothergill-Gilmore; E Boyd; J M Connor
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Authors:  R C Nichols; O Rudolphi; B Ek; R Exelbert; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Mapping of eight human chromosome 1 orthologs to cattle chromosomes 3 and 16.

Authors:  J E Beever; S R Fisher; G Guérin; H A Lewin
Journal:  Mamm Genome       Date:  1997-07       Impact factor: 2.957

4.  Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

Authors:  S Vora; S DiMauro; D Spear; D Harker; M J Danon
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

5.  Phosphofructokinase activity in fibroblasts aneuploid for chromosome 21.

Authors:  K G Annerén; J R Korenberg; C J Epstein
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

6.  Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.

Authors:  M Van Keuren; H Drabkin; I Hart; D Harker; D Patterson; S Vora
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

7.  Phosphofructokinase D from the epithelial cells of rat small intestine.

Authors:  S M Khoja; G L Kellett
Journal:  Biochem J       Date:  1983-11-01       Impact factor: 3.857

8.  Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Authors:  O Vasconcelos; K Sivakumar; M C Dalakas; M Quezado; J Nagle; M Leon-Monzon; M Dubnick; D C Gajdusek; L G Goldfarb
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-24       Impact factor: 11.205

9.  Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors:  J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

Review 10.  Molecular genetics of human chromosome 21.

Authors:  P C Watkins; R E Tanzi; S V Cheng; J F Gusella
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

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