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Overexpression of liver-type phosphofructokinase (PFKL) in transgenic-PFKL mice: implication for gene dosage in trisomy 21.

The human liver-type subunit of the key glycolytic enzyme, phosphofructokinase (PFKL), is encoded by a gene residing on chromosome 21. This chromosome, when triplicated, causes the phenotypic expression of Down's syndrome (trisomy 21). Increased phosphofructokinase activity, a result of gene dosage, is commonly found in erythrocytes and fibroblasts from Down's syndrome patients. We describe the construction of transgenic mice overexpressing PFKL for use as a well-defined model system, in which the effects of PFKL overexpression in various tissues, and throughout development, can be studied. Mice transgenic for a murine PFKL 'gene cDNA' hybrid construct were found to overexpress PFKL in a tissue-specific manner resembling that of the endogenous enzyme. Although unchanged in adult brain, PFK specific activity was found to have been almost doubled in brains of embryonic transgenic-PFKL mice, suggesting that the extra copies of the PFKL gene are expressed during the developmental period. This pattern of overexpression of PFKL in brains of transgenic-PFKL mice suggests that gene-dosage effects may be temporally separated from some of their consequences, adding an additional layer of complexity to the analysis of gene dosage in trisomy 21.

Pubmed ID: 8172601


  • Elson A
  • Levanon D
  • Weiss Y
  • Groner Y


The Biochemical journal

Publication Data

April 15, 1994

Associated Grants

  • Agency: NICHD NIH HHS, Id: HD21229

Mesh Terms

  • Aging
  • Animals
  • Base Sequence
  • Brain
  • Chromosomes, Human, Pair 21
  • DNA Primers
  • Down Syndrome
  • Exons
  • Gene Expression
  • Humans
  • Introns
  • Kinetics
  • Liver
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Organ Specificity
  • Phosphofructokinase-1
  • Polymerase Chain Reaction
  • Reference Values
  • Sequence Deletion