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

The Biochemical journal | Apr 15, 1994

http://www.ncbi.nlm.nih.gov/pubmed/8172601

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 RIS Download

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

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Associated grants

  • Agency: NICHD NIH HHS, Id: HD21229

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