The ETS transcription factor GABPα is encoded by a gene on HSA21 and interacts with an ankyrin repeat-containing β subunit to form the GABP complex. GABP regulates expression of genes involved in mitochondrial respiration and neuromuscular signalling. When GABPα mRNA is overexpressed in human DS fibroblast cell lines, or by tranfection in NIH3T3 cells, no increase in protein level is detected. However, increased Gabpα gene dosage in the Ts65Dn segmental trisomy mouse model of DS (DS) results in elevated Gabpα protein levels in brain and skeletal muscle only. These findings suggest that GABPα protein levels are tightly regulated in a tissue-specific manner, and consequently GABP may play a role in DS pathologies in tissues where GABPα protein levels are elevated.
|Number of pages||7|
|Journal||Biochimica et Biophysica Acta - Molecular Basis of Disease|
|Publication status||Published - 24 Dec 2004|
- Down syndrome
- GA-binding protein
- Tissue-specific regulation