Debra A. O'Leary, Melanie A. Pritchard, Dakang Xu, Ismail Kola , Paul J. Hertzog, Sika Ristevski
{"title":"Tissue-specific overexpression of the HSA21 gene GABPα: implications for DS","authors":"Debra A. O'Leary, Melanie A. Pritchard, Dakang Xu, Ismail Kola , Paul J. Hertzog, Sika Ristevski","doi":"10.1016/j.bbadis.2004.09.005","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>GABPα</em> mRNA is overexpressed in human DS fibroblast cell lines, or by tranfection in NIH3T3 cells, no increase in protein level is detected. However, increased <em>Gabpα</em> 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.</div></div>","PeriodicalId":8821,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":"1739 1","pages":"Pages 81-87"},"PeriodicalIF":4.2000,"publicationDate":"2004-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochimica et biophysica acta. Molecular basis of disease","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0925443904001632","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2004/9/19 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
BBA Molecular Basis of Disease addresses the biochemistry and molecular genetics of disease processes and models of human disease. This journal covers aspects of aging, cancer, metabolic-, neurological-, and immunological-based disease. Manuscripts focused on using animal models to elucidate biochemical and mechanistic insight in each of these conditions, are particularly encouraged. Manuscripts should emphasize the underlying mechanisms of disease pathways and provide novel contributions to the understanding and/or treatment of these disorders. Highly descriptive and method development submissions may be declined without full review. The submission of uninvited reviews to BBA - Molecular Basis of Disease is strongly discouraged, and any such uninvited review should be accompanied by a coverletter outlining the compelling reasons why the review should be considered.
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