Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part III) |
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| Authors: | Cheon M S Kim S H Ovod V Kopitar Jerala N Morgan J I Hatefi Y Ijuin T Takenawa T Lubec G |
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| Affiliation: | (1) Department of Pediatrics, University of Vienna, Vienna, Austria, AT;(2) MAbs Development and Production, FIT Biotech Oyj Plc, Tampere, Finland, FI;(3) Department of Biochemistry and Molecular Biology, Jozef Stefan Institute, Ljubljana, Slovenia, SI;(4) Developmetal Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee, U.S.A., US;(5) Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, U.S.A., US;(6) Department of Biochemistry, The Institute of Medical Science, The University of Tokyo, Japan, JP |
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| Abstract: | Summary. Down syndrome (DS) is the most frequent genetic disorder with mental retardation and caused by trisomy 21. Although the gene dosage effect hypothesis has been proposed to explain the impact of extra chromosome 21 on the pathology of DS, a series of evidence that challenge this hypothesis has been reported. The availability of the complete sequences of genes on chromosome 21 serves now as starting point to find functional information of the gene products, but information on gene products is limited so far. We therefore evaluated expression levels of six proteins whose genes are encoded on chromosome 21 (synaptojanin-1, chromosome 21 open reading frame 2, oligomycin sensitivity confering protein, peptide 19, cystatin B and adenosine deaminase RNA-specific 2) in fetal cerebral cortex from DS and controls at 18–19 weeks of gestational age using Western blot analysis. Synaptojanin-1 and C21orf2 were increased in DS, but others were comparable between DS and controls, suggesting that the DS phenotype cannot be simply explained by gene dosage effects. We are systematically quantifying all proteins whose genes are encoded on chromosome 21 in order to provide a better understanding of the pathobiochemistry of DS at the protein level. These studies are of significance as they show for the first time protein levels that are carrying out specific function in human fetal brain with DS. Received August 12, 2002 Accepted September 12, 2002 Published online January 30, 2003 Authors' address: Prof. Dr. Gert Lubec, CChem, FRSC (UK) Department of Pediatrics, University of Vienna, Waehringer Guertel 18, A-1090 Vienna, Austria, Fax: +43-1-40400-3194, E-mail: gert.lubec@akh-wien.ac.at Abbreviations: ADAR2, adenosine deaminase RNA-specific 2; C21orf2, chromosome 21 open reading frame 2; DS, Down syndrome; NSE, neuron specific enolase; OSCP, oligomycin sensitivity conferring protein; PEP-19, peptide 19 |
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| Keywords: | : Adenosine deaminase RNA-specific 2 chromosome 21 Chromosome 21 open reading frame 2 Cystatin B Down syndrome Oligomycin sensitivity conferring protein Peptide 19 Synaptojanin-1 |
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