Expressão heteróloga e localização subcelular de seis proteínas possivelmente envolvidas com a Síndrome de Down.
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2004-12-07Autor
Justino, Daniela Morilha Néo
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Down syndrome (DS) is the most common congenital disease occurring in
approximately 1 out of 700 live births. In addition to the full HC21 trisomy, rare
individuals with clinically recognized DS have only a partial trisomy, carrying a region
common to all patients dubbed as Down Syndrome Critical Region (DSCR). Several genes
contained in this portion of the HC21 are probably related to the DS phenotypes. In an
attempt to characterize some of the DSCR genes, heterologous expression and subcellular
localization analyses were performed for the genes DCRB (DSCR4), c21orf45, c21orf59,
c21orf83-2, c21orf 95 and c21orf101. Analyses of the recombinant proteins produced in
Escherichia coli showed that most of them remained in the insoluble fraction. DCRB was
expressed as a soluble protein in E. coli Rosetta (DE3), purified and subjected to assays for
secondary structure analyses. Also, deletion and site directed mutagenesis as well as the
production of polyclonal antisera against DCRB were performed. Subcellular localization
analyses revealed that the proteins DCRB, c21orf45, c21orf59 and c21orf83-2 were
distributed in the cytoplasm of mammalian cells and that c21orf95 and c21orf101 resided
in the nucleus. Considering the lack of information concerning these proteins encoded in
the DSCR our results allowed a insight into some of the proteins provably involved in
Down syndrome.