Mutational analyses of the signals involved in the subcellular location of DSCRI

Mutational analyses of the signals involved in the subcellular location of DSCRI

Autor Pfister, S. C. Google Scholar
Machado-Santelli, G. M. Google Scholar
Han, Sang Won Autor UNIFESP Google Scholar
Henrique-Silva, F. Google Scholar
Instituição Universidade Federal de São Carlos (UFSCar)
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Resumo Background: Down syndrome is the most frequent genetic disorder in humans. Rare cases involving partial trisomy of chromosome 21 allowed a small chromosomal region common to all carriers, called Down Syndrome Critical Region ( DSCR), to be determined. the DSCR1 gene was identified in this region and is expressed preferentially in the brain, heart and skeletal muscle. Recent studies have shown that DSCR1 belongs to a family of proteins that binds and inhibits calcineurin, a serine-threonine phosphatase. the work reported on herein consisted of a study of the subcellular location of DSCR1 and DSCR1-mutated forms by fusion with a green fluorescent protein, using various cell lines, including human.Results: the protein's location was preferentially nuclear, independently of the isoform, cell line and insertion in the GFP's N- or C-terminal. A segment in the C-terminal, which is important in the location of the protein, was identified by deletion. On the other hand, site-directed mutational analyses have indicated the involvement of some serine and threonine residues in this event.Conclusion: in this paper, we discuss the identification of amino acids which can be important for subcellular location of DSCR1. the involvement of residues that are prone to phosphorylation suggests that the location and function of DSCR1 may be regulated by kinases and/or phosphatases.
Idioma Inglês
Data de publicação 2002-09-11
Publicado em Bmc Cell Biology. London: Biomed Central Ltd, v. 3, 8 p., 2002.
ISSN 1471-2121 (Sherpa/Romeo, fator de impacto)
Publicador Biomed Central Ltd
Extensão 8
Fonte http://dx.doi.org/10.1186/1471-2121-3-24
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000178247900001
Endereço permanente http://repositorio.unifesp.br/handle/11600/26976

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