%0 Journal Article
%T Mutational analyses of the signals involved in the subcellular location of DSCR1
%A Sandra Pfister
%A Gl¨˘ucia Machado-Santelli
%A Sang Won Han
%A Fl¨˘vio Henrique-Silva
%J BMC Cell Biology
%D 2002
%I BioMed Central
%R 10.1186/1471-2121-3-24
%X 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.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.Down syndrome (DS) is the genetic disease most frequently afflicting humans and is detected at a ratio of one out of every seven hundred births [1]. Although most of those affected have an extra copy of chromosome 21, a few more rare cases involving partial trisomy define a region common to all carriers of the syndrome, called Down Syndrome Critical Region (DSCR), which is purportedly involved with the carriers' anomalous phenotype [2,3].A gene located in this region, approximately 2 Mb above D21S55, has been dubbed DSCR1 ¨C Down Syndrome Candidate Region 1 [4]. The genomic sequence of DSCR1 totals 45 kb, including 7 exons and 6 introns, and analyses of different cDNAs have found that the first four exons are alternative and code for two isoforms of 197 amino acids and one isoform of 171 amino acids, which differ in the N-terminal, the last 168 residues being common [5]. Recent studies have indicated the presence of an alternative promoter region with approximately 900 bp, between exons 3 and 4, suggesting that the fourth isoform may derive from an alternative promoter [6]. Analyses by Northern blot have detected high levels of transcripts in brain, striated skeletal and cardiac muscles, placenta and kidney [4,5,7-9].Through the analysis of amino acid sequences, a high identity has been found between DSCR1 and the human pr
%U http://www.biomedcentral.com/1471-2121/3/24