Molecular and cellular characterization of the Down syndrome critical region protein 2.
Molecular and cellular characterization of the Down syndrome critical region protein 2.
复制标题
唐氏综合症关键区蛋白 2 的分子和细胞特征。
DOI：
10.1016/j.bbrc.2004.09.226
复制
发表时间：
2005
影响因子：
3.1
通讯作者：
Korenberg,JulieR
中科院分区：
文献类型：
--
作者：
Vesa,Jouni;Brown,Ying;Greenfield,Danielle;Korenberg,JulieR
唐氏综合症（DS）是由人类21号染色体三体引起的，是智力迟钝最常见的遗传原因。染色体长臂远端10Mb区域被认为与许多退行性椎体滑移的异常有关。这个区域通常被称为唐氏综合征关键区（DSCR）。我们在此报告我们对DSCR蛋白2 （DSCR2）的分析结果。瞬时转染COS-1和HEK293细胞的结果表明，DSCR2被合成为43kDa的前体蛋白，其n端被切割，产生41kDa的多肽。该多肽经过尚未鉴定的共修饰或翻译后修饰，使32.8kDa的预测分子量增加了约10kDa。通过体外诱变对唯一假定的n -糖基化位点进行分析，排除了n -糖基化对分子量增加的贡献的可能性。此外，细胞内定位研究和膜分离分析的结果表明，DSCR2以可溶性形式靶向细胞质室。
Down syndrome (DS) is caused by trisomy for human chromosome 21 and is the most common genetic cause of mental retardation. The distal 10Mb region of the long arm of the chromosome has been proposed to be associated with many of the abnormalities seen in DS. This region is often referred to as the Down syndrome critical region (DSCR). We report here the results of our analyses of the DSCR protein 2 (DSCR2). Results from transiently transfected COS-1 and HEK293 cells suggest that DSCR2 is synthesized as a 43kDa precursor protein, from which the N-terminus is cleaved resulting in a polypeptide of 41kDa. The polypeptide is modified by still uncharacterized co- or post-translational modifications increasing the predicted molecular weight of 32.8kDa by about 10kDa. Analyses of the only putative N-glycosylation site by in vitro mutagenesis excluded the possibility of the contribution of N-glycosylation to this increase in molecular weight. Further, the results of intracellular localization studies and membrane fractionation assays indicate that DSCR2 is targeted to a cytoplasmic compartment as a soluble form.