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p0071是犰狳多基因家族的成员之一,是人类骨骼肌肌节I带的组成成分。

p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle.

作者信息

Schröder R, van der Ven P F, Warlo I, Schumann H, Fürst D O, Blümcke I, Schmidt M C, Hatzfeld M

机构信息

Department of Neurology, University Hospital Bonn, Germany.

出版信息

J Muscle Res Cell Motil. 2000;21(6):577-86. doi: 10.1023/a:1026587530656.

Abstract

p0071 is a member of the armadillo gene family that is expressed in a wide variety of mammalian tissues and cell types with a prominent cell-cell contact association in epithelial cells. Here, we report the expression and localization patterns of p0071 in differentiating human skeletal muscle cells and in normal and diseased human skeletal muscle tissues. Northern blots revealed expression of p0071 mRNA in adult skeletal muscle tissue. RT-PCR analysis and Western blotting experiments identified two differentially spliced isoforms of p0071. The balance between these isoforms shifted during in vitro differentiation of isolated muscle cells from predominant expression of the short variant to a preponderance of the larger variant from day 6 onwards. Immunolocalization studies in mature skeletal muscle tissue revealed that p0071 is a constituent of myofibrils with a distinct localization at the level of sarcomeric N2-lines. During myofibrillogenesis, p0071 was not detected in non-striated nascent myofibrils, but became apparent shortly after the development of compact Z-discs in early myotubes. Furthermore, we studied the expression of p0071 in a wide variety of neuromuscular disorders by indirect immunofluorescence. Here, the myofibrillar staining of p0071 was preserved in all the disease entities included in our study. Our results provide the first evidence that a member of the armadillo multigene family is a constituent of the contractile apparatus in human skeletal muscle. The localization of p0071 at the level of I-bands and the timepoint of its integration into developing myofibrils suggest a possible role in the organization of thin filaments.

摘要

p0071是犰狳基因家族的成员,在多种哺乳动物组织和细胞类型中表达,在上皮细胞中具有显著的细胞间接触关联。在此,我们报告p0071在分化的人骨骼肌细胞以及正常和患病的人骨骼肌组织中的表达和定位模式。Northern印迹显示p0071 mRNA在成人骨骼肌组织中有表达。RT-PCR分析和蛋白质印迹实验鉴定出p0071的两种差异剪接异构体。在体外分离的肌肉细胞分化过程中,这些异构体之间的平衡发生了变化,从第6天起,从主要表达短变体转变为较大变体占优势。成熟骨骼肌组织中的免疫定位研究表明,p0071是肌原纤维的组成部分,在肌节N2线水平具有独特的定位。在肌原纤维形成过程中,在无横纹的新生肌原纤维中未检测到p0071,但在早期肌管中致密Z盘形成后不久就变得明显。此外,我们通过间接免疫荧光研究了p0071在多种神经肌肉疾病中的表达。在此,我们研究中纳入的所有疾病实体中p0071的肌原纤维染色均得以保留。我们的结果提供了首个证据,表明犰狳多基因家族的一个成员是人类骨骼肌收缩装置的组成部分。p0071在I带水平的定位及其整合到发育中的肌原纤维的时间点表明其在细肌丝组织中可能发挥作用。

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