Loss of Drosophila A-type lamin C initially causes tendon abnormality including disintegration of cytoskeleton and nuclear lamina in muscular defects.
Loss of Drosophila A-type lamin C initially causes tendon abnormality including disintegration of cytoskeleton and nuclear lamina in muscular defects.
复制标题
果蝇A型核纤层蛋白C的缺失最初会导致肌腱异常，包括肌肉缺陷中细胞骨架和核纤层的解体。
DOI：
10.1016/j.ydbio.2012.08.001
复制
发表时间：
2013
影响因子：
2.7
通讯作者：
K. Furukawa
中科院分区：
文献类型：
--
作者：
Ryo Uchino;Yuki Nonaka;T. Horigome;S. Sugiyama;K. Furukawa
板层是核包膜结构的主要组成部分，对于核的结构和信息作用都是必需的。Lamins的突变会导致人类的一系列疾病，包括肌肉营养不良。我们在这里报道了果蝇A型lamin基因lamin C的缺失导致的肌腱缺陷导致的蛹变性死亡，这与Emery-Dreifuss肌营养不良症(EDMD)揭示的人类A型lamin的特征相吻合。在缺乏层蛋白C活性的肌腱细胞中，整体细胞形态受到影响，在肌腱细胞中显著表达的spectraplakin家族细胞骨架蛋白短路蛋白的组织逐渐解体，尤其是在细胞核周围，并与肌肉系统的退化密切相关。此外，通过将层蛋白C恢复到游击性表达细胞(包括肌腱细胞但不包括骨骼肌细胞)的表达，可以有效地挽救层蛋白C缺失突变体。因此，A-型层粘连蛋白C蛋白在果蝇肌肉组织中的关键作用是维持肌腱细胞的正常功能和形态。
Lamins are the major components of nuclear envelope architecture, being required for both the structural and informational roles of the nuclei. Mutations of lamins cause a spectrum of diseases in humans, including muscular dystrophy. We report here that the loss of the A-type lamin gene, lamin C in Drosophila resulted in pupal metamorphic lethality caused by tendon defects, matching the characteristics of human A-type lamin revealed by Emery–Dreifuss muscular dystrophy (EDMD). In tendon cells lacking lamin C activity, overall cell morphology was affected and organization of the spectraplakin family cytoskeletal protein Shortstop which is prominently expressed in tendon cells gradually disintegrated, notably around the nucleus and in a manner correlating well with the degradation of musculature. Furthermore, lamin C null mutants were efficiently rescued by restoring lamin C expression to shortstop-expressing cells, which include tendon cells but exclude skeletal muscle cells. Thus the critical function of A-type lamin C proteins in Drosophila musculature is to maintain proper function and morphology of tendon cells.
影响因子：
7.5
作者：
Delon, Isabelle;Brown, Nicholas H.
通讯作者：
Brown, Nicholas H.
影响因子：
3.4
作者：
Lee, Jerry S. H.;Hale, Christopher M.;Wirtz, Denis
通讯作者：
Wirtz, Denis
影响因子：
7.2
作者：
Worman, Howard J.;Ostlund, Cecilia;Wang, Yuexia
通讯作者：
Wang, Yuexia