A lamin A/C variant causing striated muscle disease provides insights into filament organization
A lamin A/C variant causing striated muscle disease provides insights into filament organization
复制标题
导致横纹肌疾病的核纤层蛋白 A/C 变异提供了对肌丝组织的深入了解
DOI：
10.1101/2020.10.20.347088
复制
发表时间：
2020
影响因子：
4
通讯作者：
O. Medalia
中科院分区：
文献类型：
--
作者：
R. Kronenberg;M. Tatli;M. Eibauer;Wei Wu;Ji;G. Bonne;H. Worman;O. Medalia
ABSTRACT The LMNA gene encodes the A-type lamins, which polymerize into ∼3.5-nm-thick filaments and, together with B-type lamins and associated proteins, form the nuclear lamina. Mutations in LMNA cause a wide variety of pathologies. In this study, we analyzed the nuclear lamina of embryonic fibroblasts from LmnaH222P/H222P mice, which develop cardiomyopathy and muscular dystrophy. Although the organization of the lamina appeared unaltered, there were changes in chromatin and B-type lamin expression. An increase in nuclear size and consequently a relative reduction in heterochromatin near the lamina allowed for a higher resolution structural analysis of lamin filaments using cryo-electron tomography. This was most apparent when visualizing lamin filaments in situ and using a nuclear extraction protocol. Averaging of individual segments of filaments in LmnaH222P/H222P mouse fibroblasts resolved two polymers that constitute the mature filaments. Our findings provide better views of the organization of lamin filaments and the effect of a striated muscle disease-causing mutation on nuclear structure. Highlighted Article: The lamin A/C H222P laminopathy mutation provides insights into lamin substructure organization.
登录
查看更多内容
影响因子：
3
作者：
Tang, Guang;Peng, Liwei;Ludtke, Steven J.
通讯作者：
Ludtke, Steven J.
影响因子：
3
作者：
Mastronarde, DN
通讯作者：
Mastronarde, DN
Emery-Dreifuss 肌营养不良症、心肌病和 Dunnigan 型部分脂肪营养不良中发现的核纤层蛋白 A 突变体的特性。
影响因子：
4
作者：
Ostlund,C;Bonne,G;Schwartz,K;Worman,HJ
通讯作者：
Worman,HJ
IMOD中的自动倾斜系列对齐和断层摄影重建。
影响因子：
3
作者：
Mastronarde DN;Held SR
通讯作者：
Held SR
核力学和癌细胞迁移。
影响因子：
--
作者：
Pfeifer,CharlotteR;Irianto,Jerome;Discher,DennisE
通讯作者：
Discher,DennisE