| Title: |
A lamin A/C variant causing striated muscle disease provides insights into filament organization |
| Authors: |
Kronenberg-Tenga, Rafael; Tatli, Meltem; Eibauer, Matthias; Wu, Wei; Shin, Ji-Yeon; Bonne, Gisèle; Worman, Howard J; Medalia, Ohad |
| Source: |
Kronenberg-Tenga, Rafael; Tatli, Meltem; Eibauer, Matthias; Wu, Wei; Shin, Ji-Yeon; Bonne, Gisèle; Worman, Howard J; Medalia, Ohad (2021). A lamin A/C variant causing striated muscle disease provides insights into filament organization. Journal of Cell Science, 134(6):jcs256156. |
| Publisher Information: |
The Company of Biologists |
| Publication Year: |
2021 |
| Collection: |
University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| Subject Terms: |
Department of Biochemistry; 570 Life sciences; biology; 610 Medicine & health |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
0021-9533 |
| Relation: |
https://www.zora.uzh.ch/id/eprint/209838/1/Kornenberg-Tenga_et_al_2021.pdf; info:pmid/33536248; urn:issn:0021-9533 |
| DOI: |
10.1242/jcs.256156 |
| Availability: |
https://www.zora.uzh.ch/id/eprint/209838/; https://doi.org/10.1242/jcs.256156 |
| Rights: |
info:eu-repo/semantics/openAccess ; Creative Commons: Attribution 4.0 International (CC BY 4.0) ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.2AA00379 |
| Database: |
BASE |