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A truncated lamin A in the Lmna\(^{−/−}\) mouse line: Implications for the understanding of laminopathies

Please always quote using this URN: urn:nbn:de:bvb:20-opus-127281
  • During recent years a number of severe clinical syndromes, collectively termed laminopathies, turned out to be caused by various, distinct mutations in the human LMNA gene. Arising from this, remarkable progress has been made to unravel the molecular pathophysiology underlying these disorders. A great benefit in this context was the generation of an A-type lamin deficient mouse line (Lmna\(^{−/−}\)) by Sullivan and others,1 which has become one of the most frequently used models in the field and provided profound insights to many differentDuring recent years a number of severe clinical syndromes, collectively termed laminopathies, turned out to be caused by various, distinct mutations in the human LMNA gene. Arising from this, remarkable progress has been made to unravel the molecular pathophysiology underlying these disorders. A great benefit in this context was the generation of an A-type lamin deficient mouse line (Lmna\(^{−/−}\)) by Sullivan and others,1 which has become one of the most frequently used models in the field and provided profound insights to many different aspects of A-type lamin function. Here, we report the unexpected finding that these mice express a truncated Lmna gene product on both transcriptional and protein level. Combining different approaches including mass spectrometry, we precisely define this product as a C-terminally truncated lamin A mutant that lacks domains important for protein interactions and post-translational processing. Based on our findings we discuss implications for the interpretation of previous studies using Lmna\(^{−/−}\) mice and the concept of human laminopathies.show moreshow less

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Metadaten
Author: Daniel Jahn, Sabine Schramm, Martina Schnölzer, Clemens J. Heilmann, Chris G. de Koster, Wolfgang Schütz, Ricardo Benavente, Manfred Alsheimer
URN:urn:nbn:de:bvb:20-opus-127281
Document Type:Journal article
Faculties:Fakultät für Biologie / Theodor-Boveri-Institut für Biowissenschaften
Language:English
Parent Title (English):Nucleus
Year of Completion:2012
Volume:3
Issue:5
Pagenumber:463-474
Source:Nucleus 3:5, 463-474; doi:10.4161/nucl.21676
DOI:https://doi.org/10.4161/nucl.21676
Dewey Decimal Classification:5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Tag:A-type lamins; LMNA mutations; laminopathies; nuclear envelope; nuclear lamina; nuclear organization
Release Date:2016/09/07
Licence (German):License LogoCC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell