A truncated lamin A in the Lmna -/- mouse line: implications for the understanding of laminopathies.

ABSTRACT: 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 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 th

SUBMITTER: Jahn D 

PROVIDER: S-EPMC3474667 | biostudies-literature | 2012 Sep-Oct

REPOSITORIES: biostudies-literature