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A truncated lamin A in the Lmna?/? mouse line

机译：Lmna中的截短的椎板A？鼠标线

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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) Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999; 147:913 - 20; http://dx.doi.org/10.1083/jcb.147.5.913; PMID: 10579712 [Crossref], [PubMed], [Web of Science ®]?[Google Scholar] 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.
机译：近年来，事实证明，许多严重的临床综合症统称为laminopathies，是由人LMNA基因的各种不同突变引起的。因此，在揭示这些疾病的分子病理生理学方面已取得了显着进展。在这种情况下，一个很大的好处是Sullivan等人产生了A型层粘连蛋白缺陷型小鼠系（ Lmna〜（？/？）），[1] Sullivan T，Escalante-Alcalde D，Bhatt H， Anver M，Bhat N，Nagashima K等。 A型核纤层蛋白表达的丧失会损害核膜的完整性，从而导致肌肉营养不良。 J Cell Biol 1999; 147：913-20; http://dx.doi.org/10.1083/jcb.147.5.913; PMID：10579712 [Crossref]，[PubMed]，[Web of Science®]？[Google Scholar]已成为该领域最常用的模型之一，并对A型层粘连蛋白功能的许多不同方面提供了深刻的见解。在这里，我们报告了出乎意料的发现，这些小鼠在转录和蛋白质水平上均表达了截短的Lmna基因产物。结合包括质谱在内的各种方法，我们将该产品精确定义为C末端截短的lamin A突变体，该突变体缺少对蛋白质相互作用和翻译后加工至关重要的域。基于我们的发现，我们讨论了对使用Lmna〜（？/？）小鼠进行的先前研究的解释的含义以及人的椎间盘突出症的概念。

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