(1) MRC Human Genetics Unit, Crewe Road, EH4 2XU Edinburgh, UK;(2) Departments of Medicine and of Anatomy and Cell Biology, College of Physicians, Columbia University, 10032, New York, NY, USA
Abstract:
Background
Recent interest in the function of the nuclear lamina has been provoked by the discovery of lamin A/C mutations in the laminopathy diseases. However, it is not understood why mutations in lamin A give such a range of tissue-specific phenotypes. Part of the problem in rationalising genotype-phenotype correlations in the laminopathies is our lack of understanding of the function of normal and mutant lamin A. To investigate this we have used photobleaching in human cells to analyse the dynamics of wild-type and mutant lamin A protein at the nuclear periphery.