%0 Journal Article
%T Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation
%A Nolwenn Briand
%A Philippe Collas
%J Archive of "Nucleus".
%D 2018
%R 10.1080/19491034.2018.1449498
%X The nuclear lamina contributes to the regulation of gene expression and to chromatin organization. Mutations in A-type nuclear lamins cause laminopathies, some of which are associated with a loss of heterochromatin at the nuclear periphery. Until recently however, little if any information has been provided on where and how lamin A interacts with the genome and on how disease-causing lamin A mutations may rearrange genome conformation. Here, we review aspects of nuclear lamin association with the genome. We highlight recent evidence of reorganization of lamin A-chromatin interactions in cellular models of laminopathies, and implications on the 3-dimensional rearrangement of chromatin in these models, including patient cells. We discuss how a hot-spot lipodystrophic lamin A mutation alters chromatin conformation and epigenetic patterns at an anti-adipogenic locus, and conclude with remarks on links between lamin A, Polycomb and the pathophysiology of laminopathies. The recent findings presented here collectively argue towards a deregulation of large-scale and local spatial genome organization by a subset of lamin A mutations causing laminopathies
%K chromatin
%K differentiation
%K LAD
%K lamin A/C
%K genome conformation
%K 3D genome
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973257/