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Mothership of the Human Genome (Wilson Lab)
The cell nucleus surrounds, organizes and mechanically protects the genome. Lamin filament networks and nuclear membrane proteins support and influence most activities in the nucleus, with central and dynamic roles in customizing the 3D spatial organization of individual chromosomes needed for tissue-specific gene silencing. The functions and regulation of nuclear ‘lamina’ networks are an open frontier in biology. We focus on the biochemistry and regulation of three key components— Lamin A (LMNA), the nuclear membrane protein Emerin (EMD), and Barrier-to-Autointegration Factor (BANF1)— as the basis for understanding how variants in these proteins cause diseases including cardiomyopathy, muscular dystrophy, neuropathy, lipodystrophy, type 2 diabetes and accelerated aging (‘progeria’).