The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

European Journal of Human Genetics : EJHG
I HoltG E Morris

Abstract

Most pathogenic missense mutations in the lamin A/C gene identified so far cause autosomal-dominant dilated cardiomyopathy and/or Emery-Dreifuss muscular dystrophy. A few specific mutations, however, cause a disease with remarkably different clinical features: FPLD, or familial partial lipodystrophy (Dunnigan-type), which mainly affects adipose tissue. We have prepared lamin A with a known FPLD mutation (R482Q) by in vitro mutagenesis. Nuclear targeting of lamin A in transfected COS cells, human skeletal muscle cells or mouse adipocyte cell cultures (pre- and post-differentiation) was not detectably affected by the mutation. Quantitative in vitro measurements of lamin A interaction with emerin using a biosensor also showed no effect of the mutation. The results show that the loss of function of R482 in lamin A/C in FPLD does not involve loss of ability to form a nuclear lamina or to interact with the nuclear membrane protein, emerin.

References

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Citations

Jun 18, 2002·Current Opinion in Cell Biology·James M HolaskaMalini Mansharamani
Dec 24, 2002·Trends in Cell Biology·Howard J Worman, Jean-Claude Courvalin
Dec 6, 2001·Trends in Molecular Medicine·G E Morris
May 21, 2003·European Journal of Biochemistry·Fiona L WilkinsonGlenn E Morris
Feb 3, 2004·The Journal of Clinical Investigation·Vesna NikolovaDiane Fatkin
Oct 6, 2001·Biochemical and Biophysical Research Communications·I HoltG E Morris
Feb 8, 2006·Proceedings of the National Academy of Sciences of the United States of America·Dayle McClintockKarima Djabali
Mar 28, 2003·Muscle & Nerve·Cecilia Ostlund, Howard J Worman
Feb 22, 2014·Current Opinion in Genetics & Development·Teresa R LuperchioKaren L Reddy
Jun 3, 2014·Current Opinion in Cell Biology·Xianrong WongKaren L Reddy
Dec 26, 2002·Journal of Molecular Recognition : JMR·Rebecca L Rich, David G Myszka
Oct 21, 2004·The Journal of Pathology·Jos L V BroersFrans C S Ramaekers
Dec 14, 2007·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Merce MirandaJoan Vendrell
Nov 5, 2002·Nature Reviews. Molecular Cell Biology·Christopher J Hutchison
Oct 26, 2005·Human Mutation·Matthew R G TaylorUNKNOWN Familial Cardiomyopathy Registry Research Group
Jan 21, 2003·Archives of Dermatology·Iris K Aronson, Virginia C Fiedler
Jun 5, 2003·Journal of Cell Science·Ian HoltGlenn E Morris

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