Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes

Hum Mol Genet. 2007 Feb 15;16(4):355-63. doi: 10.1093/hmg/ddl453. Epub 2006 Dec 12.

Abstract

Sarcoglycan is a membrane-associated protein complex found at the plasma membrane of cardiomyocytes and skeletal myofibers. Recessive mutations of delta-sarcoglycan that eliminate expression, and therefore function, lead to cardiomyopathy and muscular dystrophy by producing instability of the plasma membrane. A dominant missense mutation in the gene encoding delta-sarcoglycan was previously shown to associate with dilated cardiomyopathy in humans. To investigate the mechanism of dominantly inherited cardiomyopathy, we generated transgenic mice that express the S151A delta-sarcoglycan mutation in the heart using the alpha-myosin heavy-chain gene promoter. Similar to the human delta-sarcoglycan gene mutation, S151A delta-sarcoglycan transgenic mice developed dilated cardiomyopathy at a young age with enhanced lethality. Instead of placement at the plasma membrane, delta-sarcoglycan was found in the nucleus of S151A delta-sarcoglycan cardiomyocytes. Retention of delta-sarcoglycan in the nucleus was accompanied by partial nuclear sequestration of beta- and gamma-sarcoglycan. Additionally, the nuclear-membrane-associated proteins, lamin A/C and emerin, were mislocalized throughout the nucleoplasm. Therefore, the S151A delta-sarcoglycan gene mutation acts in a dominant negative manner to produce trafficking defects that disrupt nuclear localization of lamin A/C and emerin, thus linking together two common mechanisms of inherited cardiomyopathy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Nucleus / metabolism*
  • Lamin Type A / metabolism*
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutant Proteins / metabolism
  • Myocytes, Cardiac / metabolism*
  • Nuclear Envelope / metabolism
  • Nuclear Proteins / metabolism*
  • Protein Transport
  • Sarcoglycans / genetics
  • Sarcoglycans / metabolism*
  • Sarcolemma / metabolism

Substances

  • Lamin Type A
  • Membrane Proteins
  • Mutant Proteins
  • Nuclear Proteins
  • Sarcoglycans
  • emerin
  • lamin C