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Embryonic heart and skin defects in mice lacking plakoglobin
C Bierkamp1, K J Mclaughlin, H Schwarz
1Department of Molecular Embryology, Max Planck Institute for Immunobiology, Stübeweg 51, Freiburg, D-79108, Germany. kemler@immunbio.mpg.de
Developmental Biology
|December 15, 1996
Summary
Plakoglobin is essential for desmosome structure and function. Its absence in mice causes severe heart defects and skin blistering, mimicking human epidermolytic hyperkeratosis.
Area of Science:
- Cell biology
- Developmental biology
- Genetics
Background:
- Plakoglobin is a key protein in cell adhesion complexes, including desmosomes and adherens junctions.
- It shares homology with beta-catenin and armadillo, suggesting potential roles in signaling pathways.
Purpose of the Study:
- To investigate the developmental role of plakoglobin in mice.
- To determine the structural and functional consequences of plakoglobin deficiency.
Main Methods:
- Gene inactivation in embryonic stem cells via homologous recombination.
- Generation of plakoglobin-null transgenic mice.
- Embryonic and postnatal developmental analysis, including ultrastructural examination.
Main Results:
- Plakoglobin null-mutant embryos exhibited embryonic lethality around day 10.5 due to severe heart defects.
- Some mutant mice survived to birth with cardiac dysfunction, skin blistering, and subcorneal acantholysis.
- Ultrastructural analysis showed reduced numbers and altered structure of desmosomes in plakoglobin-deficient tissues.
Conclusions:
- Plakoglobin is indispensable for the structural integrity and function of desmosomes.
- Plakoglobin deficiency leads to developmental defects, particularly in the heart and skin.
- The observed skin phenotype parallels human epidermolytic hyperkeratosis, highlighting plakoglobin's clinical relevance.