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desmosomes

Sunday 13 July 2003

Definition: Specialized cell junctions that are formed by desmosomal cadherins and additional associated proteins into which intermediate filaments are inserted. Also known as macula adherens junctions or spot desmosomes.

Desmosomes are essential adhesion structures in most epithelia that link the intermediate filament network of one cell to its neighbor, thereby forming a strong bond.

Desmosomes are the most common type of intercellular junction in vertebrate epithelial cells. They are characterized by 2 forms of interaction with other cellular structures.

First, they form membrane anchorage sites for intermediate-size filaments, which are seen as electron-dense plaques evident beneath the plasma membrane.

Second, a specific membrane core domain interacts with a corresponding domain of the plasma membrane of an adjacent cell, apparently mediating intercellular adhesion in a stable way.

The desmosome intermediate filament complex is thought to impart tensile strength and resilience to the epithelium.

Desmosomal proteins can be divided into 2 groups based on whether they fractionate with the urea-insoluble ’core’ or the urea-soluble ’plaque’ components. Desmoglein (MIM.125670) is, for example, a protein of the core. The main proteins of the plaque comprise the desmoplakins and plakoglobin (MIM.173325).

Components

- cadherin superfamily (desmosomal cadherins)(MIM.114020)

  • desmogleins (MIM.125670)
  • desmocollins (MIM.125643)

- plakin family (MIM.125647)

  • armadillo repeat protein family (MIM.602269)
  • plakophilin

- pinin (MIM.603154)

- desmoplakins (desmoplakin-1 and desmoplakin-2)(MIM.125647)

Molecular pathology of desmosomes

- pemphigus foliaceum: inactivation of desmoglein-1 by an autoantibody
- type I striate palmoplantaris keratosis: inactivation of desmoglein-1 by genic mutation
- pemphigus vulgaris: inactivation of desmoglein-3 by an autoantibody
- localized autosomal recessive hypotrichosis (LAH): inactivation of desmoglein-4 by genic mutation in (MIM.607903)
- type II striate palmoplantaris keratosis: inactivation of desmoplakin by genic mutation
- generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and a dilated left ventricular cardiomyopathy: inactivation of desmoplakin by genic mutation
- skin fragility-woolly hair syndrome (MIM.607655): inactivation of desmoplakin by genic mutation
- arrhythmogenic right ventricular dysplasia mapping to 6p24 (MIM.607450): inactivation of desmoplakin by genic mutation

References

- Payne AS, Hanakawa Y, Amagai M, Stanley JR. Desmosomes and disease: pemphigus and bullous impetigo. Curr Opin Cell Biol. 2004 Oct;16(5):536-43. PMID: 15363804

- Huber O. Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci. 2003 Sep;60(9):1872-90. PMID: 14523549

- Kitajima Y. Mechanisms of desmosome assembly and disassembly. Clin Exp Dermatol. 2002 Nov;27(8):684-90. PMID: 12472547

- Chidgey M. Desmosomes and disease: an update. Histol Histopathol. 2002 Oct;17(4):1179-92. PMID: 12371146

- McMillan JR, Shimizu H. Desmosomes: structure and function in normal and diseased epidermis. J Dermatol. 2001 Jun;28(6):291-8. PMID: 11476106

- Green KJ, Gaudry CA. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol. 2000 Dec;1(3):208-16. PMID: 11252896

- Cozzani E, Cacciapuoti M, Parodi A, Ghohestani R, Rebora A. Desmosomes and their autoimmune pathologies. Eur J Dermatol. 2000 Jun;10(4):255-61. PMID: 10846249

- Zillikens D. Acquired skin disease of hemidesmosomes. J Dermatol Sci. 1999 Jun;20(2):134-54. PMID: 10379705

- Kowalczyk AP, Bornslaeger EA, Norvell SM, Palka HL, Green KJ. Desmosomes: intercellular adhesive junctions specialized for attachment of intermediate filaments. Int Rev Cytol. 1999;185:237-302. PMID: 9750269

- Lin MS, Mascaro JM Jr, Liu Z, Espana A, Diaz LA. The desmosome and hemidesmosome in cutaneous autoimmunity. Clin Exp Immunol. 1997 Jan;107 Suppl 1:9-15. PMID: 9020929

- Garrod D, Chidgey M, North A. Desmosomes: differentiation, development, dynamics and disease. Curr Opin Cell Biol. 1996 Oct;8(5):670-8. PMID: 8939650

- Garrod DR. Desmosomes and hemidesmosomes. Curr Opin Cell Biol. 1993 Feb;5(1):30-40. PMID: 8448028

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