Connexins: a connection with the skin.
The intercellular signaling system mediated by connexin channels is crucial for maintaining tissue homeostasis, growth control, development, and synchronized response of cells to stimuli. This review summarizes the structure, assembly, and properties of the components of the complex and diverse connexin system, and their biological functions in skin. The importance of gap junctional intercellular communication for normal development and differentiation of human epidermis as well as the hearing function of the inner ear is illustrated by the examples of erythrokeratodermia variabilis and palmoplantar keratoderma associated with hearing loss. These autosomal dominant inherited disorders are caused by germline mutations in the connexin genes GJB3 (encoding connexin-31) and GJB2 (encoding connexin-26), respectively. Recent functional studies of individual connexin mutations suggest that they may exert a dominant inhibitory effect on normal connexin channel function and perturb gap junctional intercellular communication, resulting in phenotypic manifestation in patients with these disorders.
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Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA. Gabriele.Richard@mail.tju.edu
D002450:Cell Communication / Q000502:physiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics / Q000502:physiology*; D007758:Ear, Inner / Q000502:physiology; D017629:Gap Junctions / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000502:physiology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D012879:Skin Physiological Phenomena
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26