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Biochim Biophys Acta
2012 Aug 01;18188:1952-61. doi: 10.1016/j.bbamem.2011.09.004.
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Connexins in epidermal homeostasis and skin disease.
Scott CA
,
Tattersall D
,
O'Toole EA
,
Kelsell DP
.
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The expression of multiple connexin (Cx) types in the epidermis, their differential expression during wound closure and the association of skin pathology with specific Cx gene mutations, are indicative of important functions for Cxs in the skin. In this review, we focus on the role of Cx proteins in the epidermis and during wound healing and discuss mutations in Cx genes which cause skin disease. This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and characteristics.
Fig. 2. Keratitis–ichthyosis–deafness (KID) syndrome. Rugose hyperkeratosis on the lower face (A), verrucous hyperkeratosis on the ear lobe (B) and extensive hyperkeratosis on the distal limbs and plantar surface of the feet (C) in a patient with the Cx26 mutation p.D50N.
Fig. 3. Erythrokeratoderma variabilis (EKV). Red/brown hyperkeratotic lesions on the trunk and limbs (A–C). Patient harbours the Cx30.3 mutation p.R98L, of unknown clinical significance (A). Patient has the Cx30.3 mutation p.M190L (B and C).
Fig. 4. Expression of the Cx31 EKV-causing mutant upregulates components of the unfolded protein response (UPR) pathway. The UPR components BiP/GRP78 (C and D) and ATF6 (G and H) are upregulated in HeLa cells overexpressing the mutant (C86S)Cx31-EGFP (D and H) but not the wild-type construct (WT)Cx31-EGFP (C and G). Furthermore, the ATF6 staining (H) has a more nuclear localisation in cells expressing (C86S)Cx31-EGFP compared to untransfected cells and cells expressing (WT)Cx31-EGFP, indicating that the cleaved amino-terminal portion has been translocated to the nucleus. The DAPI-stained nuclei are shown in blue.
