Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism
doi: 10.1093/hmg/ddv317
pmid: 26251042
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive. Here, we show that EKV-pathogenic Cx31 mutants are un/misfolded and temperature sensitive. In Drosophila, expression of pathogenic Cx31, but not wild-type Cx31, causes depigmentation and degeneration of ommatidia that are rescued by expression of either dBip or dHsp70. Ectopic expression of Cx31 in mouse skin results in skin abnormalities resembling human EKV. The affected tissues show remarkable disrupted gap junction formation and significant upregulation of chaperones Bip and Hsp70 as well as AP-1 proteins c-Fos and JunB, in addition to molecular signatures of skin diseases. Consistently, c-Fos, JunB, Bip and Hsp70 are strikingly higher in keratinocytes of EKV patients than their matched control individuals. Furthermore, a druggable AP-1 inhibitory small molecule suppresses skin phenotype and pathological abnormalities of transgenic Cx31 mice. The study suggests that Cx31 mutant proteins are un/misfolded to cause EKV likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease.
- Central South University China (People's Republic of)
- Third Xiangya Hospital China (People's Republic of)
- Illumina (United States) United States
Protein Folding, Pigmentation, Recombinant Fusion Proteins, Isoxazoles, Connexins, Animals, Genetically Modified, Benzophenones, Mice, Mutation, Animals, Drosophila Proteins, Humans, Drosophila, HSP70 Heat-Shock Proteins, Compound Eye, Arthropod, Erythrokeratodermia Variabilis, Proteostasis Deficiencies, Proto-Oncogene Proteins c-fos, HeLa Cells, Protein Unfolding
Protein Folding, Pigmentation, Recombinant Fusion Proteins, Isoxazoles, Connexins, Animals, Genetically Modified, Benzophenones, Mice, Mutation, Animals, Drosophila Proteins, Humans, Drosophila, HSP70 Heat-Shock Proteins, Compound Eye, Arthropod, Erythrokeratodermia Variabilis, Proteostasis Deficiencies, Proto-Oncogene Proteins c-fos, HeLa Cells, Protein Unfolding
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