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Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation.

The desmoglein plays an important part in the formation of desmosomes. We constructed recombinant adenoviruses containing desmoglein 1 and desmoglein 3 derivatives partly lacking the extracellular domain (desmoglein 1DeltaEC and desmoglein 3DeltaEC, respectively), and full-length desmoglein 1 and desmoglein 3 and studied the involvement of desmoglein 1 and desmoglein 3 in desmosome formation. During low-level expression of desmoglein 3DeltaEC in transduced HaCaT cells, keratin insertion at cell-cell contact sites was only partially inhibited and desmoplakin was partially stained at cell-cell contact sites. Low-level expression of desmoglein 1DeltaEC, however, resulted in complete inhibition of keratin insertion at the cell-cell contact sites, and desmoplakin was stained in perinuclear dots. These results indicate the dominant-negative effect of desmoglein 1DeltaEC on desmosome formation was stronger than that of desmoglein 3DeltaEC. Desmoglein 1DeltaEC coprecipitated plakoglobin to approximately the same extent as desmoglein 3DeltaEC. Therefore, we conclude that the dominant-negative effect of desmoglein 1DeltaEC is not simply due to plakoglobin sequestration. On the other hand, during low-level expression of full-length desmoglein 3 and desmoglein 1, they both colocalized with desmoplakin. During high-level expression, however, keratin insertion at cell-cell contact sites was inhibited in desmoglein 1 but not in desmoglein 3, and desmoplakin was stained at cell-cell contact sites in desmoglein 3 but not in desmoglein 1. These data suggest desmoglein 1 and desmoglein 3 expressed at low level were incorporated into desmosome but at high-level expression, desmoglein 1 disrupted desmosomes but desmoglein 3 did not. Our findings provide biologic evidence that desmoglein 1 and desmoglein 3 play a different functional role in cell-cell adhesion of keratinocytes.

Cadherins↗

Desmocollin 1 and desmoglein 1 expression in human epidermis and keratinizing oral mucosa: a comparative immunohistochemical and molecular study.

Epidermis and keratinizing oral mucosa (KOM) are effective barriers against a wide spectrum of insults. The optimal form of protection provided by each epithelium is determined also by the molecular composition of desmosomes. Up to now, the expression of the "skin type" desmosomal cadherins, i.e. desmocollin 1 (Dsc1) and desmoglein 1 (Dsg1), was correlated with the morphological features of keratinocyte terminal differentiation in epidermis, but not in KOM. The aim of the present study was to investigate Dsc1 and Dsg1 expression in adult human KOM compared to epidermis. Biopsies of epidermis and KOM were obtained from young healthy adults (n=6) and simultaneously processed for immunofluorescence analysis, post-embedding immunogold electron microscopy (immunogold EM), and RT-PCR analysis. For molecular biology analysis, as a negative control, we considered human fibroblasts. By immunofluorescence and immunogold EM, Dsc1 labeling was not detected in any suprabasal layer of KOM, but it was present in the upper spinous/granular layers of epidermis. Immunofluorescence and transmission electron microscopy analysis showed that (i) Dsg1 expression was evident in the spinous, granular, and horny layer of the oral epithelium and (ii) Dsg1 immunoreactivity was always lower in desmosomes between oral keratinocytes than in all epidermal junctions. RT-PCR analysis confirmed that in KOM Dsc1 gene expression was undetectable. On the whole, these observations suggest a weakened adhesion in KOM, allowing oral keratinocytes to undergo a faster transition throughout the living layers of the epithelium. The intrinsic and specific regulation of the molecular composition of desmosomes can contribute in defining a specific keratinocyte phenotype in KOM and in epidermis.

Adult↗

[Desmoglein 1-negative, desmoglein 3-positive pemphigus herpetiformis with involvement of oral mucous membranes].

A 46-year-old woman presented with a two year history of pruritic erythematous plaques with blisters, as well as oral erosions. Even though the cutaneous lesions fit best with dermatitis herpetiformis, bullous pemphigoid or pemphigoid gestationis, the histologic examination revealed eosinophilic spongiosis, most compatible with some form of pemphigus. The identification of intercellular IgG deposition on direct immunofluorescence and circulating IgG pemphigus antibodies on indirect immunofluorescence microscopy led to diagnosis of pemphigus herpetiformis. This rare form of pemphigus does not often involve the oral mucosa. In our patient, the explanation is that she had antibodies against desmoglein 3 but not desmoglein 1. Treatment with prednisolone and azathioprine caused rapid and complete healing.

Azathioprine↗

Detection of pemphigus desmoglein 1 and desmoglein 3 autoantibodies and pemphigoid BP180 autoantibodies in saliva and comparison with serum values.

Although there is much literature on the detection of pemphigus and pemphigoid autoantibodies by enzyme-linked immunosorbent assay (ELISA) in serum, nothing is known about their presence in saliva. The aim of this study was to evaluate the salivary levels of these autoantibodies in pemphigus and pemphigoid patients. Autoantibodies against desmoglein3, desmoglein1, and BP180 were assayed, by ELISA, in serum and saliva samples of patients and healthy controls. The titres of autoantibodies against Dsg1/3 found in both serum and saliva of pemphigus patients showed a statistically significant correlation, suggesting that saliva may be a useful biological material for diagnostic purposes, in monitoring disease activity, as well as for the early detection of relapses. By contrast, the titres of autoantibodies against BP180 in the serum and saliva of bullous pemphigoid patients were not statistically related, and further study of the usefulness of the BP180 ELISA for saliva in this disease is needed. In addition, based on our results, the BP180 ELISA with a recombinant NC16a epitope failed to detect the autoantibodies against BP180 in the serum and saliva of mucous membrane pemphigoid patients.

Adult↗

Desmoglein 1 and desmoglein 3 are the target autoantigens in herpetiform pemphigus.

OBJECTIVE: To determine the cell surface autoimmune target of herpetiform pemphigus (HP). DESIGN: Serum samples of HP were examined by immunoblot studies with human epidermal extracts, enzyme-linked immunosorbent assay with baculovirus-expressed recombinant desmoglein (rDsg) 1 and rDsg3, and immunoadsorption assay with rDsg. PATIENTS: Twenty serum samples were obtained from patients with HP who have typical clinical and histological features. All serum samples showed positive staining against keratinocyte cell surfaces by indirect immunofluorescence studies with healthy human skin. RESULTS: Immunoblot results showed that of 17 HP serum samples, only 5 reacted with a 160-kd band and 1 reacted with a 130-kd band. Results of enzyme-linked immunosorbent assays with rDsg1 and rDsg3 demonstrated that of 20 HP serum samples, 16 were positive against Dsg1 and 4 were positive against Dsg3. No serum samples reacted with both. Furthermore, in 19 of 20 HP serum samples, immunoreactivity against keratinocyte cell surfaces was completely removed by preincubation with rDsg1 and rDsg3 as shown by indirect immunofluorescence, excluding a possibility that these HP sera contain autoantibodies against other cell surface molecules. CONCLUSIONS: Dsg1 and Dsg3 are the major cell surface target molecules of HP, suggesting that most cases of HP are clinical variants of pemphigus foliaceus and that the rest might be variants of pemphigus vulgaris.

Autoantigens↗

Pemphigus foliaceus IgG causes dissociation of desmoglein 1-containing junctions without blocking desmoglein 1 transinteraction.

Autoantibodies against the epidermal desmosomal cadherins desmoglein 1 (Dsg1) and Dsg3 have been shown to cause severe to lethal skin blistering clinically defined as pemphigus foliaceus (PF) and pemphigus vulgaris (PV). It is unknown whether antibody-induced dissociation of keratinocytes is caused by direct inhibition of Dsg1 transinteraction or by secondary cellular responses. Here we show in an in vitro system that IgGs purified from PF patient sera caused cellular dissociation of cultured human keratinocytes as well as significant release of Dsg1-coated microbeads attached to Dsg-containing sites on the keratinocyte cellular surface. However, cell dissociation and bead release induced by PF-IgGs was not caused by direct steric hindrance of Dsg1 transinteraction, as demonstrated by single molecule atomic force measurements and by laser trapping of surface-bound Dsg1-coated microbeads. Rather, our experiments strongly indicate that PF-IgG-mediated dissociation events must involve autoantibody-triggered cellular signaling pathways, resulting in destabilization of Dsg1-based adhesive sites and desmosomes.

Autoantibodies↗

IgA pemphigus--occurrence of anti-desmocollin 1 and anti-desmoglein 1 antibody reactivity in an individual patient.

BACKGROUND: IgA pemphigus is a rare pustular autoimmune disease with exclusive IgA anti-keratinocyte cell surface antibody reactivity. Two subtypes have been discerned: in the subcorneal pustular dermatosis type, desmocollin 1 has been identified as a targeted autoantigen, while in few cases of the intraepidermal neutrophilic type, IgA anti-desmoglein 1 or IgA anti-desmoglein 3 reactivity has been demonstrated. PATIENTS AND METHODS: A 48-year-old white male presented with generalized large confluent pustules. Skin pathology was assessed by histology and direct immunofluorescence analysis. IgG/IgA autoantibodies against desmoglein 1/3 and desmocollin 1 were measured by ELISA and indirect immunofluorescence using desmocollin 1 cDNA-transfected COS7 cells, respectively. RESULTS: Histopathology revealed subcorneal pustules and direct immunofluorescence microscopy exclusively showed in vivo bound IgA with an intercellular pattern in the epidermis. Desmocollin 1 was identified as a target of IgA autoantibodies by indirect immunofluorescence microscopy utilizing desmocollin 1 cDNA-transfected COS7 cells. In addition, IgA anti-desmoglein 1 reactivity was demonstrated by ELISA. Neither IgA anti-desmoglein 3 nor IgG anti-desmoglein 1/3 autoantibodies were present. CONCLUSIONS: Both desmocollin 1 and desmoglein 1 were autoantigens in this patient with IgA pemphigus and a distinct clinical presentation. To our knowledge, this is the first IgA pemphigus case with dual autoantibody reactivity.

Anti-Bacterial Agents↗

Changes in desmoglein 1 expression and subcellular localization in cultured keratinocytes subjected to anti-desmoglein 1 pemphigus autoimmunity.

The complexity of pemphigus acantholysis together with the weak expression of desmoglein 1 (Dsg1) in cultured keratinocytes have made the study on the pathogenic action of anti-Dsg1 antibodies quite difficult. The pathophysiology of the acantholytic phenomenon could depend on the reduction of Dsg1 adhesion function occurring after its massive internalization or decrease of its synthesis. Here, we have investigated this hypothesis by using sera of patients having antibodies against Dsg1 or monoclonal anti-Dsg1 antibodies to simulate pemphigus autoimmunity in Dsg1-rich keratinocytes. Similar to pemphigus foliaceus (PF) and vulgaris (PV) sera, monoclonal anti-Dsg1 antibodies induced transient internalization of Dsg1 and reduced the adhesion strength among keratinocytes. However, binding of IgG to Dsg1 did not determine its early depletion from the adhesion complexes but reduced the amount of Dsg1 found in the Triton X-100 soluble pool of proteins. Taken together, our results represent the first demonstration that anti-Dsg1 antibodies induce similar alterations on the subcellular distribution of Dsg1 irrespective of the disease where they come from. Furthermore, the present study provides insight into the mechanisms underlying epithelial blistering observed in the skin type of pemphigus.

Acantholysis↗

Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism.

Desmoglein 1 is the target antigen and probably the initiating immunogen of the autoantibody response in pemphigus foliaceus (PF), a blistering autoimmune skin disease. We previously showed that the desmoglein 1 gene (DSG1) is polymorphic and that one of its variants is associated with the sporadic form of PF observed in France. Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.

Adolescent↗

Targetting of desmoglein 1 in inherited and acquired skin diseases.

Desmoglein 1 is a member of the desmosomal cadherin family that comprise the desmogleins and desmocollins. The desmoglein 1 gene (DSG1) is centromeric to the desmoglein gene cluster and spans approximately 45 kb of 18q12, comprising 15 exons. The transcript encodes a precursor protein of 1049 amino acids that is cleaved to yield a mature protein of 1000 residues. This mature protein is expressed in certain specialized epithelia, and in the epidermis is expressed within the superficial layers. Within the desmosome the extracellular domain of the protein is essential for calcium dependent heterophilic binding to the desmocollins, whereas the intracellular domain is essential for binding to the desmosomal plaque protein, plakoglobin. Desmoglein 1 has been implicated in several human diseases. Mutations within the extracellular domain lead to autosomal dominant striate palmoplantar keratoderma, whereas autoantibodies and strains of Staphylococcus aureus target the extracellular domain in the acquired bullous disorders pemphigus foliaceus and staphylococcal scalded skin syndrome, respectively. Therefore, intact and functionally active desmoglein 1 is essential to epidermal integrity. Here, we review the expression, protein structure, genetics, and molecular interactions of desmoglein 1 and outline the role it plays within the desmosome and how it becomes defective in human disease.

Cytoskeletal Proteins↗

Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion.

Desmoglein 1 (Dsg1) is a component of desmosomes present in the upper epidermis and can be targeted by autoimmune antibodies or bacterial toxins, resulting in skin blistering diseases. These defects in tissue integrity are believed to result from compromised desmosomal adhesion; yet, previous attempts to directly test the adhesive roles of desmosomal cadherins using normally non-adherent L cells have yielded mixed results. Here, two complementary approaches were used to better resolve the molecular determinants for Dsg1-mediated adhesion: (1) a tetracycline-inducible system was used to modulate the levels of Dsg1 expressed in L cell lines containing desmocollin 1 (Dsc1) and plakoglobin (PG) and (2) a retroviral gene delivery system was used to introduce Dsg1 into normal human epidermal keratinocytes (NHEK). By increasing Dsg1 expression relative to Dsc1 and PG, we were able to demonstrate that the ratio of Dsg1:Dsc1 is a critical determinant of desmosomal adhesion in fibroblasts. The distribution of Dsg1 was organized at areas of cell-cell contact in the multicellular aggregates that formed in these suspension cultures. Similarly, the introduction of Dsg1 into NHEKs was capable of increasing the aggregation of single cell suspensions and further enhanced the adhesive strength of intact epithelial sheets. Endogenous Dsc1 levels were also increased in NHEKs containing Dsg1, providing further support for the coordination of these two desmosomal cadherins in regulating adhesive structures. These Dsg1-mediated effects on intercellular adhesion were directly related to the presence of an intact extracellular domain as ETA, a toxin that specifically cleaves this desmosomal cadherin, inhibited adhesion in both fibroblasts and keratinocytes. Collectively, these observations demonstrate that Dsg1 promotes the formation of intercellular adhesion complexes and suggest that the relative level of Dsg and Dsc expressed at the cell surface regulates this adhesive process.

Animals↗

The anti-desmoglein 1 autoantibodies in pemphigus vulgaris sera are pathogenic.

Pemphigus vulgaris and pemphigus foliaceus are two closely related, but clinically and histologically distinct, autoimmune skin diseases. The autoantigens for pemphigus vulgaris and pemphigus foliaceus are desmoglein 3 and desmoglein 1, respectively. The anti-desmoglein 1 antibodies in pemphigus foliaceus and anti-desmoglein 3 antibodies in pemphigus vulgaris are pathogenic as determined by immunoglobulin G passive transfer animal models. More than 50% of pemphigus vulgaris sera also contain anti-desmoglein 1 autoantibodies; however, the pathogenicity of the anti-desmoglein 1 autoantibodies in pemphigus vulgaris remains unknown. In this study, we used soluble recombinant extracellular domains of desmoglein 1 and desmoglein 3 to obtain affinity-purified anti-desmoglein 1 and anti-desmoglein 3 autoantibodies from pemphigus vulgaris sera and examined the pathogenicity of each fraction separately using the passive transfer mouse model. By immunoprecipitation, the purified anti-desmoglein 1 and anti-desmoglein 3 showed no cross-reactivity. The anti-desmoglein 1 autoantibodies in pemphigus vulgaris induced typical pemphigus foliaceus lesions in neonatal mice, whereas the anti-desmoglein 3 fraction induced pemphigus vulgaris-like lesions. In addition, the pathogenic anti-desmoglein 1 and anti-desmoglein 3 autoantibodies in pemphigus vulgaris had predominant IgG4 subclass specificity. These findings suggest that the anti-desmoglein 1 antibodies in pemphigus vulgaris are pathogenic.

Acantholysis↗

Staphylococcal exfoliative toxin B specifically cleaves desmoglein 1.

Staphylococcal scalded skin syndrome and its localized form, bullous impetigo, show superficial epidermal blister formation caused by exfoliative toxin A or B produced by Staphylococcus aureus. Recently we have demonstrated that exfoliative toxin A specifically cleaves desmoglein 1, a desmosomal adhesion molecule, that when inactivated results in blisters. In this study we determine the target molecule for exfoliative toxin B. Exfoliative toxin B injected in neonatal mice caused superficial epidermal blisters, abolished cell surface staining of desmoglein 1, and degraded desmoglein 1 without affecting desmoglein 3 or E-cadherin. When adenovirus-transduced cultured keratinocytes expressing exogenous mouse desmoglein 1 or desmoglein 3 were incubated with exfoliative toxin B, desmoglein 1, but not desmoglein 3, was cleaved. Furthermore, cell surface staining of desmoglein 1, but not that of desmoglein 3, was abolished when cryosections of normal human skin were incubated with exfoliative toxin B, suggesting that living cells were not necessary for exfoliative toxin B cleavage of desmoglein 1. Finally, in vitro incubation of the recombinant extracellular domains of desmoglein 1 and desmoglein 3 with exfoliative toxin B demonstrated that both mouse and human desmoglein 1, but not desmoglein 3, were directly cleaved by exfoliative toxin B in a dose-dependent fashion. These findings demonstrate that exfoliative toxin A and exfoliative toxin B cause blister formation in staphylococcal scalded skin syndrome and bullous impetigo by identical molecular pathophysiologic mechanisms.

Animals↗

Expression of desmoglein 1 compensates for genetic loss of desmoglein 3 in keratinocyte adhesion.

The desmoglein compensation hypothesis, namely that one desmoglein can compensate for loss of function of another, has been proposed to explain the tissue specificity of the autoantibody-induced loss of cell adhesion in pemphigus. To validate this hypothesis genetically, we used desmoglein-3 knockout mice (DSG3-/-) that lose their telogen hair prematurely due to loss of adhesion between keratinocytes of the telogen hair club and the outer root sheath, where the only desmoglein expressed in normal mice is desmoglein-3. To determine if desmoglein-1 could substitute for the function of desmoglein-3 in telogen hair, we produced transgenic mice that express desmoglein-1 driven off the keratin 14 promoter, and then bred the transgene (TG) into DSG3-/- mice. Immunoblotting showed transgene expression in skin, and immunofluorescence showed desmoglein-1 in the telogen club of DSG3-/-TG+ but not DSG3-/-TG- mice. DSG3-/-TG- mice lost telogen hair with each wave of telogen, whereas DSG3-/-TG+ mice had markedly delayed and decreased hair loss. DSG3-/- mice also show low weights due to blisters in the oral mucosa. Surprisingly, DSG3-/-TG+ mice showed similar low weights, because the transgene, although expressed in skin, was not well expressed in oral mucous membranes. These studies show that desmoglein-1 can compensate for loss of desmoglein-3-mediated adhesion, and provide genetic evidence confirming the desmoglein compensation hypothesis.

Animals↗

A novel mouse desmosomal cadherin family member, desmoglein 1 gamma.

The mouse desmogleins are members of the desmosomal cadherin superfamily, and are critical structural components of the desmosome. The genes encoding mouse desmogleins are tightly clustered within 600 kb of chromosome 18, within a desmosomal cadherin gene family also containing the three desmocollin genes. In this study, we have characterized a novel mouse desmoglein gene, highly homologous to both mouse and human Dsg1, designated desmoglein 1 gamma (Dsg1c). Dsg1 gamma shares 83% amino acid identity to the previously described mouse Dsg1, now designated as Dsg1 alpha, and 32% and 40% identity to mouse Dsg2 and 3, respectively. The Dsg1 gamma gene maps within the desmosomal gene cluster, between Dsc1 and Dsg1 alpha. Comparison of its exon-intron structure revealed a high level of evolutionary conservation with related family members. In contrast to Dsg1 alpha and Dsg3 whose expression is largely restricted to the skin, Dsg1 gamma is also expressed in the brain, skeletal muscle, and liver, among other tissues, and is thus more similar to Dsg2 in its tissue distribution. Interestingly, an orthologous Dsg1 gamma was not found in the human genome, suggesting that the desmosomal cadherin gene cluster contracted during mammalian evolution.

Amino Acid Motifs↗

Influence of IVIg therapy on autoantibody titers to desmoglein 1 in patients with pemphigus foliaceus.

Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by the presence of a pathogenic autoantibody to desmoglein 1, an epidermal cadherin molecule. Antibody titers to the desmoglein 1 protein can be used to monitor disease activity and severity in patients with PF. The purpose of this study is to report the influence of IVIg therapy on anti-desmoglein 1 antibody titers, in eight patients with severe PF, over a period of 18 consecutive months on each patient. This prospective study consisted of eight patients with severe widespread active PF at the time of entry into the study. The levels of autoantibody to desmoglein 1 were measured by an ELISA, at monthly intervals. Sera of all eight had high titers of the autoantibody to desmoglein 1, prior to initiating of IVIg therapy. A statistically significant reduction in the autoantibody titer index to desmoglein 1 was seen after 4 months of IVIg therapy. All eight patients were observed to have a progressive decline in autoantibody titer index while they were receiving IVIg. Patients on IVIg therapy had nondetectable titers after a mean period of 13 months and continued to remain in a serological remission for an additional observation period of 5 months. In the context of this study, autoantibody titers to desmoglein 1 can be used to monitor the serological response to treatment in patients with PF. Patients receiving IVIg therapy achieve serological remission.

Adult↗

Antibodies against desmoglein 1 in healthy subjects in endemic and nonendemic areas of pemphigus foliaceus (fogo selvagem) in Peru.

BACKGROUND: Endemic pemphigus foliaceus or fogo selvagem is an autoimmune skin disease characterized by the presence of subcorneal superficial blisters and antibodies of the immunoglobulin G4 (IgG4) class specific for the desmosomal glycoprotein, desmoglein 1. In Peru, no studies have been published on the seroprevalence of antibodies against desmoglein 1 in healthy subjects from endemic foci. SUBJECTS AND METHODS: This was a cross-sectional study. The sample included 82 healthy subjects, 41 from the Pueblo Libre community, a focus of endemic pemphigus foliaceus, and 41 from a nonendemic urban area in Pucallpa City. Enzyme-linked immunosorbent assay (ELISA) was used to determine the presence of antibodies against desmoglein 1. Samples were processed and tested at the Department of Dermatology and Cutaneous Surgery, School of Medicine, University of Miami, Miami, Florida. RESULTS: It was found that 31.7% of healthy individuals (13 subjects) from the endemic focus had anti-desmoglein 1 antibodies. A statistically significant association was found between the distance from the endemic focus and the presence of antibodies against desmoglein 1 in subjects living within the endemic focus [Mantel-Haenszel odds ratio (OR), 3.34; P = 0.03; 95% confidence interval (CI), 1.06-10.48]. Agriculture as an occupation showed a statistically significant association with the presence of antibodies against desmoglein 1 (Mantel-Haenszel OR, 7.84; P < 0.001; 95% CI, 2.47-24.87). CONCLUSIONS: Antibodies against desmoglein 1 are present in healthy subjects exposed to an endemic focus of pemphigus foliaceus (fogo selvagem). Agriculture is associated with a high risk of development of antibodies against desmoglein 1 in the endemic focus of the Pueblo Libre community.

Adolescent↗