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Gene expression data from the skin of Cdsniep-/-adult mice

ABSTRACT: Peeling Skin Disease (PSD; OMIM 270300) is an inflammatory ichthyosis due to homozygous loss-of-function mutations in Corneodesmosin (CDSN) and characterized by lifelong patchy peeling of the skin associated with eczema, food allergy and severe itching. The pathophysiology of PSD is still poorly known. The initial event of the disease, the detachment of the SC due to a CDSN deficiency, leads to an impairment of the permeability barrier which could in turn trigger erythema, pruritus and atopic manifestations by mechanisms not entirely elucidated. Cdsn-deficient mouse models are interesting tools to decipher these underlying mechanisms. In order to explore the still poorly known pathophysiological mechanisms of PSD, we analyzed the cutaneous transcriptome of two epidermis-specific Cdsn-deficient mouse models representative of early (occurrence of the permeability defect in Cdsnep-/- E18.5 embryos) and chronic (permanent permeability defect in Cdsniep-/- adult mice) phases of the disease We used affymetrix microarrays to explore genes expression in the skin of Cdsniep-/- adult mice which represent the chronic phase of the disease.

ORGANISM(S): Mus musculus

PROVIDER: GSE102261 | GEO | 2018/01/12

SECONDARY ACCESSION(S): PRJNA397148

REPOSITORIES: GEO

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Gene expression data from the skin of Cdsnep-/- E18.5 embryos

Project description:Peeling Skin Disease (PSD; OMIM 270300) is an inflammatory ichthyosis due to homozygous loss-of-function mutations in Corneodesmosin (CDSN) and characterized by lifelong patchy peeling of the skin associated with eczema, food allergy and severe itching. The pathophysiology of PSD is still poorly known. The initial event of the disease, the detachment of the SC due to a CDSN deficiency, leads to an impairment of the permeability barrier which could in turn trigger erythema, pruritus and atopic manifestations by mechanisms not entirely elucidated. Cdsn-deficient mouse models are interesting tools to decipher these underlying mechanisms. In order to explore the still poorly known pathophysiological mechanisms of PSD, we analyzed the cutaneous transcriptome of two epidermis-specific Cdsn-deficient mouse models representative of early (occurrence of the permeability defect in Cdsnep-/- E18.5 embryos) and chronic (permanent permeability defect in Cdsniep-/- adult mice) phases of the disease We used affymetrix microarrays to explore genes expression in the skin of Cdsnep-/- E18.5 embryos which represent the early phase of the disease.

2018-01-12 | GSE102262 | GEO

Expression data from adult mouse epidermis upon tamoxifen induced inactivation of Alox12b

Project description:Autosomal recessive congenital ichthyoses (ARCI) are a group of non-syndromic congenital keratinization disorders including harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma with a total prevalence of 1:200,000. Affected individuals who are often born as collodion babies present with generalized scaling of the skin. This reflects a physical compensation for the defective cutaneous permeability barrier underlying all ichthyoses. Inactivity of 12R-lipoxygenase (12R-LOX) is a frequent cause of ARCI. Epidermis-specific conditional knockout of Alox12b encoding 12R-LOX was established in mice using the Cre-Lox system. Tamoxifen-induced Alox12b inactivation in mouse skin caused an ichthyosis-like phenotype. We used microarray to compare the gene expression profile in the epidermis of mice after tamoxifen induced Alox12b inactivation with that of control animals. Inactivation of Alox12b was associated with the upregulation of genes involved in keratinization, cholesterol biosynthesis, and Fc-epsilon receptor signaling.

2019-03-01 | GSE127434 | GEO

Expression data from newborn Alox12b knockout mouse epidermis

Project description:Autosomal recessive congenital ichthyoses are a group of non-syndromic congenital keratinization disorders including harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma with a total prevalence of 1:200,000. Affected individuals who are often born as collodion babies present with generalized scaling of the skin. This reflects a physical compensation for the defective cutaneous permeability barrier underlying all ichthyoses. Inactivity of 12R-lipoxygenase (12R-LOX) is a frequent cause of ARCI. Mice with targeted inactivation of the 12R-LOX gene Alox12b were established .Heterozygous mutant mice (Alox12b+/−) were bred with 129S6, and their heterozygous offspring were intercrossed to obtain homozygous mutant mice. Homozygous Alox12b knockout mice died within 3 hours after birth owing to defective skin barrier function. We used microarray to compare the gene expression profile in the epidermis of Alox12b-null mice with that of wildtype animals. Inactivation of Alox12b was associated with the upregulation of genes involved in keratinization, cholesterol biosynthesis, and Fc-epsilon receptor signaling.

2019-03-01 | GSE127435 | GEO

Ichthyosis associated with sphingosine 1-phosphate lyase insufficiency syndrome is due to aberrant calcium and sphingolipid regulation

Project description:Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% presented with abnormalities such as ichthyosis, acanthosis, and hyperpigmentation. To elucidate the disease mechanism and the role SGPL1 plays in the skin barrier we established CRISPR-Cas9 SGPL1 knock-out and a lentiviral induced SGPL1 overexpression in nTERT immortalised keratinocytes and thereafter organotypic skin equivalents. Loss of SGPL1 caused an accumulation of S1P, sphingosine and ceramide while its overexpression caused a reduction of these species. RNAseq analysis showed perturbations in sphingolipid pathway genes, particularly in SGPL1_KO and GSEA revealed polar opposite differential gene expression between SGPL1_KO and _OE in keratinocyte differentiation and Ca2+ signalling genesets. SGPL1_KO upregulated differentiation markers while SGPL1_OE upregulated basal and proliferative markers. The advanced differentiation of SGPL1_KO was confirmed by 3D organotypic models that also presented with a thickened and retained stratum corneum, sphingolipid accumulation in the spinous layer and a breakdown of E-cadherin junctions. We hypothesise that SPLIS associated ichthyosis is a multi-faceted disease caused by sphingolipid imbalance and excessive S1P signalling.

2023-03-06 | GSE207499 | GEO

Human gene 1.0 ST AD/IV Gene expression

Project description:Comparison of gene expression in atopic dermatitis (AD) and ichthyosis vulgaris (IV) patients skin compared to healthy control skin depending on filaggrin(FLG) genotype

2011-10-01 | E-MTAB-768 | biostudies-arrayexpress

Expression data from skin of controls and patient with Curth–Macklin

Project description:Ichthyosis Curth–Macklin is a rare genetic disorder that is clinically characterized by severe palmoplantar keratoderma. We have described previously a severe familial phenotype caused by a novel mutation in the KRT1 gene. In this study, we analyzed the skin of one patient using gene expression microarrays. We used microarrays to study the differences of gene expression between normal skin and skin affected by Ichthyosis Curth-Macklin

2015-09-29 | GSE73512 | GEO

Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature

Project description:The purpose of this study was to analyze the genomic signatures and profiles of skin from ichthyosis (various subtypes) vs. healthy patients. The analysis strategy was to study differentially expressed genes common to the ichthyosis shared phenotype, as well as individual ichthyosis subtypes, and compare and contrast to the genomic profiles of atopic dermatitis and psoriasis.

2018-10-10 | GSE108640 | GEO

The Amino-Terminal Part of Human Filaggrin-2 is a Component of Cornified Envelopes

Project description:Filaggrin-2 (FLG2), a member of the S100-fused type protein family, is a 250 kDa protein mainly expressed in differentiated keratinocytes of the epidermis (Wu et al., 2009; Hsu et al., 2011). Its expression is reduced in atopic dermatitis (Pellerin et al., 2013), and heterozygous non-sense mutations of its gene are associated with a more persistent form of the disease in Afro-American populations (Margolis et al., 2014). Homozygous mutations of its gene are responsible for a rare skin disease called peeling skin syndrome type A (Bolling et al., 2018; Mohamad et al., 2018). However, the exact role of FLG2, a multi-domain protein, is not well known. Its COOH-tail exhibits anti-microbial activity (Hansmann et al., 2015), whereas its B domain is suspected to be involved in the hydration of the upper part of the epidermis, the cornified layer. Here, on the basis of immunological, global proteomics and in vitro enzymatic analysis we demonstrated that its amino-terminal domain is cross-linked to the cornified envelope, a pericellular resistant structure that replaces the plasma membrane during the last step of keratinocyte differentiation. In addition, depletion of FLG2 in reconstructed 3D human epidermis induced a marked fragility of cornified envelopes. These data suggest that FLG2 is important for proper mechanical strength of the cornified layer. They may explain the epidermal fragility observed in peeling skin syndrome type A patients.

2019-02-25 | PXD011833 | Pride

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

Project description:Mutations in PNPLA1 (patatin-like phospholipase domain containing 1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed in highly differentiated keratinocytes, plays a crucial role in the biosynthesis of acylceramide, a lipid component essential for skin barrier function. Pnpla1-deficient mice showed neonatal lethality due to epidermal permeability barrier defects with severe transepidermal water loss, decreased intercellular lipid lamellae in the stratum corneum, and impaired terminal differentiation of keratinocytes. In Pnpla1–/– epidermis, three unique linoleate-containing lipids, including acylceramides, acylglucosylceramides and (O-acyl)-ω-hydroxy fatty acids, were almost absent with reciprocal increases in their precursors ω-hydroxy (glucosyl)ceramides and ω-hydroxy fatty acids, indicating that PNPLA1 catalyzes the ω-O-esterification step with linoleic acid to form acylceramides. Our results suggest that PNPLA1 represents the missing piece in the process of acylceramide biosynthesis required for establishment of a permeability barrier.

2016-12-23 | GSE87682 | GEO

Epidermal barrier impairment predisposes for excessive growth of the allergy-associated yeast Malassezia on murine skin

Project description:The skin barrier is vital for protection against environmental threats including insults caused by skin-resident microbes. Dysregulation of this barrier is a hallmark of atopic dermatitis (AD) and ichthyosis, with variable consequences for host immune control of colonizing commensals and opportunistic pathogens. While Malassezia is the most abundant commensal fungus of the skin, little is known about the host control of this fungus in inflammatory skin diseases. Here we show that in barrier-impaired skin, Malassezia acquires enhanced fitness and overt growth properties. By using four distinct and complementary murine models of atopic dermatitis and ichthyosis we provide evidence that structural and metabolic changes in the dysfunctional epidermal barrier environment provide increased accessibility and an altered lipid profile, to which the lipid-dependent yeast adapts for enhanced nutrient assimilation. These findings reveal fundamental insights into the implication of the mycobiota in the pathogenesis of common skin barrier disorders.

2024-02-20 | GSE253214 | GEO

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