Physical Mapping of a Functional Cluster of Epidermal Differentiation Genes on Chromosome 1q21

Volz, Armin; Korge, Bernhard; Compton, John G.; Ziegler, Andreas; Steinert, Peter M.; Mischke, Dietmar

doi:10.1006/geno.1993.1430

Cited by 132 publications

(86 citation statements)

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“…It is not fully understood how this additionally affects the epidermal barrier. The epidermal differentiation complex (EDC) is a cluster of genes located on chromosome 1q21 that encode a number of proteins important for barrier function [27]. LOR and IVL are two proteins encoded within the EDC, therefore these studies evaluated the relationship between their expression and the atopic inflammatory response.…”

Section: Discussionmentioning

confidence: 99%

Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6

Kim

Leung

Boguniewicz

et al. 2008

Clinical Immunology

452

206

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Atopic dermatitis (AD) is characterized by a defective skin barrier which allows increased allergen and pathogen penetration. Loricrin (LOR) and involucrin (IVL) are proteins important for skin barrier formation and integrity. In this study, we demonstrate that the gene and protein expression of LOR and IVL is significantly decreased in acute (LOR: p<0.001; IVL: p<0.001) and non-lesional (LOR: p<0.001; IVL: p<0.001) skin of AD subjects, as compared to skin from healthy subjects. Using primary keratinocytes, we further demonstrate the down-regulatory effect of IL-4 and IL-13 -which are over-expressed in the skin of AD patients -on LOR and IVL expression in keratinocytes. Additionally, skin biopsies from signal transducer and activator of transcription (STAT)-6 transgenic mice were deficient in the expression and production of LOR and IVL. This study suggests that Th2 cytokines inhibit expression of LOR and IVL through a STAT-6 dependent mechanism.

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Section: Discussionmentioning

confidence: 99%

Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6

Kim

Leung

Boguniewicz

et al. 2008

Clinical Immunology

452

206

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show abstract

“…Involucrin is ubiquitously expressed in stratified squa-mous epithelia, thus suggesting it is commonly involved in CE formation. The involucrin gene is located in a cluster with the genes for numerous other CE proteins in the so-called epidermal differentiation complex (EDC) region on chromosome 1q21 (Volz et al, 1993;Mischke et al, 1996). The involucrin gene has a single exon encoding the entire protein (Eckert and Green, 1986) and shows astonishing polymorphism in humans (Simon et al, 1991;Djian et al, 1995).…”

Section: The Tgasesmentioning

confidence: 99%

“…The S100 proteins are akin to the amino-terminal domain of profilaggrin in that they contain two calcium binding EF hand motifs (Engelkamp et al, 1993;Volz et al, 1993;Moog-Lutz et al, 1995;Mischke et al, 1996). Many of their genes are located in the EDC region of chromosome 1q21.…”

Section: Structural Protein Components Of Cesmentioning

confidence: 99%

Bricks and mortar of the epidermal barrier

Nemes

Steinert²

1999

Exp Mol Med

502

414

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“…The S100 family comprises 16 closely related members, 13 of which form a gene cluster in the epidermal differentiation complex of chromosome 1 in humans (3). S100 proteins consist of two Ca 2ϩ -binding EF-hands and short individual N and C termini.…”

mentioning

confidence: 99%

Ca2+-dependent Association of S100A6 (Calcyclin) with the Plasma Membrane and the Nuclear Envelope

Stradal

Gimona

1999

Journal of Biological Chemistry

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Expression of S100A6 (Calcyclin), a member of the S100 family and of Zn 2؉ -binding proteins is elevated in a number of malignant tumors. In vitro the protein associates with several actin-binding proteins and annexins in a Ca 2؉ -dependent manner. We have now studied the subcellular localization of S100A6 using a new, specific monoclonal antibody. Immunofluorescence microscopy of unfixed, ultrathin, frozen sections demonstrated a dual localization of S100A6 at the nuclear envelope and the plasma membrane of porcine smooth muscle only in the presence of Ca 2؉ . The same localization was found by immunofluorescence and immunogold electron microscopy as well as by confocal laser scanning microscopy with cultured, fixed, human CaKi-2 and porcine ST interphase cells. Upon cell division, however, S100A6 was found exclusively in the cytoplasm. Cell fractionation studies showed that S100A6 was present in the microsomal fraction in the presence of Ca 2؉ and was released from this fraction by the addition of EGTA/ EDTA but not by Triton X-100. The data demonstrate that S100A6 is localized both at the plasma membrane and the nuclear envelope in vivo and suggest a Ca 2؉ -dependent interaction with annexins or other components of the nuclear envelope.

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Physical Mapping of a Functional Cluster of Epidermal Differentiation Genes on Chromosome 1q21

Cited by 132 publications

References 0 publications

Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6

Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6

Bricks and mortar of the epidermal barrier

Ca2+-dependent Association of S100A6 (Calcyclin) with the Plasma Membrane and the Nuclear Envelope

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