Psoriasis Risk Genes of the Late Cornified Envelope-3 Group Are Distinctly Expressed Compared with Genes of Other LCE Groups

Bergboer, Judith G.M.; Tjabringa, Geuranne S.; Kamsteeg, Marijke; Vlijmen-Willems, Ivonne M.J.J. van; Rodijk-Olthuis, Diana; Jansen, Patrick A.; Thuret, Jean‐Yves; Narita, Masashi; Ishida‐Yamamoto, Akemi; Zeeuwen, Patrick L.J.M.; Schalkwijk, Joost

doi:10.1016/j.ajpath.2010.12.017

Cited by 95 publications

(99 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These genes, in particular Lce, have been recently shown to be upregulated in response to skin barrier disruption (de Cid et al, 2009). Furthermore, Bergboer and collaborators showed that normal skin barrier function correlates with LCE groups 1, 2, 5 and 6, whereas expression of LCE3 genes is linked to barrier repair after injury or inflammation (Bergboer et al, 2011). These findings, in conjunction with the specific and prominent upregulation of expression of the Lce3 group in the Cyp26b1 -/-skin, suggest a mechanistic link between barrier disruption and inflammation in this mouse model that correlate with the systematic effects of increased RA levels.…”

Section: Discussionsupporting

confidence: 51%

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Okano¹,

Lichti²,

Mamiya³

et al. 2012

Journal of Cell Science

View full text Add to dashboard Cite

SummaryThe process by which the periderm transitions to stratified epidermis with the establishment of the skin barrier is unknown. Understanding the cellular and molecular processes involved is crucial for the treatment of human pathologies, where abnormal skin development and barrier dysfunction are associated with hypothermia and perinatal dehydration. For the first time, we demonstrate that retinoic acid (RA) levels are important for periderm desquamation, embryonic skin differentiation and barrier formation. Although excess exogenous RA has been known to have teratogenic effects, little is known about the consequences of elevated endogenous retinoids in skin during embryogenesis. Absence of cytochrome P450, family 26, subfamily b, polypeptide 1 (Cyp26b1), a retinoic-aciddegrading enzyme, results in aberrant epidermal differentiation and filaggrin expression, defective cornified envelopes and skin barrier formation, in conjunction with peridermal retention. We show that these alterations are RA dependent because administration of exogenous RA in vivo and to organotypic skin cultures phenocopy Cyp26b1 -/-skin abnormalities. Furthermore, utilizing the Flaky tail (Ft/Ft) mice, a mouse model for human ichthyosis, characterized by mutations in the filaggrin gene, we establish that proper differentiation and barrier formation is a prerequisite for periderm sloughing. These results are important in understanding pathologies associated with abnormal embryonic skin development and barrier dysfunction.

show abstract

Section: Discussionsupporting

confidence: 51%

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Okano¹,

Lichti²,

Mamiya³

et al. 2012

Journal of Cell Science

View full text Add to dashboard Cite

show abstract

“…They reported that the LCE1D gene could be detected in skin swabs for up to 21 storage days, and its expression decreased significantly in a time-dependent manner. In contrast to our findings, Bergboer et al (2011) reported that some LCE family genes were induced at the end of storage duration. They assumed that their methodology, storage media and irradiation could affect the expression levels of the LCE genes (Sampaio-Silva et al, 2013).…”

Section: Discussioncontrasting

confidence: 55%

“…However, our findings did not show any statistical significant difference. Similarly, Bergboer et al (2011) andSampaio-Silva et al (2013) found a high expression of LCE gene in skin samples when kept at room temperature (21°C ± 2). Another study by Lv et al (2014) found varied RNA expression and degradation behaviors and suggested that environmental factors could play a role in gene expression.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Human skin identification using specific gene marker at different storage temperatures

Ibrahim

2018

Egypt J Forensic Sci

View full text Add to dashboard Cite

Background: Late cornified envelope 1D (LCE1D), skin-specific mRNA, is used in forensic researche on human skin cell identification. Before using (LCE1D) in criminal casework, the impact of storage conditions on its expression should be measured and assessed. To detect the effects of storage temperature and duration, skin swabs were collected from six volunteers and stored at room temperature (25°C) and warmer temperature (40°C) for 5 days. Results: The (LCE1D) expressions, detected via Real Time PCR, were significantly diminished by increased storage duration. While there were also decreased (LCE1D) expressions among warmer temperature samples, this difference was not statistically significant. Conclusion: Our results suggest that forensic investigators should consider sample collection time prior to result interpretation.

show abstract

“…In humans, this was demonstrated for LCE6A (6). Furthermore, we showed that LCE2 proteins are localized along the CE in human skin (3). In addition, we demonstrated that LCE3 group members are distinctly expressed compared with the expression levels of other LCE genes in normal and psoriasis skin and in normal skin before and after minor skin injury (3).…”

Section: Introductionmentioning

confidence: 79%

Analysis of protein–protein interaction between late cornified envelope proteins and corneodesmosin

Bergboer

Dulak

Vlijmen-Willems

et al. 2014

Experimental Dermatology

Self Cite

View full text Add to dashboard Cite

Deletion of two members of the late cornified envelope (LCE) family, LCE3B and LCE3C (LCE3C_LCE3B-del), has been identified as risk factor for psoriasis with a possible role in skin barrier function. Moreover, genetic interaction between LCE3C_LCE3B-del and HLA-C*06, located in the psoriasis susceptibility regions 4 and 1 (PSORS4 and 1), has been reported in several populations. Because of high linkage disequilibrium between the PSORS1 genes HLA-C*06 and corneodesmosin (CDSN), both genes are potentially involved in psoriasis. As corneodesmosin and LCE proteins are both constituents of the stratum corneum, we investigated potential direct protein-protein interactions between six LCE proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin using immunofluorescence microscopy. Co-expression of eCFP-LCE and mRFP-CDSN proteins in COS-1 cells and human adult keratinocytes, and GST pull-down results did not provide evidence for direct interactions between LCE proteins and CDSN variants.Abbreviations: CDSN, corneodesmosin; CE, cornified envelope; eCFP, enhanced cyan fluorescent protein; hKC, human primary keratinocytes; LCE, late cornified envelope; LCE3C_LCE3B-del, deletion of LCE3B and LCE3C genes; LD, linkage disequilibrium; mRFP, monomeric red fluorescent protein.

show abstract

Psoriasis Risk Genes of the Late Cornified Envelope-3 Group Are Distinctly Expressed Compared with Genes of Other LCE Groups

Cited by 95 publications

References 28 publications

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Human skin identification using specific gene marker at different storage temperatures

Analysis of protein–protein interaction between late cornified envelope proteins and corneodesmosin

Contact Info

Product

Resources

About