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Fig 1.

Loss of Klk5 expression reverses skin and whisker anomalies in Spink5-/- mice.

(A) Macroscopic appearance of wt, Spink5-/-, Klk5-/-, Spink5-/-Klk5-/- mice. Photos were taken 30 h after birth for wt, Klk5-/- and Spink5-/-Klk5-/- mice and 5 h for Spink5-/- mice; (B) Microscopic appearance of muzzle area (scale bar 1mm) and (C) whisker ultrastructure by scanning electron microscopy (SEM). Scale bar, 10μm.

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Fig 2.

Skin barrier function is restored by Klk5 knockout.

(A) Hematoxylin/eosin/safranin (HES) stained skin sections show no stratum corneum detachment and normal thickness of the living layer in the epidermis of Spink5-/-Klk5-/- (taken post-natally at 30 h) as opposed to Spink5-/- (at 5 h) characterized by extensive stratum corneum/stratum granulosum separation and acanthosis; Scale bar: 50μm (B) Skin barrier defect is remarkably improved in Spink5-/-Klk5-/- as demonstrated by the toluidine blue dye penetration assay. The dye is excluded from entering the body of the Spink5-/-Klk5-/- mouse in sharp contrast to the deep blue stain of Spink5-/-; (C) Transepidermal water loss (TEWL) assay. TEWL values are significantly lower in Spink5-/-Klk5-/- as compared to Spink5-/- and similar to wt animals, reflecting normalization of the skin barrier defect on the Lekti-deficient background solely by Klk5 deletion. *p<0.05 (Mann-Whitney U test); (D) TEWL values over time in wt (n = 9), Spink5-/- (n = 9), Klk5-/- (n = 10) and combined Spink5-/-Klk5-/- deficient (n = 8) newborn mice at 37°C. Data are shown as mean ± s.e.m. (standard error of the mean). Stars on the graph represent statistics between Spink5-/- and Spink5-/-Klk5-/- at the different time points **p<0.01 (Mann-Whitney U test). Note that values for Spink5-/-Klk5-/- and Klk5-/- are not significantly different from wt whereas Spink5-/- values are significantly different from wt for all time points.

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Fig 3.

Klk5 is a key regulator of epidermal proteolysis.

In situ zymography using fluorescence-quenched casein (A) or elastin (B). Skin tissue sections were prepared from wt, Spink5-/-, Klk5-/-, and Spink5-/-Klk5-/- mice. Ablation of Klk5 expression highly reduced both caseinolytic and elastinolytic activities in the stratum corneum of Spink5-/-Klk5-/- as compared to Spink5-/-, respectively. Fluorescence intensity data was transformed into a color gradient (as shown) using ImageJ software. Dashed white lines represent the dermal-epidermal junction; The asterisk (*) indicates the epidermis, scale bar: 25μm (C) Changes in proteolytic activity using colorimetric substrates that target different proteases. Activity in wt, Spink5-/- and Spink5-/-Klk5-/- was detected by measuring absorbance at 405 nm after overnight incubation with substrates for either KLK7 or KLK14. Data are shown as the mean ± SEM of duplicates for four mice per genotype; (D) Analysis of mRNA expression in skin by RT-qPCR of Klk7 and Klk14. Results show high expression of both Klks in Spink5-/-. In Spink5-/-Klk5-/- skin, expression of Klk14 is equal to wt while Klk7 remained slightly higher. Data are shown as the mean ± s.e.m. of triplicate amplification for at least three mice per genotype. Results are normalized to wt mean (set as 1.0).

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Fig 4.

The ultrastructural architecture of Spink5-/- epidermis is normalized by Klk5 knockout.

(A) Immunostaining on skin section shows restored Dsg1 in Spink5-/-Klk5-/- compared to Spink5-/- consistent with diminished pathological proteolysis observed in Fig 3, scale bar: 25μm (B) Immunostaining on skin section shows partial restoration of Dsc1 in Spink5-/-Klk5-/- compared to Spink5-/-, scale bar: 25μm. (C) Transmission electron micrographs of skin ultrasections from: wt (C1-2), Spink5-/- (D1-3), Klk5-/- (E1-3), and Spink5-/-Klk5-/- (F1-3) mice. Nuclei (depicted with star in D2) present in the stratum corneum of Spink5-/- denote incomplete differentiation (parakeratosis). Separation of desmosomes in Spink5-/- is evident, as indicated by arrows (D3). Of note, also the well-organized compact desmosomes in Klk5-/- and Spink5-/-Klk5-/- skin sections (E2-3, F3).

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Fig 5.

Spink5-/-Klk5-/- skin does not show evidence of abnormal epidermal differentiation.

(A, B) IHF analyses show normalized Involucrin and Loricrin expression in Spink5-/-Klk5-/- skin compared to Spink5-/- as indicated by arrows; scale bar: 25μm (C) Deletion of Klk5 blocks Flg degradation. Immunostaining of Flg extends to the granular layer and the stratum corneum in wt, Klk5-/-, Spink5-/-Klk5-/- while it is drastically reduced in the granular layer and restricted to the detached stratum corneum in Spink5-/- mice as indicated by arrows; scale bar: 25μm.

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Fig 6.

Klk5 deletion results in remarkable suppression of the inflammatory phenotype of NS.

(A-E). Results show remarkable abrogation of pro-allergic and pro-inflammatory cytokines quantified by RT-qPCR. (A) Il-1β, Tslp, Tnf-α; (B) Il-6, Il-18, the type 17 promoting cytokine Il-23p19; (C) Ifn-γ, Il-4, Il-17A, Il-22; (D) Th17 regulated genes Defb4, Slpi, Cxcl1 and Ccl20; (E) Th17/22 regulated genes s100a7, s100a8, s100a9. Data are shown as the mean ± s.e.m. of triplicate amplification for at least five mice per genotype. Results are normalized to wt mean (set as 1.0). *p<0.05, **p<0.005, ***p<0.001 (Mann-Whitney U test). (F) Quantification of mast cells based on toluidine blue staining of skin tissue (mast cells stain purple). An increased number of mast cells was detected in Spink5-/- dermis; (G) IHC analysis shows abolishment of Tslp expression in Spink5-/-Klk5-/- skin as compared to Spink5-/-; Scale bar: 50μm.

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Fig 6 Expand