Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Using targeted resequencing of the KWE critical region in five South African families and SNP array and whole-genome sequencing in two Norwegian families, we identified two overlapping tandem duplications of 7.67 kb (South Africans) and 15.93 kb (Norwegians). The duplications segregated with the disease and were located upstream of CTSB, a gene encoding cathepsin B, a cysteine protease involved in keratinocyte homeostasis. Included in the 2.62 kb overlapping region of these duplications is an enhancer element that is active in epidermal keratinocytes. The activity of this enhancer correlated with CTSB expression in normal differentiating keratinocytes and other cell lines, but not with FDFT1 or NEIL2 expression. Gene expression (qPCR) analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control individuals. Analysis of higher-order chromatin structure data and RNA polymerase II ChIA-PET data from MCF-7 cells did not suggest remote effects of the enhancer. In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals.

Removal of Sulfide Ions from Kraft Washing Effluents by Photocatalysis with N and Fe Codoped Carbon Dots.

N and Fe codoped carbon dots (N,Fe-CDs) were fabricated from citric acid, L-glutamic acid and ferric chloride via a hydrothermal method for the photocatalytic removal of S2- from kraft washing effluents (KWE). The N,Fe-CDs were fluorescent nanoparticles (average size of 3.18 nm) and catalyzed the oxidation of S2- following a first-order kinetic model with an activation energy of 33.77 kJ/mol. The N,Fe-CDs tolerated elevated temperatures as high as 80 °C without catalyst deactivation. The N,Fe-CDs catalysts were reusable for at least four cycles, preserving over 90% of the activity. In the treatment of KWE from the kraft pulping of eucalyptus, the concentration of S2- was decreased by the N,Fe-CDs from 1.19 to 0.41 mmol/L in 6 h. Consequently, near complete remediation was obtained in 24 h. In addition, half of the chemical oxygen demand was removed after treatment with 500 mg/L of the N,Fe-CDs. In addition, the present photocatalyst was safe within a concentration of 200 mg/L, as indicated by the acetylcholinesterase inhibition test. Our findings may help develop a cleaner production process for kraft brownstock washing.