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首页> 外文期刊>Journal of dermatological science >Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).
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Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).

机译：排除CTSB和FDFT1作为冬季角化性红斑（KWE）的位置和功能候选基因。

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BACKGROUND: Keratolytic winter erythema (KWE) or Oudtshoorn skin disease is a rare autosomal dominant monogenic disorder of epidermal keratinisation characterized clinically by cyclical peeling of the palms and soles. Due to a founder effect many KWE families have been identified in South Africa and the gene has been localized to 8p23.1-22, but the causal gene has yet to be identified. OBJECTIVE: To examine two compelling positional and functional candidate genes within the critical region on 8p: cathepsin B (CTSB), a lysosomal cysteine protease localized to pericellular spaces between keratinocytes, possibly playing a role in cell-cell adhesion; and farnesyl-diphosphate farnesyltransferase (FDFT1), a membrane-associated enzyme in cholesterol biosynthesis which, among its many functions, plays a role in barrier permeability and integrity. METHOD: Mutation screening of the coding regions, 5'UTRs and intron/exon boundaries of CTSB and FDFT1 in genomic DNA and cDNA of patients affected with KWE. Relative gene expression profiles of CTSB and FDFT1 in palmoplantar skin biopsies were assessed by real-time RT-PCR. RESULTS: No DNA variants that segregate exclusively with KWE were identified. There was no significant difference in the CTSB expression profiles but a trend towards increased expression of FDFT1 was observed in the skin of affected individuals (p=0.063). This observation prompted analysis of the FDFT1 promoter region; however, no genetic variants segregating with the KWE phenotype were observed and it is likely that the increased expression was triggered in response to skin inflammation and peeling. CONCLUSION: CTSB and FDFT1 are excluded as candidates for KWE.
机译：背景：角质层性红斑（KWE）或Oudtshoorn皮肤病是一种罕见的常染色体显性单基因表皮角化病，临床特征是手掌和脚掌周期性脱皮。由于创始效应，在南非已经鉴定了许多KWE家族，并且该基因已经定位于8p23.1-22，但是致病基因尚未被鉴定。目的：研究8p关键区域内两个引人注目的位置和功能候选基因：组织蛋白酶B（CTSB），一种溶酶体半胱氨酸蛋白酶，位于角质形成细胞之间的细胞间隙，可能在细胞粘附中起作用;法呢基二磷酸法呢基转移酶（FDFT1）是胆固醇生物合成中的一种膜相关酶，其许多功能在屏障渗透性和完整性方面发挥着作用。方法：对KWE患者基因组DNA和cDNA的编码区，5'UTR和CTSB和FDFT1的内含子/外显子边界进行突变筛选。通过实时RT-PCR评估掌plant皮肤活检中CTSB和FDFT1的相对基因表达谱。结果：未发现仅与KWE分离的DNA变体。在CTSB表达谱中没有显着差异，但是在受影响的个体的皮肤中观察到了FDFT1表达增加的趋势（p = 0.063）。该观察结果提示了对FDFT1启动子区域的分析。然而，没有观察到与KWE表型分离的遗传变异，并且很可能是由于皮肤发炎和脱皮而触发了表达的增加。结论：CTSB和FDFT1被排除为KWE的候选者。

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