An unusual mutation in the XPG gene leads to an internal in‐frame deletion and a XP/CS complex phenotype
An unusual mutation in the XPG gene leads to an internal in‐frame deletion and a XP/CS complex phenotype
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DOI：
10.1111/bjd.13035
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发表时间：
2014-10
影响因子：
10.3
通讯作者：
J. Lehmann;S. Schubert;A. Schäfer;Antje Apel;P. Laspe;S. Schiller;A. Ohlenbusch;Alexei Gratchev;Steffen Emmert
中科院分区：
文献类型：
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作者：
J. Lehmann;S. Schubert;A. Schäfer;Antje Apel;P. Laspe;S. Schiller;A. Ohlenbusch;Alexei Gratchev;Steffen Emmert
亲爱的编辑，核苷酸切除修复（NER）途径修复紫外线（UV）诱导的光产物。根据各自的突变基因（XPA-XPG）和翻译合成缺陷的变异形式（Pol H），鉴定出7个色素干皮病（XP）的互补基团（XP- a至XP- g）。属于XP互补组B、D、F和G的患者可表现出XP症状，包括光敏性、雀斑和皮肤癌风险的高增加，并伴有柯卡因综合征（CS）症状，包括光敏性、神经异常和发育不良，但不占优势皮肤癌（XP/CS复合表型）。这表明了各自蛋白在DNA修复和基础转录中的作用。人类XPG/ERCC5基因（OMIM: 278780）编码一个1186个氨基酸的蛋白，位于染色体13q32 3-q33 1上。在NER过程中，XPG对含损伤链进行30切口，并通过两种相互作用稳定基础转录因子IIH （TFIIH）
DEAR EDITOR, The nucleotide excision repair (NER) pathway repairs ultraviolet (UV)-induced photoproducts. According to the respective mutated genes (XPA–XPG) and a variant form with a defect in translesion synthesis (Pol H), seven xeroderma pigmentosum (XP) complementation groups (XP-A to XP-G) have been identified. Patients belonging to XP complementation groups B, D, F and G can exhibit XP symptoms, including photosensitivity, freckling and a high increase in the risk of skin cancer, combined with Cockayne syndrome (CS) symptoms, which include photosensitivity, neurological abnormalities and failure to thrive, but no preponderance for skin cancer (XP/CS complex phenotype). This indicates a role of the respective proteins in DNA repair, as well as in basal transcription. The human XPG/ERCC5 gene (OMIM: 278780) encodes an 1186-amino acid protein and is located on chromosome 13q32 3-q33 1. During NER, XPG performs the 30 incision of the damage-containing strand and stabilizes the basal transcription factor IIH (TFIIH) by two interaction