A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
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XPC DNA 修复基因中的一种新型复杂插入/缺失突变导致伊拉克一个家庭患皮肤癌。
DOI：
10.1038/sj.jid.5700452
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
Kraemer,KennethH
中科院分区：
文献类型：
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作者：
Emmert,Steffen;Wetzig,Tino;Imoto,Kyoko;Khan,SikandarG;Oh,Kyu-Seon;Laspe,Petra;Zachmann,Karolin;Simon,JanC;Kraemer,KennethH
三种罕见的常染色体隐性遗传性疾病与缺陷性核苷酸切除修复相关：着色性干皮病（XP）、Cockayne综合征和甲状腺营养不良（Bootsma等人，2002年）。XP患者对阳光敏感，容易患皮肤癌。他们患皮肤癌的风险是正常人群的1,000倍。Cockayne综合征和甲状腺营养不良患者不容易患皮肤癌（货车Steeg和Kraemer，1999）。3号染色体上的着色性干皮病C组（XPC）基因编码940个氨基酸的蛋白质，其是与HHR 23 B和中心蛋白2的异源三聚体复合物的一部分，并且在整体基因组修复期间而不是转录偶联修复期间充当核苷酸切除修复的损伤传感器和引发剂（Khan et al.，2006年）。
Three rare autosomal-recessive inherited diseases are associated with defective nucleotide excision repair: xeroderma pigmentosum (XP), Cockayne syndrome, and trichothiodystrophy (Bootsma et al., 2002). XP patients are sun-sensitive and skin cancer prone. Their skin cancer risk is approximately 1,000 times higher compared to the normal population. Cockayne syndrome and trichothiodystrophy patients are not skin cancer prone (van Steeg and Kraemer, 1999). The xeroderma pigmentosum group C (XPC) gene on chromosome 3 encodes a 940-amino-acid protein that is part of a heterotrimeric complex with HHR23B and centrin 2 and acts as damage sensor and initiator of the nucleotide excision repair during global genomic repair but not transcription-coupled repair (Khan et al., 2006).