Nucleotide excision repair (NER) is a highly conserved mechanism to remove helix-distorting DNA lesions. A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three human disorders caused by inherited defects in NER. The symptoms and severity of these diseases vary dramatically, ranging from profound developmental delay to cancer predisposition and accelerated ageing. All three syndromes include developmental abnormalities, indicating an important role for optimal transcription and for NER in protecting against spontaneous DNA damage during embryonic development. Here, we review the current knowledge on genes that function in NER that also affect embryonic development, in particular the development of a fully functional nervous system.

中文翻译：

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核苷酸切除修复基因可塑造胚胎发育。

核苷酸切除修复（NER）是去除螺旋扭曲的DNA损伤的高度保守的机制。NER的主要底物是环境遗传毒素（最明显的是紫外线）引起的DNA损伤。色素干皮病，Cockayne综合征和毛硫菌营养不良是由NER的遗传缺陷引起的三种人类疾病。这些疾病的症状和严重程度差异很大，从严重的发育延迟到癌症易感性和衰老加速不等。所有这三种综合症都包括发育异常，这表明在胚胎发育过程中最佳转录和NER在防止自发性DNA损伤中起着重要作用。在这里，我们回顾了有关在NER中起作用的基因的最新知识，这些基因也会影响胚胎发育，