Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France.
Inserm U1035, Bordeaux, France; Université de Bordeaux, Bordeaux, France; Centre de Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France; Département de Dermatologie & Dermatologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.
J Invest Dermatol. 2015 Feb;135(2):341-351. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9.
Nucleotide excision repair (NER) is an important DNA repair pathway involved in the removal of a wide array of DNA lesions. The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes including XP/CS, XP/TTD, CS/TTD, and COFS/TTD. In addition to their well-characterized role in the NER signaling pathway, NER factors also seem to be important in biological processes that are not directly associated with DNA damage responses, including mitochondrial function and redox homeostasis. The potential causative role of these factors in the large clinical spectrum seen in NER diseases is discussed in this review.
核苷酸切除修复 (NER) 是一种重要的 DNA 修复途径，参与多种 DNA 损伤的清除。NER 的缺失或功能障碍导致以下几种不同的疾病：着色性干皮病 (XP)、Cockayne 综合征 (CS)、脑-眼-面-骨骼综合征 (COFS)、紫外线敏感综合征 (UVSS)、毛发硫营养不良症 (TTD)，或联合综合征包括 XP/CS、XP/TTD、CS/TTD 和 COFS/TTD。除了在 NER 信号通路中具有明确的作用外，NER 因子似乎在与 DNA 损伤反应没有直接关联的生物学过程中也很重要，包括线粒体功能和氧化还原稳态。本文讨论了这些因子在 NER 疾病中所见的广泛临床谱中的潜在致病作用。
