A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA.
A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA.
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DOI：
10.1016/j.dnarep.2016.03.008
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发表时间：
2016-05
期刊：
影响因子：
3.8
通讯作者：
Schumacher B
中科院分区：
文献类型：
--
作者：
Babu V;Schumacher B
转录偶联修复途径(TC-NER)在清除转录阻断的DNA损伤，特别是紫外线诱导的损伤中起着至关重要的作用。Cockayne综合征(CS)和紫外线超敏综合征(UVSS)这两种TC-NER缺乏综合征的临床症状不同，导致这种疾病病理差异的潜在分子机制尚不清楚。紫外线刺激支架蛋白A(UVSSA)是近年来发现的一种新的UVSS致病基因。在这里，我们描述了人类UVSSA基因在线虫秀丽线虫UVS-1(UVSSA-like-1)中的功能同源。UVS-1的突变使动物对UV-B辐射和转录阻断损伤诱导的illudin-M过敏，类似于TC-NER缺陷突变体的突变。此外，我们还证明了包括UVS-1在内的TC-NER因子是成年动物在紫外线照射后存活所必需的。
The transcription-coupled repair pathway (TC-NER) plays a vital role in removing transcription-blocking DNA lesions, particularly UV-induced damage. Clinical symptoms of the two TC-NER-deficiency syndromes, Cockayne syndrome (CS) and UV-hypersensitivity syndrome (UVSS) are dissimilar and the underlying molecular mechanism causing this difference in disease pathology is not yet clearly understood. UV-stimulated scaffold protein A (UVSSA) has been identified recently as a new causal gene for UVSS. Here we describe a functional homolog of the human UVSSA gene in the nematode Caenorhabditis elegans, uvs-1 (UVSSA-like-1). Mutations in uvs-1 render the animals hypersensitive to UV-B irradiation and transcription-blocking lesion-inducing illudin-M, similar to mutations in TC-NER deficient mutants. Moreover, we demonstrate that TC-NER factors including UVS-1 are required for the survival of the adult animals after UV-treatment.