科凯恩综合征和着色性干皮病/科凯恩综合征细胞提取物中RNA聚合酶II转录减少。
Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
作者信息
Dianov G L, Houle J F, Iyer N, Bohr V A, Friedberg E C
机构信息
Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
出版信息
Nucleic Acids Res. 1997 Sep 15;25(18):3636-42. doi: 10.1093/nar/25.18.3636.
Abstract
The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome characterized by arrested post-natal growth as well as neurological and other defects. The CSA and CSB genes are implicated in this disease. The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB and XPD proteins are subunits of RNA polymerase II (RNAP II) transcription factor IIH (TFIIH). We show here that extracts of CS-A and CS-B cells, as well as those from XP-B/CS cells, support reduced levels of RNAP II transcription in vitro and that this feature is dependent on the state or quality of the template.
摘要
遗传性疾病科凯恩综合征（CS）是一种复杂的临床综合征，其特征为出生后生长停滞以及神经和其他缺陷。CSA和CSB基因与该疾病有关。CS的临床特征也可能伴随来自遗传互补组B、D或G的切除修复缺陷型遗传性疾病着色性干皮病（XP）出现。XPB和XPD蛋白是RNA聚合酶II（RNAP II）转录因子IIH（TFIIH）的亚基。我们在此表明，CS - A和CS - B细胞的提取物，以及来自XP - B/CS细胞的提取物，在体外支持的RNAP II转录水平降低，并且这一特征取决于模板的状态或质量。
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本文引用的文献
1
Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells.完整的和透化的科凯恩综合征B组细胞中RNA聚合酶II转录减少。
Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4306-11. doi: 10.1073/pnas.94.9.4306.
2
Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.XP组G型科凯恩综合征患者中氧化性碱基损伤的转录偶联修复缺陷。
Science. 1997 Feb 14;275(5302):990-3. doi: 10.1126/science.275.5302.990.
3
RNA polymerase II stalled at a thymine dimer: footprint and effect on excision repair.RNA聚合酶II停滞于胸腺嘧啶二聚体处：足迹及对切除修复的影响
Nucleic Acids Res. 1997 Feb 15;25(4):787-93. doi: 10.1093/nar/25.4.787.
4
Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II.人类转录修复偶联因子CSB/ERCC6是一种DNA刺激的ATP酶，但不是解旋酶，也不会破坏停滞的RNA聚合酶II的三元转录复合物。
J Biol Chem. 1997 Jan 17;272(3):1885-90. doi: 10.1074/jbc.272.3.1885.
5
Cockayne syndrome--a primary defect in DNA repair, transcription, both or neither?科凯恩综合征——DNA修复、转录的原发性缺陷，还是两者皆有缺陷或两者均无缺陷？
Bioessays. 1996 Sep;18(9):731-8. doi: 10.1002/bies.950180908.
6
The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes.科凯恩综合征细胞对DNA损伤剂的敏感性并非源于活性基因转录偶联修复缺陷。
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7
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.B组着色性干皮病的修复/转录因子TFIIH中3'→5' XPB解旋酶缺陷影响DNA修复和转录。
J Biol Chem. 1996 Jul 5;271(27):15898-904. doi: 10.1074/jbc.271.27.15898.
8
DNA repair deficiencies associated with mutations in genes encoding subunits of transcription initiation factor TFIIH in yeast.酵母中与编码转录起始因子TFIIH亚基的基因突变相关的DNA修复缺陷。
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9
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10
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