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Cockayne综合征B基因(CSB)研究进展 被引量：2

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摘要 Cockayne综合征(Cockayne syndrome,CS)是一种罕见的人类常染色体隐性遗传疾病,临床 表现为患者对紫外线异常敏感,并伴有神经、生理发育异常。该病可分为两个亚群:CSA与CSB。生化功 能分析表明CSA与CSB在核酸切除修复(NER)中的转录偶联修复(TCR)通路发挥功能。近年来的研究表 明,CSB参与了大量的细胞活动,如DNA修复,转录调控,维持染色体稳定性及染色质重构。在此就有 关CSB的研究进行综述。
作者 刘峰 周平坤
机构地区 军事医学科学院放射医学研究所
出处 《国外医学（遗传学分册）》 2005年第1期37-40,20,共5页 Foreign Medical Sciences(Section of Genetics )
关键词 Cockayne综合征 常染色体隐性遗传疾病 B基因 syndrome 转录偶联修复 染色体稳定性 DNA修复 CSB 临床表现 发育异常 切除修复 功能分析 细胞活动 转录调控 CSA 紫外线 染色质
分类号 R596.1 [医药卫生—内科学]
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参考文献17

  • 1de Boer J, Hoeijmakers HJ. Nucleotide excision repair and human syndromes. Carcinogenesis, 2000, 21: 453-460.
  • 2Lu Y, Mani S,Kandimalla ER,et al. The Cockayne Syndrome Group B DNA repair protein as an anti-cancer target. Iht J Oncol,2001,19(6): 1089-1097.
  • 3van Gool AJ, Citterio E, Rademakers S,et al. The Cockayne Syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase Ⅱ-containing complex. EMBO J,1997,16(19): 5955-5965.
  • 4Colella S, Nardo T, Mallery D,et al. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne Syndrome (CS) but without clinical photosensitivity. Hum Mo Gene,1999,8(5) :935-941.
  • 5Ellaway CJ,Duggins A, Fung VS,et al. Cockayne Syndrome associated with low CSF 5-hydroxyindole acetic acid levels. J Med Genet, 2000, 37: 553-557.
  • 6Guzder SN, Habraken Y, Sung P,et al. RAD26, the yeast homolog of human Cockayne's syndrome Group B Gene, encodes a DNA-dependent ATPase. JBC, 1996,271:18314-18317.
  • 7Tantin D. RNA Polymerase Ⅱ elongation complexes containing the Cockayne Syndrome Group B protein interact with a molecular complex containing the transcription factor ⅡH components Xeroderma Pigmentosum B and p62. J Biol Chem, 1998, 273:27794-27799.
  • 8Tuo J, Muftuoglu M, Chen C,et al. The Cockayne Syndrome Group B gene product is involved in general genome base excision repair of 8-Hydroxyguanine in DNA. J Biol Chem, 2001,276: 45772-45779.
  • 9Wood RD. Nucleotide excision repair in mammalian cells, J Biol Chem, 1997, 272:23465-23468.
  • 10Brosh RM Jr, Balajee AS, Selzer RR, et al. The ATPase domain but not the acidic region of Cockayne Syndrome Group B gene product is essential for DNA repair. Mol Biol Cell, 1999,10:3583-3594.

同被引文献17

  • 1胡亚美.早老症[M]//胡亚美,江载芳.诸福棠实用儿科学. 第7版. 北京: 人民卫生出版社,2002: 2497-2498.
  • 2Morris DP, Alian W, Maessen H, Creaser C, Demmons-O'Brien S, Van Wijhe R, et al. Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes[J]. Laryngoscope, 2007,117(5): 939-943.
  • 3Mohammed FR, Chowdhury FR, Nur Z, Shams MZ, Alam MB, Ahasan H. A case of 25 year old dwarf with classic Cockayne syndrome[J]. J Med, 2010, 11(2): 186-188.
  • 4Nance MA, Berry SA. Cockayne syndrome: review of 140 cases[J]. Am J Med Genet, 1992, 42(1): 68-84.
  • 5李瑞 刘晓鸣.孪生兄弟同患Cockayne综合征.实用儿科临床杂志,1995,.
  • 6Stevnsner T, Muftuoglu M, Aamann MD, Bohr VA. The role of Cockayne syndrome group B (CSB) protein in base excision repair and aging[J]. Mech Ageing Dev, 2008, 129(7-8):441-448.
  • 7Weidenheim KM, Dickson DW, Rapin I.Neuropathology of Cockayne syndrome: evidence for impaired development, premature aging, and neurodegeneration[J]. Mech Ageing Dev, 2009, 130(9):619-636.
  • 8Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, et al. Neuroimaging in Cockayne syndrome[J]. AJNR Am J Neuroradiol, 2010, 31(9):1623-1630.
  • 9Kamenisch Y, Berneburg M. Progeroid syndromes and UV-induced oxidative DNA damage[J]. J Investig Dermatol Symp Proc, 2009, 14(1): 8-14.
  • 10Mohammed FR,Chowdhury FR, Nur Z, et al old dwarf with classic Cockayne syndrome[J] (2) : 186-188.

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国外医学（遗传学分册）
2005年 第1期

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