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学科主题: 临床医学
题名:
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
作者: Allen, SJ1; Wilkinson, CJ1; Nigg, EA1; Shou, CC1; Lillo, C1; Williams, DS1; Hoppe, B1; Kemper, MJ1; Neuhaus, T1; Parisi, MA1; Glass, IA1; Petry, M1; Kispert, A1; Gloy, J1; Ganner, A1; Walz, G1; Zhu, XL1; Goldman, D1; Nurnberg, P1; Swaroop, A1; Leroux, MR1; Hildebrandt, F1; Sayer, JA1; Otto, EA1; O&prime1; Toole, JF1; Nurnberg, G1; Kennedy, MA1; Becker, C1; Hennies, HC1; Helou, J1; Attanasio, M1; Fausett, BV1; Utsch, B1; Khanna, H1; Liu, Y1; Drummond, I1; Kawakami, I1; Kusakabe, T1; Tsuda, M1; Ma, L1; Lee, H1; Larson, RG1
刊名: NATURE GENETICS
发表日期: 2006-06-01
DOI: 10.1038/ng1786
卷: 38, 期:6, 页:674-681
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: PRIMARY CILIA ; RETINITIS-PIGMENTOSA ; DOMAIN PROTEIN ; NEPHRONOPHTHISIS ; GENE ; INVERSIN ; MUTATIONS ; INTERACTS ; ENCODES ; DISEASE
英文摘要:

The molecular basis of nephronophthisis(1), the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome(2) are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis. It encodes a protein with several domains also present in CENPF, a protein involved in chromosome segregation. CEP290 ( also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation. NPHP6 is found at centrosomes and in the nucleus of renal epithelial cells in a cell cycle-dependent manner and in connecting cilia of photoreceptors. Abrogation of its function in zebrafish recapitulates the renal, retinal and cerebellar phenotypes of Joubert syndrome. Our findings help establish the link between centrosome function, tissue architecture and transcriptional control in the pathogenesis of cystic kidney disease, retinal degeneration, and central nervous system development.

语种: 英语
WOS记录号: WOS:000237954800022
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50377
Appears in Collections:北京大学临床肿瘤学院_期刊论文

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作者单位: 1.Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, Shanghai 200031, Peoples R China
2.Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA
3.Univ Newcastle Upon Tyne, Sch Clin Med Sci, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
4.Univ Cologne, Cologne Ctr Genom, D-5000 Cologne, Germany
5.RZPD Deutsch Ressourcectr Genomforsch, Berlin, Germany
6.Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada
7.Univ Michigan, Inst Biol Chem, Ann Arbor, MI 48109 USA
8.Univ Michigan, Dept Biol Chem, Ann Arbor, MI 48109 USA
9.Univ Michigan, Dept Ophthalmol, Ann Arbor, MI 48109 USA
10.Harvard Univ, Sch Med, Charlestown, MA 02129 USA
11.Massachusetts Gen Hosp, Renal Unit, Charlestown, MA 02129 USA
12.Univ Michigan, Dept Biomed Engn, Ann Arbor, MI 48109 USA
13.Univ Michigan, Dept Chem Engn, Ann Arbor, MI 48109 USA
14.Max Planck Inst Biochem, Dept Cell Biol, D-82152 Martinsried, Germany
15.Peking Univ, Sch Oncol, Beijing Inst Canc Res, Dept Biochem & Mol Biol, Beijing 100036, Peoples R China
16.Univ Calif San Diego, Sch Med, Dept Pharmacol & Neurosci, La Jolla, CA 92093 USA
17.Univ Cologne, Dept Pediat, D-5000 Cologne 41, Germany
18.Univ Zurich, Dept Pediat, CH-8006 Zurich, Switzerland
19.Univ Washington, Dept Pediat, Seattle, WA 98105 USA
20.Hannover Med Sch, Inst Mol Biol, D-30625 Hannover, Germany
21.Univ Cologne, Inst Genet, D-5000 Cologne 41, Germany
22.Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Recommended Citation:
Allen, SJ,Wilkinson, CJ,Nigg, EA,et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4[J]. NATURE GENETICS,2006,38(6):674-681.
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