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学科主题: 临床医学
题名:
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
作者: Chang, Bo; Khanna, Hemant; Hawes, Norman; Jimeno, David; He, Shirley; Lillo, Concepcion; Parapuram, Sunil K.; Cheng, Hong; Scott, Alison; Hurd, Ron E.; Sayer, John A.; Otto, Edgar A.; Attanasio, Massimo; O′ Toole, John F.; Jin, Genglin; Shou, Chengchao; Hildebrandt, Friedhelm; Williams, David S.; Heckenlively, John R.; Swaroop, Anand
刊名: HUMAN MOLECULAR GENETICS
发表日期: 2006-06-01
DOI: 10.1093/hmg/ddl107
卷: 15, 期:11, 页:1847-1857
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]: LINKED RETINITIS-PIGMENTOSA ; REGULATOR (RPGR)-INTERACTING PROTEIN ; INTRAFLAGELLAR TRANSPORT IFT ; LEBER CONGENITAL AMAUROSIS ; BARDET-BIEDL-SYNDROME ; CONNECTING CILIUM ; BETA-SUBUNIT ; KINESIN-II ; GENE ; MICE
英文摘要:

Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate strategy, we have identified an in-frame deletion in a novel centrosomal protein CEP290 (also called NPHP6), leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16. We demonstrate that CEP290 localizes primarily to centrosomes of dividing cells and to the connecting cilium of retinal photoreceptors. We show that, in the retina, CEP290 associates with several microtubule-based transport proteins including RPGR, which is mutated in similar to 15% of patients with retinitis pigmentosa. A truncated CEP290 protein (Delta CEP290) is detected in the rd16 retina, but in considerably reduced amounts; however, the mutant protein exhibits stronger association with specific RPGR isoform(s). Immunogold labeling studies demonstrate the redistribution of RPGR and of phototransduction proteins in the photoreceptors of rd16 retina. Our findings suggest a critical function for CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration.

语种: 英语
WOS记录号: WOS:000237696700011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66629
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.Univ Michigan, Dept Optometry & Visual Sci, Ann Arbor, MI 48109 USA
2.Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA
3.Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
4.Univ Calif San Diego, Sch Med, Dept Pharmacol, La Jolla, CA 92093 USA
5.Univ Calif San Diego, Sch Med, Dept Neurosci, La Jolla, CA 92093 USA
6.Peking Univ, Dept Biochem & Mol Biol, Sch Oncol, Beijing Inst Canc Res, Beijing 100034, Peoples R China
7.Jackson Lab, Bar Harbor, ME 04609 USA

Recommended Citation:
Chang, Bo,Khanna, Hemant,Hawes, Norman,et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse[J]. HUMAN MOLECULAR GENETICS,2006,15(11):1847-1857.
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