作为细胞信号中心的初级纤毛：疾病带来的启示
The primary cilium as a cellular signaling center: lessons from disease.
作者信息
Lancaster Madeline A, Gleeson Joseph G
机构信息
Biomedical Sciences Program, Department of Neurosciences, University of California, San Diego, United States.
出版信息
Curr Opin Genet Dev. 2009 Jun;19(3):220-9. doi: 10.1016/j.gde.2009.04.008. Epub 2009 May 22.
Abstract
Genetic diseases known as ciliopathies have recently entered the limelight, placing new importance on a previously mysterious organelle: the primary cilium. Mutations affecting the primary cilium in both humans and animal models can lead to a plethora of distinct phenotypes including retinal degeneration, kidney cysts, and brain malformations. New findings are quickly lending insight into the functions of this cellular extension that seems to be especially important in modulation of subcellular signaling cascades at various stages of development and adult homeostasis.
摘要
被称为纤毛病的遗传疾病最近备受关注，使一个以前神秘的细胞器——初级纤毛——有了新的重要性。影响人类和动物模型中初级纤毛的突变可导致大量不同的表型，包括视网膜变性、肾囊肿和脑畸形。新的发现正在迅速揭示这种细胞延伸结构的功能，它似乎在发育和成年稳态的各个阶段对亚细胞信号级联的调节中特别重要。
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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. doi: 10.1073/pnas.0812518106. Epub 2009 Feb 3.
2
Association of common variants in the Joubert syndrome gene (AHI1) with autism.
Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9.
3
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.
4
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling.
Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13127-32. doi: 10.1073/pnas.0804558105. Epub 2008 Aug 26.
5
TRPP2 and TRPV4 form a polymodal sensory channel complex.
J Cell Biol. 2008 Aug 11;182(3):437-47. doi: 10.1083/jcb.200805124.
6
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
Dev Cell. 2008 Aug;15(2):187-97. doi: 10.1016/j.devcel.2008.07.004.
7
WNT/beta-catenin signaling in nephron progenitors and their epithelial progeny.
Kidney Int. 2008 Oct;74(8):1004-8. doi: 10.1038/ki.2008.322. Epub 2008 Jul 16.
8
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
9
Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.
Nat Genet. 2008 Aug;40(8):1010-5. doi: 10.1038/ng.179. Epub 2008 Jul 6.
10
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways.
Dev Cell. 2008 Jun;14(6):954-61. doi: 10.1016/j.devcel.2008.03.010.
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