The nonmotile ciliopathies

被引：146

作者：

Tobin, Jonathan L. ^{[2
]}

Beales, Philip L. ^{[1
]}

机构：

[1] UCL Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

[2] Canc Res United Kingdom London Res Inst, London, England

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 06期

基金：

英国医学研究理事会;

关键词：

ciliopathy; Bardet-Biedl; cilia; nonmotile; genetic disease; BARDET-BIEDL-SYNDROME; POLYCYSTIC KIDNEY-DISEASE; PLANAR CELL POLARITY; VAN-CREVELD-SYNDROME; LEFT-RIGHT ASYMMETRY; INTRAFLAGELLAR TRANSPORT PROTEINS; PRIMARY CILIA FORMATION; BASAL BODY DYSFUNCTION; MECKEL-GRUBER-SYNDROME; CAUSE JOUBERT-SYNDROME;

D O I：

10.1097/GIM.0b013e3181a02882

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field, including new animal models, the role of ciliopathy proteins in signaling pathways and development, and the unusual genetics of these diseases. We also discuss the therapeutic potential for these diseases and finally, discuss important future work that will extend our understanding of this fascinating organelle and its associated pathologies. Genet Med 2009:11(6):386-402.

引用

页码：386 / 402

页数：17

共 146 条

[101] CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa [J].

Noor, Abdul ;

Windpassinger, Christian ;

Patel, Megha ;

Stachowiak, Beata ;

Mikhailov, Anna ;

Azam, Matloob ;

Irfan, Muhammad ;

Siddiqui, Zahid Kamal ;

Naeem, Farooq ;

Paterson, Andrew D. ;

Lutfullah, Muhammad ;

Vincent, John B. ;

Ayub, Muhammad .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :1011-1018

[102] Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya [J].

Oishi, Isao ;

Kawakami, Yasuhiko ;

Raya, Angel ;

Callol-Massot, Carles ;

Belmonte, Juan Carlos Izpisua .

NATURE GENETICS, 2006, 38 (11) :1316-1322

[103] Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis [J].

Olbrich, H ;

Fliegauf, M ;

Hoefele, J ;

Kispert, A ;

Otto, E ;

Volz, A ;

Wolf, MT ;

Sasmaz, G ;

Trauer, U ;

Reinhardt, R ;

Sudbrak, R ;

Antignac, C ;

Gretz, N ;

Walz, G ;

Schermer, B ;

Benzing, T ;

Hildebrandt, F ;

Omran, H .

NATURE GENETICS, 2003, 34 (04) :455-459

[104] Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin [J].

Otto, EA ;

Loeys, B ;

Khanna, H ;

Hellemans, J ;

Sudbrak, R ;

Fan, SL ;

Muerb, U ;

O'Toole, JF ;

Helou, J ;

Attanasio, M ;

Utsch, B ;

Sayer, JA ;

Lillo, C ;

Jimeno, D ;

Coucke, P ;

De Paepe, A ;

Reinhardt, R ;

Klages, S ;

Tsuda, M ;

Kawakami, I ;

Kusakabe, T ;

Omran, H ;

Imm, A ;

Tippens, M ;

Raymond, PA ;

Hill, J ;

Beales, P ;

He, S ;

Kispert, A ;

Margolis, B ;

Williams, DS ;

Swaroop, A ;

Hildebrandt, F .

NATURE GENETICS, 2005, 37 (03) :282-288

[105] Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination [J].

Otto, EA ;

Schermer, B ;

Obara, T ;

O'Toole, JF ;

Hiller, KS ;

Mueller, AM ;

Ruf, RG ;

Hoefele, J ;

Beekmann, F ;

Landau, D ;

Foreman, JW ;

Goodship, JA ;

Strachan, T ;

Kispert, A ;

Wolf, MT ;

Gagnadoux, MF ;

Nivet, H ;

Antignac, C ;

Walz, G ;

Drummond, IA ;

Benzing, T ;

Hildebrandt, F .

NATURE GENETICS, 2003, 34 (04) :413-420

[106] NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis [J].

Otto, Edgar A. ;

Trapp, Melissa L. ;

Schultheiss, Ulla T. ;

Helou, Juliana ;

Quarmby, Lynne M. ;

Hildebrandt, Friedhelm .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2008, 19 (03) :587-592

[107] Functional coordination of intraflagellar transport motors [J].

Ou, GS ;

Blacque, OE ;

Snow, JJ ;

Leroux, MR ;

Scholey, JM .

NATURE, 2005, 436 (7050) :583-587

[108] Clinical and genetic heterogeneity in Meckel syndrome [J].

Paavola, P ;

Salonen, R ;

Baumer, A ;

Schinzel, A ;

Boyd, PA ;

Gould, S ;

Meusburger, H ;

Tenconi, R ;

Barnicoat, A ;

Winter, R ;

Peltonen, L .

HUMAN GENETICS, 1997, 101 (01) :88-92

[109] AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome [J].

Parisi, MA ;

Doherty, D ;

Eckert, ML ;

Shaw, DWW ;

Ozyurek, H ;

Aysun, S ;

Giray, O ;

Al Swaid, A ;

Al Shahwan, S ;

Dohayan, N ;

Bakhsh, E ;

Indridason, OS ;

Dobyns, WB ;

Bennett, CL ;

Chance, PF ;

Glass, IA .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) :334-339

[110] Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells [J].

Park, Tae Joo ;

Mitchell, Brian J. ;

Abitua, Philip B. ;

Kintner, Chris ;

Wallingford, John B. .

NATURE GENETICS, 2008, 40 (07) :871-879

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