Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?

被引：225

作者：

Hildebrandt, F

Otto, E

机构：

[1] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 12期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg1727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are expressed in sensory organelles called primary cilia, in basal bodies or in centrosomes. Primary cilia link mechanosensory, visual, osmotic, gustatory and other stimuli to mechanisms of cell-cycle control and epithelial cell polarity. The ciliary expression of cystoproteins explains why many other organs might be also affected in patients with cystic kidney disease. Protein-protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.

引用

收藏

页码：928 / 940

页数：13

相关论文

共 145 条

[1] Proteomic characterization of the human centrosome by protein correlation profiling [J].

Andersen, JS ;

Wilkinson, CJ ;

Mayor, T ;

Mortensen, P ;

Nigg, EA ;

Mann, M .

NATURE, 2003, 426 (6966) :570-574

[2] Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome [J].

Ansley, SJ ;

Badano, JL ;

Blacque, OE ;

Hill, J ;

Hoskins, BE ;

Leitch, CC ;

Kim, JC ;

Ross, AJ ;

Eichers, ER ;

Teslovich, TM ;

Mah, AK ;

Johnsen, RC ;

Cavender, JC ;

Lewis, RA ;

Leroux, MR ;

Beales, PL ;

Katsanis, N .

NATURE, 2003, 425 (6958) :628-633

[3] The polycystic kidney disease 1 gene product mediates protein kinase C α-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1 [J].

Arnould, T ;

Kim, E ;

Tsiokas, L ;

Jochimsen, F ;

Grüning, W ;

Chang, JD ;

Walz, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (11) :6013-6018

[4] JUVENILE CYSTIC KIDNEYS (JCK) - A NEW MOUSE MUTATION WHICH CAUSES POLYCYSTIC KIDNEYS [J].

ATALA, A ;

FREEMAN, MR ;

MANDELL, J ;

BEIER, DR .

KIDNEY INTERNATIONAL, 1993, 43 (05) :1081-1085

[5]

Avner ED, 1999, INT J DEV BIOL, V43, P457

[6] Renal effects of Tamm-Horsfall protein (uromodulin) deticiency in mice [J].

Bachmann, S ;

Mutig, K ;

Bates, J ;

Welker, P ;

Geist, B ;

Gross, V ;

Luft, FC ;

Alenina, N ;

Bader, M ;

Thiele, BJ ;

Prasadan, K ;

Raffi, HS ;

Kumar, S .

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 2005, 288 (03) :F559-F567

[7] The centrosome in human genetic disease [J].

Badano, JL ;

Teslovich, TM ;

Katsanis, N .

NATURE REVIEWS GENETICS, 2005, 6 (03) :194-205

[8] Beyond Mendel: An evolving view of human genetic disease transmission [J].

Badano, JL ;

Katsanis, N .

NATURE REVIEWS GENETICS, 2002, 3 (10) :779-789

[9] Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2 [J].

Badano, JL ;

Ansley, SJ ;

Leitch, CC ;

Lewis, RA ;

Lupski, JR ;

Katsanis, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :650-658

[10] The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway [J].

Barr, MM ;

DeModena, J ;

Braun, D ;

Nguyen, CQ ;

Hall, DH ;

Sternberg, PW .

CURRENT BIOLOGY, 2001, 11 (17) :1341-1346

← 1 2 3 4 5 6 7 8 9 10 →