The cell biological basis of ciliary disease

被引:117
作者
Marshall, Wallace F. [1 ]
机构
[1] Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
关键词
D O I
10.1083/jcb.200710085
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Defects in cilia cause a broad spectrum of human diseases known collectively as the ciliopathies. Although all ciliopathies arise from defective cilia, the range of symptoms can vary significantly, and only a small subset of the possible ciliary disease symptoms may be present in any given syndrome. This complexity is puzzling until one realizes that the cilia are themselves exceedingly complex machines that perform multiple functions simultaneously, such that breaking one piece of the machine can leave some functions intact while destroying others. The clinical complexity of the ciliopathies can therefore only be understood in light of the basic cell biology of the cilia themselves, which I will discuss from the viewpoint of cell biological studies in model organisms.
引用
收藏
页码:17 / 21
页数:5
相关论文
共 32 条
[1]   Cilia-related diseases [J].
Afzelius, BA .
JOURNAL OF PATHOLOGY, 2004, 204 (04) :470-477
[2]   The ciliopathies: An emerging class of human genetic disorders [J].
Badano, Jose L. ;
Mitsuma, Norimasa ;
Beales, Phil L. ;
Katsanis, Nicholas .
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :125-148
[3]   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
[4]   The graded response to sonic hedgehog depends on cilia architecture [J].
Caspary, Tamara ;
Larkins, Christine E. ;
Anderson, Kathryn V. .
DEVELOPMENTAL CELL, 2007, 12 (05) :767-778
[5]   Sensory cilia and integration of signal transduction in human health and disease [J].
Christensen, Soren T. ;
Pedersen, Lotte B. ;
Schneider, Linda ;
Satir, Peter .
TRAFFIC, 2007, 8 (02) :97-109
[6]   Expanding the role of the dynein regulatory complex to non-axonemal functions: Association of GAS11 with the Golgi apparatus [J].
Colantonio, JR ;
Bekker, JM ;
Kim, SJ ;
Morrissey, KM ;
Crosbie, RH ;
Hill, KL .
TRAFFIC, 2006, 7 (05) :538-548
[7]   Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene [J].
Davy, BE ;
Robinson, ML .
HUMAN MOLECULAR GENETICS, 2003, 12 (10) :1163-1170
[8]   CENTRIOLE AND BASAL BODY FORMATION DURING CILIOGENESIS REVISITED [J].
DIRKSEN, ER .
BIOLOGY OF THE CELL, 1991, 72 (1-2) :31-38
[9]   Cilia and developmental signaling [J].
Eggenschwiler, Jonathan T. ;
Anderson, Kathryn V. .
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, 2007, 23 :345-373
[10]   A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin β interactions [J].
Fan, Shuling ;
Fogg, Vanessa ;
Wang, Qian ;
Chen, Xiao-Wei ;
Liu, Chia-Jen ;
Margolis, Ben .
JOURNAL OF CELL BIOLOGY, 2007, 178 (03) :387-398