The genetic basis for skeletal diseases

被引:190
作者
Zelzer, E [1 ]
Olsen, BR [1 ]
机构
[1] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA
关键词
D O I
10.1038/nature01659
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: "nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path".
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页码:343 / 348
页数:6
相关论文
共 75 条
[1]   Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 [J].
Afzal, AR ;
Rajab, A ;
Fenske, CD ;
Oldridge, M ;
Elanko, N ;
Ternes-Pereira, E ;
Tüysüz, B ;
Murday, VA ;
Patton, MA ;
Wilkie, AOM ;
Jeffery, S .
NATURE GENETICS, 2000, 25 (04) :419-422
[2]   The transcrintion factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6 [J].
Akiyama, H ;
Chaboissier, MC ;
Martin, JF ;
Schedl, A ;
de Crombrugghe, B .
GENES & DEVELOPMENT, 2002, 16 (21) :2813-2828
[3]   SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) [J].
Belin, V ;
Cusin, V ;
Viot, G ;
Girlich, D ;
Toutain, A ;
Moncla, A ;
Vekemans, M ;
Le Merrer, M ;
Munnich, A ;
Cormier-Daire, V .
NATURE GENETICS, 1998, 19 (01) :67-69
[4]   SOX9 directly regulates the type-II collagen gene [J].
Bell, DM ;
Leung, KKH ;
Wheatley, SC ;
Ng, LJ ;
Zhou, S ;
Ling, KW ;
Sham, MH ;
Koopman, P ;
Tam, PPL ;
Cheah, KSE .
NATURE GENETICS, 1997, 16 (02) :174-178
[5]   A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA [J].
BELLUS, GA ;
MCINTOSH, I ;
SMITH, EA ;
AYLSWORTH, AS ;
KAITILA, I ;
HORTON, WA ;
GREENHAW, GA ;
HECHT, JT ;
FRANCOMANO, CA .
NATURE GENETICS, 1995, 10 (03) :357-359
[6]   Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization [J].
Bi, WM ;
Huang, WD ;
Whitworth, DJ ;
Deng, JM ;
Zhang, ZP ;
Behringer, RR ;
de Crombrugghe, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (12) :6698-6703
[7]  
BOBER E, 1994, DEVELOPMENT, V120, P603
[8]   Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton [J].
Brunet, LJ ;
McMahon, JA ;
McMahon, AP ;
Harland, RM .
SCIENCE, 1998, 280 (5368) :1455-1457
[9]   Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis [J].
Bulman, MP ;
Kusumi, K ;
Frayling, TM ;
McKeown, C ;
Garrett, C ;
Lander, ES ;
Krumlauf, R ;
Hattersley, AT ;
Ellard, S ;
Turnpenny, PD .
NATURE GENETICS, 2000, 24 (04) :438-441
[10]   Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3 [J].
Colvin, JS ;
Bohne, BA ;
Harding, GW ;
McEwen, DG ;
Ornitz, DM .
NATURE GENETICS, 1996, 12 (04) :390-397