Splicing regulation in neurologic disease

被引:203
作者
Licatalosi, Donny D.
Darnell, Robert B.
机构
[1] Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10021 USA
[2] Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA
关键词
D O I
10.1016/j.neuron.2006.09.017
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
The importance of alternative splicing in the regulation of diverse biological processes is reflected in the growing list of human diseases associated with known or suspected splicing defects. It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating complexity and function in the brain. This review considers the evidence that defects in regulation of splicing may underlie many types of human neurologic diseases.
引用
收藏
页码:93 / 101
页数:9
相关论文
共 99 条
[31]   5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10 [J].
Grover, A ;
Houlden, H ;
Baker, M ;
Adamson, J ;
Lewis, J ;
Prihar, G ;
Pickering-Brown, S ;
Duff, K ;
Hutton, M .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (21) :15134-15143
[32]   The SMN complex [J].
Gubitz, AK ;
Feng, WQ ;
Dreyfuss, G .
EXPERIMENTAL CELL RESEARCH, 2004, 296 (01) :51-56
[33]   The fragile-X premutation: A maturing perspective [J].
Hagerman, PJ ;
Hagerman, RJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :805-816
[34]   A combinatorial code for splicing silencing: UAGG and GGGG motifs [J].
Han, K ;
Yeo, G ;
An, P ;
Burge, CB ;
Grabowski, PJ .
PLOS BIOLOGY, 2005, 3 (05) :843-860
[35]   FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10 [J].
Hasegawa, M ;
Smith, MJ ;
Iijima, M ;
Tabira, T ;
Goedert, M .
FEBS LETTERS, 1999, 443 (02) :93-96
[36]   A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 [J].
Holmes, SE ;
O'Hearn, E ;
Rosenblatt, A ;
Callahan, C ;
Hwang, HS ;
Ingersoll-Ashworth, RG ;
Fleisher, A ;
Stevanin, G ;
Brice, A ;
Potter, NT ;
Ross, CA ;
Margolis, RL .
NATURE GENETICS, 2001, 29 (04) :377-378
[37]   A mouse model for spinal muscular atrophy [J].
Hsieh-Li, HM ;
Chang, JG ;
Jong, YJ ;
Wu, MH ;
Wang, NM ;
Tsai, CH ;
Li, H .
NATURE GENETICS, 2000, 24 (01) :66-70
[38]   Common molecular pathways mediate long-term potentiation of synaptic excitation and slow synaptic inhibition [J].
Huang, CS ;
Shi, SH ;
Ule, J ;
Ruggiu, M ;
Barker, LA ;
Darnell, RB ;
Jan, YN ;
Jan, LY .
CELL, 2005, 123 (01) :105-118
[39]   Protein composition of the intranuclear inclusions of FXTAS [J].
Iwahashi, CK ;
Yasui, DH ;
An, HJ ;
Greco, CM ;
Tassone, F ;
Nannen, K ;
Babineau, B ;
Lebrilla, CB ;
Hagerman, RJ ;
Hagerman, PJ .
BRAIN, 2006, 129 :256-271
[40]   Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability [J].
Jensen, KB ;
Dredge, BK ;
Stefani, G ;
Zhong, R ;
Buckanovich, RJ ;
Okano, HJ ;
Yang, YYL ;
Darnell, RB .
NEURON, 2000, 25 (02) :359-371