New perspectives on the biology of fragile X syndrome

被引：89
作者：
Wang, Tao [1 ,2 ]
Bray, Steven M. [1 ]
Warren, Stephen T. [1 ,3 ]
机构：
[1] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
[2] Emory Univ, Genet & Mol Biol Grad Program, Atlanta, GA 30322 USA
[3] Emory Univ, Dept Pediat & Biochem, Sch Med, Atlanta, GA 30322 USA
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 2012年 / 22卷 / 03期
关键词：
MENTAL-RETARDATION PROTEIN; EMBRYONIC STEM-CELLS; MESSENGER-RNA; MOUSE MODEL; NEURONAL CELLS; FULL MUTATION; FMR1; GENE; POLYRIBOSOMES; TRANSLATION; PLASTICITY;
D O I：
10.1016/j.gde.2012.02.002
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided increased support for the role of FMRP in translational repression via ribosomal stalling and the microRNA pathway. In neurons, particular focus has been placed on identifying the signaling pathways such as PI3K and mTOR downstream of group 1 metabotropic glutamate receptors (mGluR1/5) that regulate FMRP. New evidence also suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis. In addition, studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of FMR1.
引用
收藏
页码：256 / 263
页数：8
相关论文
共 51 条
  • [1] [Anonymous], EX VAR SERV
  • [2] Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function[J]. Bassell, Gary J.;Warren, Stephen T. NEURON, 2008(02)
  • [3] A Novel Function for Fragile X Mental Retardation Protein in Translational Activation[J]. Bechara, Elias G.;Didiot, Marie Cecile;Melko, Mireille;Davidovic, Laetitia;Bensaid, Mounia;Martin, Patrick;Castets, Marie;Pognonec, Philippe;Khandjian, Edouard W.;Moine, Herve;Bardoni, Barbara. PLOS BIOLOGY, 2009(01)
  • [4] The Behavioral Phenotype of FMR1 Mutations[J]. Boyle, Lia;Kaufmann, Walter E. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2010(04)
  • [5] Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack[J]. Brown, Maile R.;Kronengold, Jack;Gazula, Valeswara-Rao;Chen, Yi;Strumbos, John G.;Sigworth, Fred J.;Navaratnam, Dhasakumar;Kaczmarek, Leonard K. NATURE NEUROSCIENCE, 2010(07)
  • [6] Phosphorylation influences the translation state of FMRP-associated polyribosomes[J]. Ceman, S;O'Donnell, WT;Reed, M;Patton, S;Pohl, J;Warren, ST. HUMAN MOLECULAR GENETICS, 2003(24)
  • [7] The story of Rett syndrome: From clinic to neurobiology[J]. Chahrour, Maria;Zoghbi, Huda Y. NEURON, 2007(03)
  • [8] Phosphorylation of FMRP inhibits association with Dicer[J]. Cheever, Anne;Ceman, Stephanie. RNA, 2009(03)
  • [9] Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis:: A case report and review of the literature[J]. Coffee, Bradford;Ikeda, Morna;Budimirovic, Dejan B.;Hjelm, Lawrence N.;Kaufmann, Walter E.;Warren, Stephen T. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008(10)
  • [10] Identification of Novel FMR1 Variants by Massively Parallel Sequencing in Developmentally Delayed Males[J]. Collins, Stephen C.;Bray, Steven M.;Suhl, Joshua A.;Cutler, David J.;Coffee, Bradford;Zwick, Michael E.;Warren, Stephen T. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010(10)
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