Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome

被引：16
作者：
Chen, Huei-Ying [1 ]
Bohlen, Joseph F. [1 ]
Maher, Brady J. [1 ,2 ,3 ]
机构：
[1] Johns Hopkins Med Campus, Lieber Inst Brain Dev, Baltimore, MD 21205 USA
[2] Johns Hopkins Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA
[3] Johns Hopkins Sch Med, Dept Neurosci, Baltimore, MD 21205 USA
来源：
DEVELOPMENTAL NEUROSCIENCE | 2021年 / 43卷 / 3-4期
关键词：
Transcription factor 4; Neurodevelopmental disorder; Pitt-Hopkins syndrome; Oligodendrocyte; Basic helix-loop-helix;
D O I：
10.1159/000516666
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. In this review, we provide an update on the progress regarding our understanding of TCF4 function at the molecular, cellular, physiological, and behavioral levels with a focus on phenotypes and therapeutic interventions. We examine upstream and downstream regulatory networks associated with TCF4 and discuss a range of in vitro and in vivo data with the aim of understanding emerging TCF4-specific mechanisms relevant for disease pathophysiology. In conclusion, we provide comments about exciting future avenues of research that may provide insights into potential new therapeutic targets for PTHS.
引用
收藏
页码：159 / 167
页数：9
相关论文
共 58 条
  • [1] Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    Amiel, Jeanne
    Rio, Marlene
    de Pontual, Loic
    Redon, Richard
    Malan, Valerie
    Boddaert, Nathalie
    Plouin, Perrine
    Carter, Nigel P.
    Lyonnet, Stanislas
    Munnich, Arnold
    Colleaux, Laurence
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (05) : 988 - 993
  • [2] Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
    Bedeschi, Maria Francesca
    Marangi, Giuseppe
    Calvello, Maria Rosaria
    Ricciardi, Stefania
    Leone, Francesca Pia Chiara
    Baccarin, Marco
    Guerneri, Silvana
    Orteschi, Daniela
    Murdolo, Marina
    Lattante, Serena
    Frangella, Silvia
    Keena, Beth
    Harr, Margaret H.
    Zackai, Elaine
    Zollino, Marcella
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (11) : 565 - 571
  • [3] Proneural genes and the specification of neural cell types
    Bertrand, N
    Castro, DS
    Guillemot, F
    [J]. NATURE REVIEWS NEUROSCIENCE, 2002, 3 (07) : 517 - 530
  • [4] Casarosa S, 1999, DEVELOPMENT, V126, P525
  • [5] THE MATERNAL SEX DETERMINATION GENE DAUGHTERLESS HAS ZYGOTIC ACTIVITY NECESSARY FOR THE FORMATION OF PERIPHERAL NEURONS IN DROSOPHILA
    CAUDY, M
    GRELL, EH
    DAMBLYCHAUDIERE, C
    GHYSEN, A
    JAN, LY
    JAN, YN
    [J]. GENES & DEVELOPMENT, 1988, 2 (07) : 843 - 852
  • [6] Tcf4 Controls Neuronal Migration of the Cerebral Cortex through Regulation of Bmp7
    Chen, Tianda
    Wu, Qinwei
    Zhang, Yang
    Lu, Tianlan
    Yue, Weihua
    Zhang, Dai
    [J]. FRONTIERS IN MOLECULAR NEUROSCIENCE, 2016, 9
  • [7] A TAF4 coactivator function for E proteins that involves enhanced TFIID binding
    Chen, Wei-Yi
    Zhang, Jinsong
    Geng, Huimin
    Du, Zhimei
    Nakadai, Tomoyoshi
    Roeder, Robert G.
    [J]. GENES & DEVELOPMENT, 2013, 27 (14) : 1596 - 1609
  • [8] Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
    Cisse, Babacar
    Caton, Michele L.
    Lehner, Manfred
    Maeda, Takahiro
    Scheu, Stefanie
    Locksley, Richard
    Holmberg, Dan
    Zweier, Christiane
    den Hollander, Nicolette S.
    Kant, Sarina G.
    Holter, Wolfgang
    Rauch, Anita
    Zhuang, Yuan
    Reizis, Boris
    [J]. CELL, 2008, 135 (01) : 37 - 48
  • [9] Type I bHLH Proteins Daughterless and Tcf4 Restrict Neurite Branching and Synapse Formation by Repressing Neurexin in Postmitotic Neurons
    D'Rozario, Mitchell
    Zhang, Ting
    Waddell, Edward A.
    Zhang, Yonggang
    Sahin, Cem
    Sharoni, Michal
    Hu, Tina
    Nayal, Mohammad
    Kutty, Kaveesh
    Liebl, Faith
    Hu, Wenhui
    Marenda, Daniel R.
    [J]. CELL REPORTS, 2016, 15 (02): : 386 - 397
  • [10] High-throughput screening and Bayesian machine learning for copper-dependent inhibitors of Staphylococcus aureus
    Dalecki, Alex G.
    Zorn, Kimberley M.
    Clark, Alex M.
    Ekins, Sean
    Narmore, Whitney T.
    Tower, Nichole
    Rasmussen, Lynn
    Bostwick, Robert
    Kutsch, Olaf
    Wolschendorf, Frank
    [J]. METALLOMICS, 2019, 11 (03) : 696 - 706
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