The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

被引:100
作者
Bacon, Claire [1 ]
Rappold, Gudrun A. [1 ]
机构
[1] Univ Heidelberg, Dept Human Mol Genet, D-69120 Heidelberg, Germany
关键词
ESSENTIAL TRANSCRIPTIONAL REGULATOR; DEVELOPMENTAL VERBAL DYSPRAXIA; AUTISM-SUSCEPTIBILITY GENE; DE-NOVO MUTATIONS; LANGUAGE DISORDER; INHERITED SPEECH; INTELLECTUAL DISABILITY; DIAGNOSTIC BOUNDARIES; BIPOLAR DISORDER; CHROMOSOME; 3P;
D O I
10.1007/s00439-012-1193-z
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Rare disruptions of FOXP2 have been strongly implicated in deficits in language development. Research over the past decade has suggested a role in the formation of underlying neural circuits required for speech. Until recently no evidence existed to suggest that the closely related FOXP1 gene played a role in neurodevelopmental processes. However, in the last few years, novel rare disruptions in FOXP1 have been reported in multiple cases of cognitive dysfunction, including intellectual disability and autism spectrum disorder, together with language impairment. As FOXP1 and FOXP2 form heterodimers for transcriptional regulation, one may assume that they co-operate in common neurodevelopmental pathways through the co-regulation of common targets. Here we compare the phenotypic consequences of FOXP1 and FOXP2 impairment, drawing on well-known studies from the past as well as recent exciting findings and consider what these tell us regarding the functions of these two genes in neural development.
引用
收藏
页码:1687 / 1698
页数:12
相关论文
共 83 条
[1]   Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families [J].
Alarcón, M ;
Cantor, RM ;
Liu, JJ ;
Gilliam, TC ;
Geschwind, DH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :60-71
[2]   Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene [J].
Alarcon, Maricela ;
Abrahams, Brett S. ;
Stone, Jennifer L. ;
Duvall, Jacqueline A. ;
Perederiy, Julia V. ;
Bomar, Jamee M. ;
Sebat, Jonathan ;
Wigler, Michael ;
Martin, Christa L. ;
Ledbetter, David H. ;
Nelson, Stanley E. ;
Cantor, Rita M. ;
Geschwind, Daniel H. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :150-159
[3]  
Banham AH, 2001, CANCER RES, V61, P8820
[4]   IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena [J].
Bennett, CL ;
Ochs, HD .
CURRENT OPINION IN PEDIATRICS, 2001, 13 (06) :533-538
[5]  
Boucher J, 2011, J CHILD PSYCHOL PSYC
[6]   Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency [J].
Carr, Christopher W. ;
Moreno-De-Luca, Daniel ;
Parker, Colette ;
Zimmerman, Holly H. ;
Ledbetter, Nikki ;
Martin, Christa Lese ;
Dobyns, William B. ;
Abdul-Rahman, Omar A. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (11) :1216-1220
[7]  
Casey JP., 2011, Hum Genet
[8]   Foxp1/2/4-NuRD Interactions Regulate Gene Expression and Epithelial Injury Response in the Lung via Regulation of Interleukin-6 [J].
Chokas, Ann L. ;
Trivedi, Chinmay M. ;
Lu, Min Min ;
Tucker, Philip W. ;
Li, Shanru ;
Epstein, Jonathan A. ;
Morrisey, Edward E. .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (17) :13304-13313
[9]   Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1 [J].
Dasen, Jeremy S. ;
De Camilli, Alessandro ;
Wang, Bin ;
Tucker, Philip W. ;
Jessell, Thomas M. .
CELL, 2008, 134 (02) :304-316
[10]   RETRACTED: Methylation mediated silencing of microRNA-1 gene and its role in hepatocellular carcinogenesis (Retracted Article) [J].
Datta, Jharna ;
Kutay, Huban ;
Nasser, Mohd W. ;
Nuovo, Gerard J. ;
Wang, Bo ;
Majumder, Sarmila ;
Liu, Chang-Gong ;
Volinia, Stefano ;
Croce, Carlo M. ;
Schmittgen, Thomas D. ;
Ghoshal, Kalpana ;
Jacob, Samson T. .
CANCER RESEARCH, 2008, 68 (13) :5049-5058