Orchestration of Neurodevelopmental Programs by RBFOX1: Implications for Autism Spectrum Disorder

被引：59

作者：

Bill, Brent R. ^{[1
,2
]}

Lowe, Jennifer K. ^{[1
,2
,3
]}

DyBuncio, Christina T. ^{[1
,2
,3
]}

Fogel, Brent L. ^{[3
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Dept Psychiat, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Ctr Neurobehav Genet, Los Angeles, CA 90024 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

来源：

NEUROBIOLOGY OF AUTISM | 2013年 / 113卷

关键词：

GENOME-WIDE ASSOCIATION; COPY NUMBER VARIANTS; RNA-BINDING MOTIFS; MENTAL-RETARDATION; CANDIDATE GENES; PROTEIN; IDENTIFICATION; A2BP1; FOX-1; SCHIZOPHRENIA;

D O I：

10.1016/B978-0-12-418700-9.00008-3

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Neurodevelopmental and neuropsychiatric disorders result from complex interactions between critical genetic factors and as-yet-unknown environmental components. To gain clinical insight, it is critical to develop a comprehensive understanding of these genetic components. RBFOX1, an RNA splicing factor, regulates expression of large genetic networks during early neuronal development, and haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy. Genomic testing in individuals and large patient cohorts has identified phenotypically similar cases possessing copy number variations in RBFOX1, implicating the gene as an important cause of neurodevelopmental disease. However, a significant proportion of the observed structural variation is inherited from phenotypically normal individuals, raising questions regarding overall pathogenicity of variation at the RBFOX1 locus. In this chapter, we discuss the molecular, cellular, and clinical evidence supporting the role of RBFOX1 in neurodevelopment and present a comprehensive model for the contribution of structural variation in RBFOX1 to ASD.

引用

页码：251 / 267

页数：17

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