CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.
CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.
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DOI：
10.3389/fncel.2014.00081
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发表时间：
2014
影响因子：
5.3
通讯作者：
Bardoni B
中科院分区：
文献类型：
--
作者：
Abekhoukh S;Bardoni B
智力残疾（ID）和自闭症谱系障碍（ASD）在某些脑回路和脑异常方面有共同的改变，如突触传递和树突棘形态。最近的研究表明，特定类别的基因的差异表达是这两种疾病的原因，而越来越多的基因被认为是产生这两种疾病的原因。一个例子是脆性X智力低下基因1（FMR 1），其沉默导致脆性X综合征，最常见的ID和自闭症形式，也以身体标志为特征。脆性X智力低下蛋白（Fragile X mental retardation protein，FMRP）是由脆性X智力低下蛋白1（Fragile X mental retardation protein，FMR 1）编码的一种RNA结合蛋白，在翻译调控中起重要作用。在FMRP的相互作用中，CYFIP 1/2（胞质FMRP相互作用蛋白）蛋白是ID和自闭症的良好候选者，基于它们的遗传含义和功能特性，即使CYFIP/FMRP相互作用的确切功能意义尚未被理解。CYFIP 1和CYFIP 2代表Rac 1、WAVE（WAS蛋白家族成员）复合物和FMRP之间的联系，有利于肌动蛋白聚合和翻译控制之间的交叉作用。
Intellectual disability (ID) and autism spectrum disorders (ASDs) have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, the most common form of ID and autism, also characterized by physical hallmarks. Fragile X mental retardation protein (FMRP), the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP, CYFIP1/2 (cytoplasmic FMRP interacting protein) proteins are good candidates for ID and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE (WAS protein family member) complex and FMRP, favoring the cross talk between actin polymerization and translational control.
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