DAX1: Increasing complexity in the roles of this novel nuclear receptor
DAX1: Increasing complexity in the roles of this novel nuclear receptor
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DOI：
10.1016/j.mce.2006.12.017
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发表时间：
2007-02-01
影响因子：
4.1
通讯作者：
McCabe, Edward R. B.
中科院分区：
文献类型：
--
作者：
McCabe, Edward R. B.
DAX1(NR0B1)是一种核受体，具有特征性的C末端配体结合域，但具有非典型的DNA结合域。DAX1基因突变导致先天性肾上腺发育不良(AHC)，确立了其生物学重要性。最近的研究强调了DAX1调节和功能的复杂性。AHC有相当大的表型变异，提示DAX1修饰基因的存在和环境对DAX1功能的影响。DAX1同源二聚体和DAX1异源二聚体与包括DAX1A和SHP在内的许多转录因子伙伴的选择性剪接DAX1A的发现表明，DAX1控制下的转录调控网络扩大。模式生物(小鼠和斑马鱼)正被用来确定其他DAX1功能和修饰基因，以了解AHC的发病机制和缺乏基因型-表型相关性。(C)2006爱思唯尔爱尔兰有限公司。保留所有权利。
DAX1 (NR0B1) is a nuclear receptor with a characteristic C-terminal ligand binding domain, but an atypical DNA binding domain. Mutations in the DAX1 gene cause adrenal hypoplasia congenita (AHC) establishing its biological importance. Recent studies highlight the complexities of DAX1 regulation and function. There is considerable phenotypic variability in AHC suggesting the existence of DAX1 modifier genes and environmental influences on DAX1 function. The findings of an alternatively spliced DAX1A, more common than DAX1 in all tissues except testis, of DAX1 homodimers, and of DAX1 heterodimers with a number of transcription factor partners including DAX1A and SHP point to an expanded transcription regulatory network under DAX1 control. Model organisms (mice and zebrafish) are being used to identify other DAX1 functions and modifier genes to understand the pathogenesis of AHC and the lack of genotype-phenotype correlation. (c) 2006 Elsevier Ireland Ltd. All rights reserved.