PDF(Pubmed)
Abstract：
Large musculoaponeurotic fibrosarcoma (MAF) transcription factors contain acidic, basic, and leucine zipper regions. Four types of MAF have been elucidated in mice and humans, namely c-MAF, MAFA, MAFB, and NRL. This review aimed to elaborate on the functions of MAF transcription factors that have been studied in vivo so far, as well as describe the pathology of human patients and corresponding mouse models with c-MAF, MAFA, and MAFB point mutations. To identify the functions of MAF transcription factors in vivo, we generated genetically modified mice lacking c-MAF, MAFA, and MAFB and analyzed their phenotypes. Further, in recent years, c-MAF, MAFA, and MAFB have been identified as causative genes underpinning many rare diseases. Careful observation of human patients and animal models is important to examine the pathophysiological mechanisms underlying these conditions for targeted therapies. Murine models exhibit phenotypes similar to those of human patients with c-MAF, MAFA, and MAFB mutations. Therefore, generating these animal models emphasizes their usefulness for research uncovering the pathophysiology of point mutations in MAF transcription factors and the development of etiology-based therapies.
摘要：
大型肌腱膜纤维肉瘤(MAF)转录因子含有酸性、基本的，和亮氨酸拉链区。已经在小鼠和人类中阐明了四种类型的MAF，即c-MAF，MAFA,MAFB,和NRL。这篇综述旨在阐述迄今为止已经在体内研究的MAF转录因子的功能。以及用c-MAF描述人类患者的病理学和相应的小鼠模型，MAFA,和MAFB点突变。为了鉴定MAF转录因子在体内的功能，我们产生了缺乏c-MAF的转基因小鼠，MAFA,和MAFB，并分析了它们的表型。Further,近年来,c-MAF,MAFA,MAFB已被确定为许多罕见疾病的致病基因。仔细观察人类患者和动物模型对于检查靶向治疗这些病症的病理生理机制是重要的。小鼠模型表现出与人类c-MAF患者相似的表型，MAFA,和MAFB突变。因此,这些动物模型的产生强调了它们对于发现MAF转录因子中的点突变的病理生理学和基于病因的疗法的开发的研究的有用性.
