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首页> 外文期刊>Critical reviews in oncogenesis >The role of Pax3 and Pax7 in development and cancer.
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The role of Pax3 and Pax7 in development and cancer.

机译：Pax3和Pax7在发育和癌症中的作用。

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Pax genes consist of a family of transcription factors that are essentially required for the genesis of a variety of tissues and organs. Pax3 and Pax7 are specifically expressed in the dorsal neural tube and the developing somite. Loss-of-function mutations of Pax3 in Splotch mice and in Waardenburg syndrome in man revealed that Pax3 is necessary for the proper formation of caudal neural crest derivatives and for the migration of myoblasts into the limb. Mice with a mutated Pax7 gene suffer from defects in cephalic neural crest derivatives only and indicate that both genes may functionally share some redundancy. Gain-of-function mutations creating fusion proteins consisting of PAX3 or PAX7 and another transcription factor of the forkhead family (FKHR) are associated with alveolar rhabdomyosarcomas. The analyses of Pax3 and Pax7 function in normal development indicate that Pax3 (possibly also Pax7) triggers neoplastic development by maintaining cells in a deregulated undifferentiated and proliferative state in alveolar rhabdomyosarcomas.
机译：Pax基因由一系列转录因子组成，这是各种组织和器官发生所必需的。 Pax3和Pax7在背神经管和发育中的somite中特异性表达。 Palot3在人类Splotch小鼠和Waardenburg综合征中的功能丧失突变表明，Pax3对于正确形成尾神经c衍生物和成肌细胞迁移到肢体是必需的。 Pax7基因突变的小鼠仅患有头神经neural衍生物的缺陷，表明这两个基因可能在功能上共享一些冗余。功能增益突变产生融合蛋白，该融合蛋白由PAX3或PAX7和叉头家族的另一种转录因子（FKHR）组成，与肺泡横纹肌肉瘤相关。对Pax3和Pax7在正常发育中的功能的分析表明，Pax3（也可能是Pax7）通过使细胞保持在肺泡横纹肌肉瘤的失控的未分化和增生状态来触发肿瘤形成。

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