PAX - GENE REGULATORS IN THE DEVELOPING NERVOUS-SYSTEM
PAX - GENE REGULATORS IN THE DEVELOPING NERVOUS-SYSTEM
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DOI：
10.1002/neu.480241009
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发表时间：
1993-10-01
期刊：
影响因子：
--
通讯作者：
GRUSS, P
中科院分区：
文献类型：
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作者：
CHALEPAKIS, G;STOYKOVA, A;GRUSS, P
近年来，Pax基因在小鼠中的发现对于我们进一步了解小鼠的发育过程和疾病起到了不可估量的作用。到目前为止，已经克隆了8个小鼠含配对盒的基因。其中7个在发育中的神经系统中表现出独特的时空表达模式，这意味着在发育中的脊髓和大脑的区域规范中发挥作用。Pax基因编码序列特异性DNA结合转录因子，这些转录因子在胚胎发育中起关键作用。这些发育控制基因中有三个在突变小鼠中发生了改变，两个与人类疾病有关。这些Pax基因的破坏导致神经嵴衍生物、神经外胚层、硬节或肌节衍生组织的异常。Pax-3基因的破坏导致小鼠的斑点表型和人类的Waardenburg综合征。Pax-6突变导致小眼小鼠和人类遗传疾病无虹膜。Pax-1基因在波动小鼠中发生突变。Pax蛋白可以转化培养中的细胞，然后在裸鼠中注射后形成肿瘤。与这种活性一致，PAX 3最近被认为与肿瘤腺泡状横纹肌肉瘤的产生有关。(C)John Wiley & Sons，Inc.
In recent years, the discovery of Pax genes in mouse has played an invaluable role in furthering our understanding in mouse developmental processes and disorders. To date, eight murine paired box-containing genes have been cloned. Seven of these exhibit a distinct spatiotemporal expression pattern in the developing nervous system implying a role in the regional specification of the developing spinal cord and brain. The Pax genes encode for sequence-specific DNA binding transcription factors that play a key role in embryonic development. Three of these developmental control genes are altered in mutant mice and two are associated with human diseases. Disruption of these Pax genes leads to abnormalities in neural crest derivatives, neuroectoderm, sclerotome or myotome-derived tissues. Disruption of the Pax-3 gene causes the Splotch phenotype in mice and Waardenburg syndrome in humans. Pax-6 mutations result in Small eye mice and the human genetic disorder aniridia. The Pax-1 gene is mutated in undulated mice. Pax proteins can transform cells in culture which then form tumours following injection in nude mice. Consistent with this activity, PAX3 has been recently implicated in the generation of the tumour alveolar rhabdomyosarcoma. (C) 1993 John Wiley & Sons, Inc.