GENE TRAP CAPTURE OF A NOVEL MOUSE GENE, JUMONJI, REQUIRED FOR NEURAL-TUBE FORMATION
GENE TRAP CAPTURE OF A NOVEL MOUSE GENE, JUMONJI, REQUIRED FOR NEURAL-TUBE FORMATION
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DOI：
10.1101/gad.9.10.1211
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发表时间：
1995-05-15
影响因子：
10.5
通讯作者：
HIGASHINAKAGAWA, T
中科院分区：
文献类型：
--
作者：
TAKEUCHI, T;YAMAZAKI, Y;HIGASHINAKAGAWA, T
一个小鼠突变，称为jumonji（jmj），是通过基因诱捕策略产生的。通过X-gal染色监测，捕获基因（jmj基因）的表达主要在中脑-后脑边界和小脑中检测到，具体取决于发育阶段。所有jmj突变纯合子胚胎在胚胎第15.5天之前死亡。一些，但不是所有的纯合子，在胚胎第8-8.5天的神经板上的中脑-后脑边界前的一个区域中出现了一个异常的沟，并显示出中脑区域的神经管闭合缺陷。jmj cDNA的分析表明，jmj基因是新的，保守的脊椎动物，并破坏了载体插入的jmj纯合子。从cDNA推导出的氨基酸序列与人视网膜母细胞瘤结合蛋白RBP-2和由人基因XE 169编码的逃避X染色体失活的推定蛋白具有显著的同源性。这些结果表明，jmj基因是神经管正常形态发生所必需的。
A mouse mutation, termed jumonji (jmj), was generated by a gene trap strategy. Expression of the trapped gene (jmj gene), as monitored by X-gal staining, was detected predominantly at the midbrain-hindbrain boundary and in the cerebellum, depending on the stage of development. All embryos homozygous for the jmj mutation died before embryonic day 15.5. Some, but not all, of the homozygotes developed an abnormal groove in a region just anterior to the midbrain-hindbrain boundary on the neural plate at embryonic day 8-8.5 and showed a defect in neural tube closure in the midbrain region. Analyses of jmj cDNA revealed that the jmj gene is novel, conserved among vertebrates, and disrupted by vector insertion in the jmj homozygotes. The amino acid sequence deduced from the cDNA shared a portion of significant homology with human retinoblastoma-binding protein RBP-2 and with a putative protein encoded by human gene XE169 that escapes X-chromosome inactivation. These results suggest that jmj gene is essential for normal morphogenesis of the neural tube.