The mouse Mid1 gene:: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region
The mouse Mid1 gene:: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region
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DOI：
10.1093/hmg/7.3.489
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发表时间：
1998-03-01
影响因子：
3.5
通讯作者：
Rugarli, EI
中科院分区：
文献类型：
--
作者：
Dal Zotto, L;Quaderi, NA;Rugarli, EI
我们最近报道了X连锁Opitz G/BBB综合征的基因分离，这是一种中线发育缺陷，位于人类X染色体的远端短臂上（Xp22.3）并编码锌指蛋白B盒家族的一个新成员，我们现在已经克隆了小鼠同源物Xp22.3并在发育过程中进行了初步表达研究，Midi在中枢神经、胃肠道和泌尿生殖系统的未分化细胞中的表达表明，异常细胞增殖可能是Opitz综合征特征性中线发育缺陷的基础。我们还发现Midi位于小家鼠的小鼠假常染色体区（PAR）内，而它似乎是X特异性的小鼠，因此，迷笛很可能是最近收购的M。遗传学和FISH分析也证明了在鼠PAR中的高频率的不等交换，产生涉及Midi的自发缺失/重复事件。这些数据首次证明了PAR的遗传不稳定性可能影响重要的功能基因，此外，我们还证明了PAR是第一个在人类中受到X-失活而在小鼠中逃脱X-失活的基因的例子。这些数据有助于更好地理解啮齿动物PAR的分子内容和进化。
We have recently reported isolation of the gene responsible for X-linked Opitz G/BBB syndrome, a defect of midline development, MIDI is located on the distal short arm of the human X chromosome (Xp22.3) and encodes a novel member of the B box family of zinc finger proteins, We have now cloned the murine homolog of MIDI and performed preliminary expression studies during development, Midi expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome, We have also found that Midi is located within the mouse pseudoautosomal region (PAR) in Mus musculus, while it seems to be X-specific in Mus spretus, Therefore, Midi is likely to be a recent acquisition of the M. musculus PAR, Genetic and FISH analyses also demonstrated a high frequency of unequal crossovers in the murine PAR, creating spontaneous deletion/duplication events involving Midi. These data provide evidence for the first time that genetic instability of the PAR may affect functionally important genes, In addition, we show that MIDI is the first example of a gene subject to X-inactivation in man while escaping it in mouse, These data contribute to a better understanding of the molecular content and evolution of the rodent PAR.