PREMATURE SUTURE CLOSURE AND ECTOPIC CRANIAL BONE IN MICE EXPRESSING MSX2 TRANSGENES IN THE DEVELOPING SKULL
PREMATURE SUTURE CLOSURE AND ECTOPIC CRANIAL BONE IN MICE EXPRESSING MSX2 TRANSGENES IN THE DEVELOPING SKULL
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DOI：
10.1073/pnas.92.13.6137
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发表时间：
1995-06-20
影响因子：
11.1
通讯作者：
MAXSON, RE
中科院分区：
文献类型：
--
作者：
LIU, YH;KUNDU, R;MAXSON, RE
大脑和颅骨的协调生长是通过发育中的大脑、颅骨的生长骨骼和连接骨骼的纤维关节或缝合线之间的一系列相互作用来实现的。这些相互作用将大脑的扩张与缝合线处的骨板的生长耦合在一起，颅缝早闭，颅骨的过早融合，是一种常见的出生缺陷（3000个活产婴儿中有1个），会破坏协调生长，并经常导致严重异常的头骨形状。波士顿型颅缝早闭症是一种常染色体显性遗传病，受其影响的个体携带MSX2的突变拷贝，MSX2是一种被认为在组织相互作用中起作用的同源异型盒基因。在这里，我们表明，这种突变基因的小鼠对应物在转基因小鼠的发育中的头骨的表达导致颅缝早闭和异位颅骨，这些小鼠提供了一个颅缝早闭的转基因模型，以及进入协调大脑和头骨的生长的分子机制的一个切入点。
The coordinate growth of the brain and skull is achieved through a series of interactions between the developing brain, the growing bones of the skull, and the fibrous joints, or sutures, that unite the bones, These interactions couple the expansion of the brain to the growth of the bony plates at the sutures, Craniosynostosis, the premature fusion of the bones of the skull, is a common birth defect (1 in 3000 live births) that disrupts coordinate growth and often results in profoundly abnormal skull shape. Individuals affected with Boston-type craniosynostosis, an autosomal dominant disorder, bear a mutated copy of MSX2, a homeobox gene thought to function in tissue interactions. Here we show that expression of the mouse counterpart of this mutant gene in the developing skulls of transgenic mice causes craniosynostosis and ectopic cranial bone, These mice provide a transgenic model of craniosynostosis as well as a point of entry into the molecular mechanisms that coordinate the growth of the brain and skull.