Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
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DOI：
10.1006/bbrc.1997.8027
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发表时间：
1998-01
影响因子：
3.1
通讯作者：
A. Simmons;A. Püschel;J. McPherson;J. Overhauser;M. Lovett
中科院分区：
文献类型：
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作者：
A. Simmons;A. Püschel;J. McPherson;J. Overhauser;M. Lovett
Cri-du-chat是由染色体5 p的半合子缺失引起的人类邻接基因缺失综合征。在这里，我们描述了从这个间隔内的人脑信号蛋白F（SEMAF）基因，一个成员的蛋白质家族，已牵连在轴突寻路的分离。人SEMAF基因覆盖了至少10%的缺失区域，并在这个大基因家族中定义了一个新的类别，其特征在于存在7个1型血小板反应蛋白重复序列。在小鼠脑中观察到鼠脑信号蛋白F（Semaf）的显著表达，这与脑信号蛋白F作为在发育期间引导轴突或迁移神经元前体的信号传导分子的作用一致。semaphorins的已知功能和Semaf的有趣表达模式表明，SEMAF的单倍不足可能会破坏正常的大脑发育，并可能导致Cri-du-chat的一些特征。
Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p. Here we describe the isolation from within this interval of the human Semaphorin F (SEMAF) gene, a member of a family of proteins that has been implicated in axonal pathfinding. The human SEMAF gene covers at least 10% of the deleted region and defines a new class within this large gene family characterized by the presence of seven type 1 thrombospondin repeats. Prominent expression of murine semaphorin F (Semaf) was observed in the mouse brain, consistent with a role for semaphorin F as a signaling molecule that guides axons or migrating neuronal precursors during development. The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat.