Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse
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DOI：
10.1016/j.ygeno.2005.03.007
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发表时间：
2005-07-01
期刊：
影响因子：
4.4
通讯作者：
van Bokhoven, H
中科院分区：
文献类型：
--
作者：
van der Zwaag, B;Burbach, JPH;van Bokhoven, H
遗传性先天性面瘫属于先天性颅神经功能障碍家族，以孤立性面神经功能障碍为特征。虽然这种疾病家族的几个成员已经发现了遗传缺陷，但先天性面瘫和莫比乌斯综合征的潜在基因仍有待发现。在这里，我们关注与染色体3q21-q22连锁的hcfp，并通过RNA原位杂交的方法在小鼠胚胎发育过程中利用表达分析来寻找新的候选基因。我们选择了28个候选位置，并鉴定了17个基因，这些基因在小鼠发育过程中未检测到表达水平，普遍表达，或在未受HCFP影响的组织中表达。通过直接测序或逆转录-聚合酶链式反应分析排除了7个基因。其余4个基因(Klf15、Flj40083、Kia0779和Podxl2)被发现在小鼠发育过程中与人类HCFP区域相关的空间和时间位置上表达，这些基因被定义为HCFP中的主要候选基因。(C)2005 Elsevier Inc.保留所有权利。
Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis and Mobius syndrome remain to be discovered. Here we focus on HCFP linked to chromosome 3q21-q22 and identify new candidate genes using expression analysis by means of RNA in situ hybridization during mouse embryogenesis. We selected 28 positional candidates and identified 17 genes with undetectable expression levels during mouse development, ubiquitous expression, or expression in tissues not affected in HCFP. Additionally, 7 genes were excluded by direct sequence or reverse transcription-PCR analysis. The remaining 4 genes (Klf15, Flj40083, Kiaa0779, and Podxl2) were found to be expressed at spatial and temporal positions during mouse development that correlate with HCFP regions in humans, defining these genes as primary candidates in HCFP. (c) 2005 Elsevier Inc. All rights reserved.