Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.
Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.
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DOI：
10.1155/2013/305971
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发表时间：
2013
影响因子：
2.9
通讯作者：
Kathju S
中科院分区：
文献类型：
--
作者：
Gallo PH;Cray JJ Jr;Durham EL;Mooney MP;Cooper GM;Kathju S
颅缝融合是指颅顶缝线过早融合。我们之前已经描述了一群具有可遗传模式的非综合征型冠状缝合融合的兔；然而，潜在的遗传缺陷仍然未知。我们现在报道一项分子分析，以确定在这一独特的兔模型中，与人类颅突融合有关的四个基因Twist1和成纤维细胞生长因子受体1-3(FGFR1-3)是否可能是导致突变的基因。在Twist1、FGFR1和FGFR2基因中发现了单核苷酸多态(SNPs)，并对22只颅脑融合症兔的这些沉默突变的等位基因模式进行了检测。对Twist1、FGFR1和FGFR2基因的SNP分析表明，没有一个基因是颅突融合表型的起源。此外，Twist1和FGFR3cDNAs的直接序列分析没有发现结构突变。这些数据表明，在这种兔模型中，遗传性颅缝早闭的致病基因不在Twist1、FGFR1和FGFR2基因内。尽管在FGFR3的内含子或侧翼序列中仍有可能存在一个位点，但没有发现FGFR3的直接结构突变。
Craniosynostosis is the premature fusion of the cranial vault sutures. We have previously described a colony of rabbits with a heritable pattern of nonsyndromic, coronal suture synostosis; however, the underlying genetic defect remains unknown. We now report a molecular analysis to determine if four genes implicated in human craniosynostosis, TWIST1 and fibroblast growth factor receptors 1–3 (FGFR1–3), could be the loci of the causative mutation in this unique rabbit model. Single nucleotide polymorphisms (SNPs) were identified within the Twist1, FGFR1, and FGFR2 genes, and the allelic patterns of these silent mutations were examined in 22 craniosynostotic rabbits. SNP analysis of the Twist1, FGFR1, and FGFR2 genes indicated that none were the locus of origin of the craniosynostotic phenotype. In addition, no structural mutations were identified by direct sequence analysis of Twist1 and FGFR3 cDNAs. These data indicate that the causative locus for heritable craniosynostosis in this rabbit model is not within the Twist1, FGFR1, and FGFR2 genes. Although a locus in intronic or flanking sequences of FGFR3 remains possible, no direct structural mutation was identified for FGFR3.
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影响因子：
0.9
作者：
Carinci, F;Pezzetti, F;Bodo, M
通讯作者：
Bodo, M
影响因子：
--
作者：
Carver, EA;Oram, KF;Gridley, T
通讯作者：
Gridley, T
影响因子：
5.2
作者：
de Ravel, TJL;Taylor, IB;Wilkie, AOM
通讯作者：
Wilkie, AOM
影响因子：
6.2
作者：
Bonaventure, Jacky;El Ghouzzi, Vincent
通讯作者：
El Ghouzzi, Vincent
DOI：
10.1016/j.bjps.2007.10.042
发表时间：
2009-02-01
影响因子：
2.7
作者：
Chatterjee, Justin S.;Mahmoud, Mahtab;Nishikawa, Hiroshi
通讯作者：
Nishikawa, Hiroshi