TISSUE SPECIFIC EXPRESSION OF FMR-1 PROVIDES EVIDENCE FOR A FUNCTIONAL-ROLE IN FRAGILE-X SYNDROME
TISSUE SPECIFIC EXPRESSION OF FMR-1 PROVIDES EVIDENCE FOR A FUNCTIONAL-ROLE IN FRAGILE-X SYNDROME
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DOI：
10.1038/ng0193-36
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发表时间：
1993-01-01
期刊：
影响因子：
30.8
通讯作者：
SCHALLING, M
中科院分区：
文献类型：
--
作者：
HINDS, HL;ASHLEY, CT;SCHALLING, M
我们分别对小鼠和人进行了mRNA原位杂交研究和northern blot分析，以确定FMR-1的正常基因表达模式。成年小鼠的表达局限于大脑的几个区域和睾丸的小管，这是脆性X综合征中受影响的两个主要器官。在小鼠早期胚胎中观察到普遍和非常强的表达，在胚胎发育的后续阶段表达差异降低。FMR-1基因表达的早期胚胎发病和组织特异性与脆性X表型的参与是一致的，并且也提示在其他器官系统中可能出现FMR-1基因表达减少的临床表现。
We have performed mRNA in situ hybridization studies and northern blot analysis in the mouse and human, respectively, to determine the normal gene expression patterns of FMR-1. Expression in the adult mouse was localized to several regions of the brain and the tubules of the testes, which are two of the major organs affected in fragile X syndrome. Universal and very strong expression was observed in early mouse embryos, with differentially decreasing expression during subsequent stages of embryonic development. The early embryonic onset and tissue specificity of FMR-1 gene expression is consistent with involvement in the fragile X phenotype, and also suggests additional organ systems in which clinical manifestations of reduced FMR-1 gene expression may occur.