Hinds H L, Ashley C T, Sutcliffe J S, Nelson D L, Warren S T, Housman D E, Schalling M
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139.
Nat Genet. 1993 Jan;3(1):36-43. doi: 10.1038/ng0193-36.
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.
我们分别在小鼠和人类中进行了mRNA原位杂交研究和Northern印迹分析，以确定FMR-1的正常基因表达模式。在成年小鼠中，表达定位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。在早期小鼠胚胎中观察到普遍且非常强的表达，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起始和组织特异性与脆性X表型的参与一致，也提示了可能出现FMR-1基因表达降低临床表现的其他器官系统。
