TISSUE SPECIFIC EXPRESSION OF FMR-1 PROVIDES EVIDENCE FOR A FUNCTIONAL-ROLE IN FRAGILE-X SYNDROME

被引:319
作者
HINDS, HL
ASHLEY, CT
SUTCLIFFE, JS
NELSON, DL
WARREN, ST
HOUSMAN, DE
SCHALLING, M
机构
[1] MIT,CTR CANC RES,CAMBRIDGE,MA 02139
[2] BAYLOR COLL MED,HOUSTON,TX 77030
[3] HOWARD HUGHES MED INST,CTR HUMAN GENOME,INST MOLEC GENET,HOUSTON,TX
[4] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,DEPT BIOCHEM,ATLANTA,GA 30322
[5] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,DEPT PEDIAT,ATLANTA,GA 30322
关键词
D O I
10.1038/ng0193-36
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:36 / 43
页数:8
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