M. Abitbol et al., NUCLEUS BASALIS MAGNOCELLULARIS AND HIPPOCAMPUS ARE THE MAJOR SITES OF FMR-1 EXPRESSION IN THE HUMAN FETAL BRAIN, Nature genetics, 4(2), 1993, pp. 147-153
The expression of the FMR-1 gene, which is implicated in fragile-X syn
drome was investigated in human fetuses by in situ hybridization. In 8
and 9 week-old fetuses, FMR-1 mRNAs are expressed in proliferating an
d migrating cells of the nervous system, in the retina, and in several
non-nervous tissues. In the brain of 25 week-old fetuses, FMR-1 mRNAs
are produced in all nearly differenciated structures, with the highes
t level in cholinergic neurons of the nucleus basalis magnocellularis
and in pyramidal neurons of hippocampus. The early transcription of FM
R- 1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest
that alterations of FMP-1 gene expression may contribute to the patho
genesis of fragile-X syndrome and especially the mental retardation.