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PMID: 8348153 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.

Nature genetics ·Vol. 4 ·No. 2 ·1993-06-00 ·Pages 147-53

Abitbol M, Menini C, Delezoide AL, Rhyner T, Vekemans M, Mallet J

Abstract

The expression of the FMR-1 gene, which is implicated in fragile-X syndrome was investigated in human fetuses by in situ hybridization. In 8 and 9 week-old fetuses, FMR-1 mRNAs are expressed in proliferating and 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 highest level in cholinergic neurons of the nucleus basalis magnocellularis and in pyramidal neurons of hippocampus. The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation.

Related Genes
MeSH Terms
Animals Base Sequence Brain/embryology,metabolism Cartilage/embryology,metabolism Cell Movement Female Fragile X Mental Retardation Protein Fragile X Syndrome/genetics Ganglia/embryology,metabolism Gene Amplification Gestational Age Hippocampus/embryology,metabolism Humans In Situ Hybridization Liver/embryology,metabolism Male Mice Molecular Sequence Data Nerve Tissue Proteins/biosynthesis,genetics Organ Specificity Phenotype RNA-Binding Proteins Reference Values Repetitive Sequences, Nucleic Acid Spinal Cord/embryology,metabolism Substantia Innominata/embryology,metabolism Twins, Monozygotic
Chemicals
FMR1 protein, human Fmr1 protein, mouse Nerve Tissue Proteins RNA-Binding Proteins Fragile X Mental Retardation Protein
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Abitbol M
Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs CNRS, Gif-sur-Yvette, France.
Menini C
Delezoide A L
Rhyner T
Vekemans M
Mallet J
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
1993-06-00
Pages
147-53
Language
English
Region
United States
NLM ID
9216904
Subset
IM
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