title: Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.
abstract: Fragile X syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile X mental retardation gene FMR1 are poorly understood. To identify sequences regulating FMR1 transcription, transgenic mouse lines were established using a fusion gene consisting of an E.coli beta-galactosidase reporter gene (lacZ) linked to a 2.8 kb fragment spanning the 5'-region of FMR1. Five transgenic mouse lines showed lacZ expression in brain, in particular in neurons of the hippocampus and the granular layer of the cerebellum. Expression of the reporter gene was also detected in Leydig cells and spermatogonia in the testis, in many epithelia of adult mice, and in the two other steroidogenic cell types, adrenal cortex cells and ovarian follicle cells. Embryonic tissues which showed strong activity of the reporter gene included the telencephalon, the genital ridge, and the notochord. This expression pattern closely resembles the endogenous one, indicating that the 5' FMR1 gene promoter region used in this study contains most cis-acting elements regulating FMR1 transcription.
authors.affiliation: Institut für Medizinische Genetik, Universität Zürich, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Hergersberg
authors.forename: K
authors.initials: K
authors.lastname: Matsuo
authors.forename: M
authors.initials: M
authors.lastname: Gassmann
authors.forename: W
authors.initials: W
authors.lastname: Schaffner
authors.forename: B
authors.initials: B
authors.lastname: Lüscher
authors.forename: T
authors.initials: T
authors.lastname: Rülicke
authors.forename: A
authors.initials: A
authors.lastname: Aguzzi
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D001921:Brain / Q000196:embryology / Q000378:metabolism; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000196:embryology / Q000235:genetics / Q000378:metabolism*; D005786:Gene Expression Regulation; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D009419:Nerve Tissue Proteins / Q000096:biosynthesis* / Q000235:genetics; D009672:Notochord / Q000378:metabolism; D009928:Organ Specificity; D010053:Ovary / Q000378:metabolism; D011247:Pregnancy; D016601:RNA-Binding Proteins; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis / Q000235:genetics; D015183:Restriction Mapping; D013093:Spermatogonia / Q000378:metabolism; D013687:Telencephalon / Q000196:embryology / Q000378:metabolism; D014158:Transcription, Genetic; D001616:beta-Galactosidase / Q000235:genetics / Q000378:metabolism
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D011993:Recombinant Fusion Proteins; D001616:beta-Galactosidase; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse