title: Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect.
abstract: Using a mouse genomic fragment containing the brain-specific promoter region of the dystrophin gene, we have located the brain promoter 75-300 kb proximal of the muscle promoter. Within our DMD-families we detected a patient who lacks both the brain-specific and muscle-specific promoter sequences. The normal intellectual capabilities of the patient argue against an indispensable role of the brain-specific first exon in mental functioning. The possibility exists that a NH2-terminally truncated dystrophin has taken over the function of the normal dystrophins in brain and/or muscle.
authors.affiliation: Department of Human Genetics, Leiden University, The Netherlands.
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: L
authors.initials: L
authors.lastname: Casula
authors.forename: A
authors.initials: A
authors.lastname: Makover
authors.forename: B
authors.initials: B
authors.lastname: Bakker
authors.forename: D
authors.initials: D
authors.lastname: Yaffe
authors.forename: U
authors.initials: U
authors.lastname: Nudel
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
mesh_terms: D000328:Adult; D001921:Brain / Q000503:physiopathology*; D002872:Chromosome Deletion; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D007360:Intelligence / Q000235:genetics*; D008297:Male; D009132:Muscles / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000523:psychology; D011401:Promoter Regions, Genetic; D015183:Restriction Mapping
chemical_list: D016189:Dystrophin