Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect.
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.
den Dunnen
J T
JT
Department of Human Genetics, Leiden University, The Netherlands.
Casula
L
L
Makover
A
A
Bakker
B
B
Yaffe
D
D
Nudel
U
U
van Ommen
G J
GJ
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
D016189:Dystrophin