title: Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid [correction of lymphoplastoid] cells.
abstract: Promoter-specific transcripts of the dystrophin gene in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid cells were analysed using reverse transcription-nested polymerase chain reaction. Two DNA fragments, corresponding to the alternative first exons transcribed from either brain- or muscle-type promoters, were both amplified from cDNA prepared from normal lymphocytes and lymphoblastoid cells. The nucleotide sequences of the amplified products were 100% homologous to the 5' termini of the cDNA of brain- and muscle-type dystrophins, respectively. Neither fragment was amplified from the lymphoblastoid cells of a patient with Duchenne muscular dystrophy, who has a partial deletion involving the brain- and muscle-type promoters in the dystrophin gene. These findings showed that the brain-type as well as the muscle-type promoter of the dystrophin gene was active in lymphocytes and lymphoblastoid cells.
authors.affiliation: Department of Pediatrics, Kobe University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
authors.forename: Y
authors.initials: Y
authors.lastname: Kitoh
authors.forename: N
authors.initials: N
authors.lastname: Narita
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
mesh_terms: D001402:B-Lymphocytes / Q000378:metabolism / Q000382:microbiology; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002461:Cell Line, Transformed; D002472:Cell Transformation, Viral; D018076:DNA, Complementary / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005786:Gene Expression Regulation; D005796:Genes; D004854:Herpesvirus 4, Human; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008214:Lymphocytes / Q000378:metabolism*; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009928:Organ Specificity; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018076:DNA, Complementary; D016189:Dystrophin; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins