A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development

• Published in: Brain research. Developmental brain research Vol. 103; no. 1; pp. 77 - 82
• Main Authors: Ceccarini, Marina, Rizzo, Giovanni, Rosa, Giuseppina, Chelucci, Cristiana, Macioce, Pompeo, Petrucci, Tamara C
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 20.10.1997
• Subjects: Alternative Splicing; Apo-dystrophin 1; Binding Sites; Brain - embryology; Brain - metabolism; Dp71; Duchenne muscular dystrophy; Dystrophin - analogs & derivatives; Dystrophin - biosynthesis; Dystrophin - genetics; Dystrophin - metabolism; Dystrophin-Associated Proteins; Embryonic and Fetal Development; Exons; Gene Expression Regulation, Developmental; Genetic Variation; Human; Humans; Membrane Proteins - metabolism; Muscle Proteins - metabolism; Nervous system development; Polymerase Chain Reaction; Recombinant Proteins - biosynthesis; Recombinant Proteins - metabolism; Transcription, Genetic; Human; Alternative splicing; Apo-dystrophin 1; Nervous system development; Dp71; Duchenne muscular dystrophy
• ISSN: 0165-3806
• DOI: 10.1016/S0165-3806(97)00122-3

Dp71, a 71 kDa C-terminal isoform of dystrophin, is the major product of the DMD gene in brain. Two alternatively spliced transcripts of Dp71 were amplified by RT-PCR from different areas of human fetal neural tissue. Both transcripts were spliced out of exons 71 and 78. The shorter transcript was also alternatively spliced of exons 72–74, a region comprising the coding sequence for the binding site to syntrophin, one component of the dystrophin-associated protein complex. Results indicate that alternatively spliced forms of Dp71 are regulated during human neural development.