A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development.
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.
Ceccarini
M
M
Laboratorio di Biologia Cellulare, Istituto Superiore di Sanità, Rome, Italy. mceccarini@net.iss.it
Rizzo
G
G
Rosa
G
G
Chelucci
C
C
Macioce
P
P
Petrucci
T C
TC
D017398:Alternative Splicing; D001665:Binding Sites; D001921:Brain / Q000196:embryology* / Q000378:metabolism; D016189:Dystrophin / Q000031:analogs & derivatives* / Q000096:biosynthesis / Q000235:genetics / Q000378:metabolism; D049029:Dystrophin-Associated Proteins; D005314:Embryonic and Fetal Development; D005091:Exons; D018507:Gene Expression Regulation, Developmental; D014644:Genetic Variation; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism*; D009124:Muscle Proteins / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000378:metabolism; D014158:Transcription, Genetic
D016189:Dystrophin; D049029:Dystrophin-Associated Proteins; D008565:Membrane Proteins; D009124:Muscle Proteins; D011994:Recombinant Proteins; C085339:apo-dystrophin 1; C091824:syntrophin