Dp140: alternatively spliced isoforms in brain and kidney.
Dp140, a protein composed of the distal rod domain and carboxy-terminal domain of dystrophin, is expressed only in brain and kidney; transcription is initiated at a unique first exon located in dystrophin intron 44. Both tissues express specific isoforms with distinct alternative splicing of exons 71-74 and 78. The carboxy-terminal domain of Dp140 is identical to that of full-length 427-kDa dystrophin, and it is this region that is associated, with the "dystrophin-associated protein" complex in skeletal muscle. Alternative splicing encodes domains that have been shown to be protein-binding regions; thus this alternative splicing may regulate the association of Dp140 with integral membrane proteins. The 5' flanking region of genomic DNA adjacent to the Dp140 first exon contains a variety of transcription factor-binding motifs, some of which could regulate neuroglial-specific gene expression.
Lidov
H G
HG
Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA. lidov@rascal.med.harvard.edu
Kunkel
L M
LM
D017398:Alternative Splicing; D001921:Brain / Q000378:metabolism*; D018076:DNA, Complementary; D016189:Dystrophin / Q000235:genetics*; D016678:Genome; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
C094406:140-kDa dystrophin; D018076:DNA, Complementary; D016189:Dystrophin