caa a22 4500 397573618 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.489 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.489 Cloning and Characterization of the Human Homologue of a Dystrophin Related Phosphoprotein Found at the Torpedo Electric Organ Post-Synaptic Membrane [Elektronische Daten] [Hélène M. Sadoulet-Puccio, Tejvir S. Khurana, Jonathan B. Cohen, Louis M. Kunkel] Dystrophin is the protein product which is absent in Duchenne muscular dystrophy (DMD). In mammalian skeletal muscle, dystrophin is found in association with several integral and peripheral membrane proteins, forming a complex known as the dystrophin glycoprotein complex (DGC). In an expressed sequence tag (EST) database search to identify new dystrophin related genes, we isolated EST00891 which showed 57% homology to the cysteine-rich domain of dystrophin and localized to 18q12.1-12.2. This EST is also highly homologous (90%) to the Torpedo californica post-synaptic 87 kDa phosphoprotein. Screening human adult brain and skeletal muscle cDNA libraries with this EST resulted in cloning multiple cDNAs which encode several splice forms all homologous to the C-terminal domain of dystrophin. The largest open reading frame isolated shows 94% homology (86% identity) to the Torpedo 87 kDa protein and 50% homology to the cysteine-rich and carboxy-terminal domains of dystrophin. The other cDNAs isolated encode smaller splice forms of this gene which we have named dystrobrevin. The tissue distribution of dystrobrevin mRNA shows five distinct transcripts which are preferentially expressed between different tissues. In addition, antibodies against either the Torpedo 87 kDa protein or human dystrobrevin demonstrate that at least three of the splice forms are translated as proteins in human brain tissue extracts. © 1996 Oxford University Press Sadoulet-Puccio Hélène M. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA aut Khurana Tejvir S. Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA aut Cohen Jonathan B. Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA aut Kunkel Louis M. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 489-496 0964-6906 5:4<489 1996 5 hmg https://doi.org/10.1093/hmg/5.4.489 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.489 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sadoulet-Puccio Hélène M. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Khurana Tejvir S. Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Cohen Jonathan B. Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 700 1- Kunkel Louis M. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 489-496 0964-6906 5:4<489 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford