{"database":"biostudies-other","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["89(12)"],"submitter":["Lederfein D"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["5346-50"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC49288"],"abstract":["The known Duchenne muscular dystrophy (DMD) gene products, the muscle- and brain-type dystrophin isoforms, are 427-kDa proteins translated from 14-kilobase (kb) mRNAs. Recently we described a 6.5-kb mRNA that also is transcribed from the DMD gene. Cloning and in vitro transcription and translation of the entire coding region show that the 6.5-kb mRNA encodes a 70.8-kDa protein that is a major product of the DMD gene. It contains the C-terminal and the cysteine-rich domains of dystrophin, seven additional amino acids at the N terminus, and some modifications formed by alternative splicing in the C-terminal domain. It lacks the entire large domain of spectrin-like repeats and the actin-binding N-terminal domain of dystrophin. This protein is the major DMD gene product in brain and other nonmuscle tissues but is undetectable in skeletal muscle extracts."],"repository":["biostudies-other"],"pmcid":["PMC49288"],"data_source":["Europe PMC"],"pubmed_authors":["Levy Z","Fuchs O","Nudel U","Mornet D","Lederfein D","Yaffe D","Morris G","Augier N"],"additional_accession":[]},"is_claimable":false,"name":"A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.","description":"The known Duchenne muscular dystrophy (DMD) gene products, the muscle- and brain-type dystrophin isoforms, are 427-kDa proteins translated from 14-kilobase (kb) mRNAs. Recently we described a 6.5-kb mRNA that also is transcribed from the DMD gene. Cloning and in vitro transcription and translation of the entire coding region show that the 6.5-kb mRNA encodes a 70.8-kDa protein that is a major product of the DMD gene. It contains the C-terminal and the cysteine-rich domains of dystrophin, seven additional amino acids at the N terminus, and some modifications formed by alternative splicing in the C-terminal domain. It lacks the entire large domain of spectrin-like repeats and the actin-binding N-terminal domain of dystrophin. This protein is the major DMD gene product in brain and other nonmuscle tissues but is undetectable in skeletal muscle extracts.","dates":{"release":"1992-01-01T00:00:00Z","publication":"1992 Jun","modification":"2019-03-27T00:18:09Z","creation":"2019-03-27T00:18:09Z"},"accession":"S-EPMC49288","cross_references":{"gen":["M92650"],"pubmed":["1319059"],"doi":["10.1073/pnas.89.12.5346 "]}}