Abstract:
:A transcript generated by the distal part of the Duchenne Muscular Dystrophy (DMD) gene was initially detected in cells where the full size 14-kilobase (kb) messenger RNA is not found at a significant level. This transcript, approximately 4.5 kb long, corresponds to the cysteine-rich and carboxyl-terminal domains of dystrophin. It begins with a novel 80- to 100-nucleotide exon containing an ATG start site for a new coding sequence of 17 nucleotides in-frame with the consecutive dystrophin cDNA sequence from exon 63. This result suggests the existence of a third promoter that would be localized about 8 kilobases upstream from exon 63 of the DMD gene. The distal transcript is widely distributed but is absent in adult skeletal and myometrial muscle. It is much more abundant in fetal tissues. With an antibody directed against the dystrophin carboxyl terminus, the protein corresponding to this transcript was detected as a 70- to 75-kDa entity on Western blots. It was found in all tissues analyzed except in skeletal muscle. It was not found in lymphoblastoid cells from a Duchenne patient with a complete deletion of the dystrophin gene. The role and subcellular localization of this protein is not known. It may explain extramuscular symptoms exhibited by some Duchenne patients.
journal_name
Proc Natl Acad Sci U S Aauthors
Hugnot JP,Gilgenkrantz H,Vincent N,Chafey P,Morris GE,Monaco AP,Berwald-Netter Y,Koulakoff A,Kaplan JC,Kahn Adoi
10.1073/pnas.89.16.7506keywords:
subject
Has Abstract,Author List Incompletepub_date
1992-08-15 00:00:00pages
7506-10issue
16eissn
0027-8424issn
1091-6490journal_volume
89pub_type
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