Human Molecular Genetics, Vol 8, 493-500, Copyright © 1999 by Oxford University Press
A Surono, Y Takeshima, T Wibawa, M Ikezawa, I Nonaka and M Matsuo
Exon skipping by alternative splicing and circular RNA formation are
proposed to be interrelated events. Since multiple patterns of alternative
splicing have been demonstrated in both the 5' and 3' regions of the
dystrophin gene, the dystrophin transcript in skeletal muscle cells
provides a model system in which this idea is tested. Nine circular RNAs
that were expected to result from known exon skipping patterns in the 5'
region of this gene were in fact identified, but three other circular RNAs
expected to result from other known exon skipping reactions in this region
could not be detected. The identification of two unexpected circular RNAs
led to the discovery of two novel alternative splicing reactions. One
circular RNA originating in the 3' region of the gene was identified but it
lacked one small sized exon compared with the expected exon structure.
Circular RNAs from the 5' region of the dystrophin gene could not be
detected in Duchenne muscular dystrophy patients who have deletions of one
or more exons in this segment of the gene, even though alternative splicing
products were identified. These results showed that circular RNA formation
is not necessarily linked to exon skipping and suggest that an undetermined
factor regulates circular RNA formation.
ARTICLES
Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
Division of Genetics, International Center for Medical Research and Department of Pediatrics, Kobe University School of Medicine, 7-5-1, Kusunokicho, Chuo, Kobe 650-0017, Japan.
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