Human Molecular Genetics, Vol 6, 2195-2203, Copyright © 1997 by Oxford University Press
S Kameya, E Araki, M Katsuki, A Mizota, E Adachi, K Nakahara, I Nonaka, S Sakuragi, S Takeda and Y Nabeshima
Dp260 is a C-terminal isoform of dystrophin and is expressed specifically
in the retina. Abnormal electroretinograms (ERG) in some Duchenne muscular
dystrophy (DMD) and Becker muscular dystrophy (BMD) patients are likely
linked to a disruption of Dp260. To clarify the importance of Dp260 in the
retina, we examined dystrophin exon 52 knock- out mice, whose expression of
Dp260 is impaired. We also confirmed the localization of Dp260 in the outer
plexiform layer (OPL) of the retina. Disruption of Dp260 causes a change in
the localization of beta- dystroglycan, which is normally found in the OPL
of the retina. This suggests a requirement for Dp260 for normal formation
of the dystrophin- dystroglycan complex in the retina. Dp71, also expressed
in the retina, was, however, not detected in the OPL. The difference in
localization of Dp260 and Dp71 implies that the two isoforms have different
functions. The dystrophin exon 52 knock-out mice had a prolonged implicit
time of the b-wave in ERG, although no significant change was observed in
amplitude. These ERG findings differed from those of DMD and BMD patients,
especially with regard to amplitude of the b-wave, but make it clear that
Dp260 is required for normal electrophysiology.
ARTICLES
Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina
Department of Molecular Genetics, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187, Japan.
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