ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Analysis of phenotype expressions of deletions in the dystrophin gene in terms of efficiency of exon skipping as a method for treatment of hereditary dystrophinopathies
About authors
1 Marlin Biotech, Moscow, Russia
2 Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia
3 Department of Neurology, Neurosurgery and Medical Genetics, Medical Faculty,
Pirogov Russian National Research Medical University, Moscow, Russia
Correspondence should be addressed: Evgeniya Zotova
ul. Vavilova, d.34/5, Moscow, Russia, 119334; ur.usm.bbf@avotoz
About paper
Acknowledgements: authors thank the Shared Resource Center of the Institute of Gene Biology of Russian Academy of Sciences for the equipment provided for this research.
Received: 2016-06-17
Accepted: 2016-06-24
Published online: 2017-01-05
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Fig. 1. Exon structure of the dystrophin gene
Green blocks indicate exons; exon size (in base pairs) is indicated in the bottom right and its sequence number in the middle. Three types of joints (straight, concave and convex) indicate the three reading frames within which exon boundaries fall. Arrows indicate the gene region borders encoding the structural domains of dystrophin: CH1 and CH2 — elements of the N-terminal actin-binding domain, R1–R24 and H1–H4 — spectrin repeats and hinges of the central rod domain, respectively, WW, ZZ, EFH1 and EFH2 — structural elements of the cysteine-rich domain, and C term – a C-terminal domain unique for dystrophin and its homologues (Nicolas et al., 2012 [29]).
Fig. 2. Distribution of phenotypic manifestations of deletions in the dystrophin gene in exon skipping to restore the reading frame (based on LOVD data)
The vertical axis indicates the numbers of exons that were included in the deletion, while the horizontal axis is the number of records containing data on a particular deletion, which are contained in the LOVD database. Sections of horizontal bars correspond to representation of individual phenotypes.
