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Promising therapeutic approaches using CRISPR/Cas9 genome editing technology in the treatment of Duchenne muscular dystrophy

Mollanoori, Hasan, Rahmati, Yazdan, Hassani, Bita, Havasi Mehr, Meysam, Teimourian, Shahram·2021·Genes & Diseases
DOI 10.1016/j.gendis.2019.12.007PMC PMC8099695
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Figure 1 Schematic mechanism of CRISPR/cas9 in genomic editing. Cas9 nuclease guided by a gRNA to a target DNA site adjacent to PAM. The Cas9-gRNA complex generates a double-strand break, which is repaired by non-homologous end joining or homology-directed repair.
Figure 1 Schematic mechanism of CRISPR/cas9 in genomic editing. Cas9 nuclease guided by a gRNA to a target DNA site adjacent to PAM. The Cas9-gRNA complex generates a double-strand break, which is repaired by non-homologous end joining or homology-directed repair.CC BY-NC-ND · PubMed Central
Figure 2 (A) On the top; schematic outline of the dystrophin gene, located in Xp21. The black vertical lines represent the 79 exons of the dystrophin gene. The arrows indicate different promoters used in different tissues. In the middle; the 14-kb dystrophin cDNA, the numbers in the cDNA refers to exon number. In the bottom; full-length dystrophin contains an actin binding domain 1 (ABD1), 24 spectrin-like repeats (R1 to R24), four hinges (H1 toH4), a cysteine-rich domain (CR), and a C-terminal domain (CT). (B) The consequence of various types of DMD mutations on dystrophin expression and the subsequent phenotype. ABD1, actin-binding domain 1; CR, cysteine-rich domain; CT, C-terminal domain; NT, N-terminal domain; UTR, untranslated region.
Figure 2 (A) On the top; schematic outline of the dystrophin gene, located in Xp21. The black vertical lines represent the 79 exons of the dystrophin gene. The arrows indicate different promoters used in different tissues. In the middle; the 14-kb dystrophin cDNA, the numbers in the cDNA refers to exon number. In the bottom; full-length dystrophin contains an actin binding domain 1 (ABD1), 24 spectrin-like repeats (R1 to R24), four hinges (H1 toH4), a cysteine-rich domain (CR), and a C-terminal domain (CT). (B) The consequence of various types of DMD mutations on dystrophin expression and the subsequent phenotype. ABD1, actin-binding domain 1; CR, cysteine-rich domain; CT, C-terminal domain; NT, N-terminal domain; UTR, untranslated region.CC BY-NC-ND · PubMed Central
Figure 3 A schematic view of DMD gene correction by CRISPR/Cas9. (A) Precise correction of DMD gene mediated by HDR approach in a hypothetical patient with a point mutation in exon 23 (marked by an X) that creates a premature stop codon. (B) On the top; Direct and Classical exon skipping mediated by NHEJ approach in a hypothetical patient with a point mutation in exon 48 (marked by an X) that creates a premature stop codon. In the bottom; reframing an out of frame mutation in a hypothetical patient with a point mutation in exon 48 mediated by NHEJ and reframing of a duplication mutation in a hypothetical patient with duplication of exon 18 to 30 (duplicated exons mark with green). Boxes represent exons; lines between boxes represent introns.
Figure 3 A schematic view of DMD gene correction by CRISPR/Cas9. (A) Precise correction of DMD gene mediated by HDR approach in a hypothetical patient with a point mutation in exon 23 (marked by an X) that creates a premature stop codon. (B) On the top; Direct and Classical exon skipping mediated by NHEJ approach in a hypothetical patient with a point mutation in exon 48 (marked by an X) that creates a premature stop codon. In the bottom; reframing an out of frame mutation in a hypothetical patient with a point mutation in exon 48 mediated by NHEJ and reframing of a duplication mutation in a hypothetical patient with duplication of exon 18 to 30 (duplicated exons mark with green). Boxes represent exons; lines between boxes represent introns.CC BY-NC-ND · PubMed Central

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Metadata

Authors
Mollanoori, H., Rahmati, Y., Hassani, B., Havasi Mehr, M., & Teimourian, S.
ORCID
Teimourian, Shahram
Venue
Genes & Diseases
Publisher
Elsevier BV
Published
2021-03
Volume
8
Issue
2
Pages
146-156
ISSN
2352-3042
DOI
10.1016/j.gendis.2019.12.007
PMC
PMC8099695
Cited by
32
References
4
Language
en
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