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BioMicro Systems Inc
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Jackson Immuno
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Image Search Results
Journal: Molecular Genetics & Genomic Medicine
Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
doi: 10.1002/mgg3.108
Figure Lengend Snippet: Junction analysis for patient 2 (A) Tiled DMD array-CGH profile of patient 2. Genomic DNA from the patient was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the size of the chromosome X deletions flanking the inverted exon 50 of DMD . (B) The deletions flanking the inversion were 12.2 kb in intron 50 and 618 bp in intron 49, respectively. (C) Alignment of sequences at the junctions. Sequence data alignment for breakpoint junctions (microhomologies are boxed). Two base pairs microhomologies were found at each of the two breakpoint junctions; the reverse complement strand of intron 49 (1F, red) and the inverted complement strand of intron 50 (2F, blue) and the inverted complement strand of intron 49 (1R, red) and the reverse complement strand of intron 50 (2R, blue) are shown. (D) Complex rearrangement explained via the FoSTeS/MMBIR mechanism: (I) A DNA lesion is encountered in the first replication fork (red, solid line) of intron 49; the lagging strand (red, dotted line) disengages and invades the leading strand (blue, dotted line) in the first replication fork (dark blue, solid line) of intron 50 thus facilitating resumption of replication. (2) Simultaneously, another DNA lesion is encountered in a second replication fork (red, solid line) on intron 49 downstream of the initial fork. The leading strand (orange, dotted line) disengages and invades the lagging strand (dark blue, dotted line) of a second replication fork (light blue, solid line) on intron 50 downstream of that original fork. Dotted lines represent newly synthesized DNA. (3) Resumption of replication on the original template occurs.
Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using
Techniques: Sequencing, Synthesized
Journal: Molecular Genetics & Genomic Medicine
Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
doi: 10.1002/mgg3.108
Figure Lengend Snippet: Microarray analysis for patient 3 A) Tiled DMD array-CGH profile of patient 3 and her parents. Genomic DNA from patient 3 and her parents were hybridized to a CytoSure 4 × 44k DMD tiling array to determine the carrier status in the parents and to confirm the duplication breakpoint junctions in patient 3 on DMD . No deletion/duplication was identified in the father, a deletion of exon 47 was revealed in the mother and an apparent duplication, deletion, duplication was seen in the proband. B) Schematic overview of the DMD rearrangements in the patient with a deletion of exon 47 on the maternal allele and a de novo non-contiguous duplication ( MID1 , upstream of DMD and exons 45–49 of DMD ) on the paternal allele. Red lines indicate duplications and green lines indicate deletion.
Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using
Techniques: Microarray
Journal: Molecular Genetics & Genomic Medicine
Article Title: Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
doi: 10.1002/mgg3.108
Figure Lengend Snippet: Microarray analysis for patients 4 and 5. Genomic DNA from patients was hybridized to a CytoSure 4 × 44k DMD tiling array to determine the duplication breakpoint junctions on chromosome X of DMD . (A) Patient 4: High-density arrays show two duplication segments of the dystophin gene; exons 45–51 and 60–67. The second duplication segment was interrupted with a small region of no copy number changes in intron 62. (C) Patient 5: Two non-contiguous duplications in DMD were seen: exon 1 and exons 11–12. (B and D). Schematic overview of the suggested FoSTeS/MMBIR mechanism creating the noncontiguous duplication in DMD in patients 4 and 5. The numbers indicate where template switching would have occurred and the arrows indicate the direction. Red lines indicate duplications.
Article Snippet: The slides were scanned on an Agilent High-Resolution C Scanner (Agilent, Santa Clara, CA) and analyzed using
Techniques: Microarray