Journal: Molecular Therapy. Methods & Clinical Development

Article Title: Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes

doi: 10.1016/j.omtm.2016.12.001

Figure Lengend Snippet: PCR Amplification across the 5.6-Mb Deletion in the GSHPMD Model (A) Schematic showing primers that are spaced over 5.6 Mb apart in wild-type dog. PCR products generated from this primer pair using DNA from two affected males, two carrier females, and one wild-type male are displayed on an agarose gel following electrophoresis. A positive control using an unrelated primer pair is provided in the rightmost lane for the wild-type dog. (B) Pustell DNA matrix comparing the sequenced deletion-spanning amplicon from a GSHPMD male to the indicated region of wild-type dog X chromosome. Black lines indicate homology between the compared sequences. (C) Macroscale DNA sequence comparison of the telomeric and centromeric deletion breakpoints. Shaded region indicates >96% homology between the deletion breakpoints. X MT /Y, affected male; X MT /X WT , carrier female; X WT /Y, wild-type male; TBP, telomeric breakpoint; CBP, centromeric breakpoint; WT, wild-type.

Article Snippet: Pustell DNA matrices, ClustalW alignments, and phylogenies were created in MacVector.

Techniques: Amplification, Generated, Agarose Gel Electrophoresis, Electrophoresis, Positive Control, Sequencing, Comparison

Journal: Molecular Therapy. Methods & Clinical Development

Article Title: Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes

doi: 10.1016/j.omtm.2016.12.001

Figure Lengend Snippet: Identification of Homologous DNA Segments on Dog X Chromosome as Members of the Ferritin-like Superfamily (A) Pustell DNA matrix comparing both orientations of the sequenced deletion-spanning amplicon from a GSHPMD male to the indicated region of wild-type dog X chromosome from the dog reference genome. Strand homology is provided in the subsequent table. (B) Regions of homology identified in Pustell matrix and corresponding gene annotations for these regions of the dog genome from NCBI. Loci are grouped and labeled based on chromosomal location. (C) Schematic of identified ferritin-like genes and pseudogenes. Arrows indicate the location of the genes and pseudogenes in the Pustell matrix. Area of shared homology is shown with a gray bar above each respective locus. *Gene inferred from mammalian FTHL17 ortholog.

Article Snippet: Pustell DNA matrices, ClustalW alignments, and phylogenies were created in MacVector.

Techniques: Amplification, Labeling