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Image Search Results
Journal: The Journal of Clinical Investigation
Article Title: Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
doi: 10.1172/JCI61976
Figure Lengend Snippet: LDM was used to collect epidermal keratinocytes from areas with altered or normal DEJ morphology. (A) Partial sequence of FERMT1 exon 4 in lymphocytes of P1 showed the duplicating insertion in adenine repeats c.456dupA (A7). The control had the adenine repeat sequence A6. (B) In affected skin sample P1-1, the mutation was found in a homozygous state. Analysis of DNA from microdissected areas (insets) of P1-3 from unaffected skin revealed the mutation in a heterozygous state (A6/7) in the majority of the experiments, but the wild-type sequence (A6) was also found. The sequence in the vicinity of the revertant mutation is shown below; bold denotes the GA6-A6G motif, underline denotes a DNA-polymerase β frameshift hotspot; red denotes the mutation. (C) Partial sequence of FERMT1 exon 5 in lymphocytes of P2 and a control showing the duplicating insertion in a cytosine tract (C8). (D) The homozygous duplication c.676dupC was disclosed in the affected skin P2-1, whereas analysis of DNA from microdissected areas (insets) in unaffected skin P2-2 disclosed the mutation in a heterozygous state (C7/8), or the normal sequence (C7). The sequence in the vicinity of the revertant mutation is shown below; bold denotes the AC6-C6A motif, underline denotes the vertebrate topoisomerase II consensus cleavage site; red denotes the mutation. Scale bars: 50 μm.
Article Snippet: DNA sequences were compared with the NCBI reference ( {"type":"entrez-nucleotide","attrs":{"text":"NC_000020.10","term_id":"224589812","term_text":"NC_000020.10"}} NC_000020.10 ) using
Techniques: Sequencing, Control, Mutagenesis