Loading, please wait...

Loading, please wait.



10951 - 15372
Homo sapiens - Deletions

Deletion length: 4420 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


10951
5fl vs 3del
Homology length: 10 bp

Deleted region


15372
CCGACCCCCTAACAACCCCC 5'Breakpoint CTCCTAATACTAACTACCTG (...) AACGGGATCAAACAACCCCC 3'Breakpoint TAGGAATCACCTCCCATTCC
5del vs 3del
Homology length: 1 bp

CCGACCCCCTAACAACCCCC 5'Breakpoint CTCCTAATACTAACTACCTG (...) AACGGGATCAAACAACCCCC 3'Breakpoint TAGGAATCACCTCCCATTCC




Two-dimensional scatterplot showing the location of the selected deletion (red diamond) versus the full dataset (grey dots). Each point represents an mtDNA rearrangement with the 5’ breakpoint on the x-axis and the 3’ breakpoint on the y-axis.

Circular mtDNA plot specifying the location of the deleted region (black bar).
Length distribution of the deleted region in the selected deletion (red bar) versus the full dataset (grey bars) .The cases were grouped 100-nt windows.
Present in:
PEO; KSS
Skeletal muscle biopsies and fibroblasts of Charcot-Marie-Tooth hereditary neuropathy type 2A patients

References

 [18] Ferlin, T., et al., Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction. Molecular and Cellular Biochemistry. 1997. 174(1-2): p. 221-225.

 [26] Solano, A., et al., Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA. Journal of Medical Genetics. 2003. 40(7): p. e86.

 [40] Mita, S., et al., Recombination Via Flanking Direct Repeats Is a Major Cause of Large-Scale Deletions of Human Mitochondrial-DNA. Nucleic Acids Research. 1990. 18(3): p. 561-567.

 [44] Tengan, C.H., et al., Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochimica Et Biophysica Acta. 2002. 1588(1): p. 65-70.

 [265] Rocher, C., et al., Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. Molecular Genetics and Metabolism. 2002. 76(2): p. 123-32.

 [329] Vielhaber, Stefan, et al., Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathologica. 2013. 125(2): p. 245-256.