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10749 - 14129
Homo sapiens - Deletions

Deletion length: 3379 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


10749
5fl vs 3del
Homology length: 5 bp

Deleted region


14129
AGACTACGTACATAACCTAA 5'Breakpoint ACCTACTCCAATGCTAAAAC (...) CTTCTTCCCACTCATCCTAA 3'Breakpoint CCCTACTCCTAATCACATAA
5del vs 3del
Homology length: 1 bp

AGACTACGTACATAACCTAA 5'Breakpoint ACCTACTCCAATGCTAAAAC (...) CTTCTTCCCACTCATCCTAA 3'Breakpoint CCCTACTCCTAATCACATAA




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:
Aged tissues
Chronic diarrhea and villous atrophy

References

 [6] Bodyak, N.D., et al., Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Human Molecular Genetics. 2001. 10(1): p. 17-24.

 [135] Cormier-Daire, V., et al., Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. Journal of Pediatrics. 1994. 124(1): p. 63-70.

 [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.