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7982 - 15504
Homo sapiens - Deletions

Deletion length: 7521 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


7982
5fl vs 3del
Homology length: 8 bp

Deleted region


15504
ATTCCTAGAACCAGGCGACC 5'Breakpoint TGCGACTCCTTGACGTTGAC (...) ACCAGACCTCCTAGGCGACC 3'Breakpoint CAGACAATTATACCCTAGCC
5fl vs 3fl
Homology length: 1 bp

ATTCCTAGAACCAGGCGACC 5'Breakpoint TGCGACTCCTTGACGTTGAC (...) ACCAGACCTCCTAGGCGACC 3'Breakpoint CAGACAATTATACCCTAGCC




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:
KSS; PEO
Mitochondrial myopathy
MELAS; Ptosis; Proximal limb weakness; Chronic fatigue syndrome; Ataxia; Seizures; other neurological symptoms; Hippocampal tissue of patients with mesial temporal lobe epilepsy (mTLE) and hippocampal sclerosis (HS)

References

 [15] Regan, C., Sequence characterization of breakpoint regions of human mitochondrial DNA deletions and possible mechanisms of formation. PhD Thesis. 1999.

 [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.

 [42] Nakase, H., et al., Transcription and Translation of Deleted Mitochondrial Genomes in Kearns-Sayre Syndrome - Implications for Pathogenesis. American Journal of Human Genetics. 1990. 46(3): p. 418-427.

 [43] Zupanc, M.L., et al., Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Annals of Neurology. 1991. 29(6): p. 680-3.

 [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.

 [326] Hjelm, B.E., et al., . in preparation

 [330] Volmering, E., et al., Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathologica. 2016. 132(2): p. 277-288.