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8587 - 15738
Homo sapiens - Deletions

Deletion length: 7150 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions
8587 Deleted region 15738
CCTAGGCCTACCCGCCGCAG 5'Breakpoint TACTGATCATTCTATTTCCC (...) TTATTGACTCCTAGCCGCAG 3'Breakpoint ACCTCCTCATTCTAACCTGA




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; Unfertilized oocytes
Hippocampal tissue of patients with mesial temporal lobe epilepsy (mTLE) and hippocampal sclerosis (HS)

References

 [21] Hsieh, R.H., et al., Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes. Fertility and Sterility. 2002. 77(5): p. 1012-7.

 [175] Pang, C.Y., et al., Human skin mitochondrial DNA deletions associated with light exposure. Archives of Biochemistry and Biophysics. 1994. 312(2): p. 534-8.

 [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.