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8033 - 16071
Homo sapiens - Deletions

Deletion length: 8037 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8033
5fl vs 3del
Homology length: 2 bp

Deleted region


16071
ACTCCCGATTGAAGCCCCCA 5'Breakpoint TTCGTATAATAATTACATCA (...) ACCACCCAAGTATTGACTCA 3'Breakpoint CCCATCAACAACCGCTATGT
5fl vs 3fl
Homology length: 4 bp

ACTCCCGATTGAAGCCCCCA 5'Breakpoint TTCGTATAATAATTACATCA (...) ACCACCCAAGTATTGACTCA 3'Breakpoint CCCATCAACAACCGCTATGT




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:
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Aged tissues; Sublimons
Inclusion body myositis

References

 [23] Kajander, O.A., et al., Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states. Human Molecular Genetics. 2000. 9(19): p. 2821-35.

 [24] Moslemi, A.R., C. Lindberg, and A. Oldfors, Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Human Mutation. 1997. 10(5): p. 381-6.

 [25] Samuels, D.C., E.A. Schon, and P.F. Chinnery, Two direct repeats cause most human mtDNA deletions. Trends in Genetics. 2004. 20(9): p. 393-8.

 [176] Moslemi, A.R., et al., Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Annals of Neurology. 1996. 40(5): p. 707-713.