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8643 - 16243
Homo sapiens - Deletions

Deletion length: 7599 bp

Does not remove any origin of replication
Inside the major arc



Breakpoint flanking sequences
more information in Documentation - Flanking regions


8643
5fl vs 3del
Homology length: 7 bp

Deleted region


16243
CCTCCAAATATCTCATCAAC 5'Breakpoint AACCGACTAATCACCACCCA (...) CTCAACTATCACACATCAAC 3'Breakpoint TGCAACTCCAAAGCCACCCC
5del vs 3del
Homology length: 3 bp

CCTCCAAATATCTCATCAAC 5'Breakpoint AACCGACTAATCACCACCCA (...) CTCAACTATCACACATCAAC 3'Breakpoint TGCAACTCCAAAGCCACCCC




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:
Spermatozoa
Trophoblast-like JAR cells (dioxin-TCDD induced)

References

 [27] Kao, S.H., H.T. Chao, and Y.H. Wei, Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Molecular Human Reproduction. 1998. 4(7): p. 657-66.

 [309] Chen, S-C., et al., Endocrine disruptor, dioxin (TCDD)-induced mitochondrial dysfiction and apoptosis in human trophoblast-like JAR cells. Molecular Human Reproduction. 2010. 16(5): p. 361-372.