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12112 - 14422 Homo sapiens - Deletions Deletion length: 2309 bp Does not remove any origin of replication Inside the major arc |
Breakpoint flanking sequences more information in Documentation - Flanking regions |
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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. |
References
[26] Solano, A., et al., Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA. Journal of Medical Genetics. 2003. 40(7): p. e86.
[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.
[44] Tengan, C.H., et al., Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions. Biochimica Et Biophysica Acta. 2002. 1588(1): p. 65-70.
[45] Yamashita, S., et al., Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. Journal of Human Genetics. 2008. 53(7): p. 598-606.
[46] Hammans, S.R., et al., Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy. Journal of the Neurological Sciences. 1992. 107(1): p. 87-92.
[47] Hammans, S.R., et al., A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. Brain. 1992. 115 ( Pt 2): p. 343-65.
[48] Herzberg, N.H., et al., Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy. Neurology. 1993. 43(1): p. 218-21.
[322] Sadikovic, B., et al., Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. Plos one. 2010. 5(12): p. e15687.