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8280 - 8290
Homo sapiens - Deletions

Deletion length: 9 bp

Does not remove any origin of replication
Inside the major arc

Breakpoint flanking sequences
more information in Documentation - Flanking regions

5fl vs 3del
Homology length: 10 bp

Deleted region

5del vs 3del
Homology length: 9 bp


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:
Normal tissues (polymorphism)
Adrenal failure; Sensineural hearing loss and migraine; SNHL


 [53] Kolman, C.J., et al., Reduced mtDNA diversity in the Ngobe Amerinds of Panama. Genetics. 1995. 140(1): p. 275-83.

 [61] Abe, S., et al., Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. European Journal of Human Genetics. 1998. 6(6): p. 563-9.

 [62] Ballinger, S.W., et al., Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics. 1992. 130(1): p. 139-52.

 [63] Barrientos, A., et al., The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics. 1995. 96(2): p. 225-8.

 [64] Cann, R.L. and A.C. Wilson, Lenght mutations in human mitochondrial DNA. Genetics. 1983. 104(4): p. 699-711.

 [65] Chen, Y.S., et al., Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. American Journal of Human Genetics. 1995. 57(1): p. 133-49.

 [66] De Benedictis, G. and G. Passarino, Encyclopedia of Life Sciences, in Mitochondrial DNA polymorphisms. 2005.

 [67] Derenko, M.V., et al., Mitochondrial DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia. Human Biology. 2000. 72(6): p. 945-73.

 [68] Dipierri, J.E., et al., Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina. Human Biology. 1998. 70(6): p. 1001-10.

 [69] Finnila, S., et al., Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln. Journal of Medical Genetics. 2001. 38(6): p. 400-5.

 [70] Gonzalez, A.M., et al., Mitochondrial lineage M1 traces an early human backflow to Africa. BMC Genomics. 2007. 8: p. 223.

 [71] Harihara, S., et al., Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations. Human Biology. 1992. 64(2): p. 161-6.

 [72] Herrnstadt, C., et al., Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. American Journal of Human Genetics. 2002. 70(5): p. 1152-71.

 [73] Hertzberg, M., et al., An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. American Journal of Human Genetics. 1989. 44(4): p. 504-10.

 [74] Hill, C., et al., A mitochondrial stratigraphy for island southeast Asia. American Journal of Human Genetics. 2007. 80(1): p. 29-43.

 [75] Horai, S., et al., mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan. American Journal of Human Genetics. 1996. 59(3): p. 579-90.

 [76] Ito, M., et al., Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease. Mitochondrion. 2001. 1(3): p. 269-78.

 [77] Lehtonen, M.S., J.S. Moilanen, and K. Majamaa, Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Human Genetics. 2003. 113(3): p. 220-7.

 [78] Li, R., et al., The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene. 2006. 376(1): p. 79-86.

 [79] Lorenz, J.G. and D.G. Smith, Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians. Human Biology. 1994. 66(5): p. 777-88.

 [80] Melton, T., et al., Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis. American Journal of Human Genetics. 1995. 57(2): p. 403-14.

 [81] Monsalve, M.V., et al., Evidence of mitochondrial DNA diversity in South American aboriginals. Annals of Human Genetics. 1994. 58(Pt 3): p. 265-73.

 [82] Passarino, G., et al., COII/tRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities. American Journal of Human Genetics. 1993. 53(3): p. 609-18.

 [83] Qu, J., et al., Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation. Biochemical and Biophysical Research Communications. 2005. 328(4): p. 1139-45.

 [84] Redd, A.J., et al., Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Molecular Biology and Evolution. 1995. 12(4): p. 604-15.

 [85] Ricaut, F.X., et al., Mitochondrial DNA variation in Karkar Islanders. Annals of Human Genetics. 2008. 72(Pt 3): p. 349-67.

 [86] Ruppert, V., et al., Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome. Biochemical and Biophysical Research Communications. 2004. 318(2): p. 535-43.

 [87] Schurr, T.G., et al., Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. American Journal of Human Genetics. 1990. 46(3): p. 613-23.

 [88] Shields, G.F., et al., Absence of the Asian-specific region V mitochondrial marker in Native Beringians. American Journal of Human Genetics. 1992. 50(4): p. 758-65.

 [89] Soodyall, H., et al., mtDNA control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans. American Journal of Human Genetics. 1996. 58(3): p. 595-608.

 [90] Starikovskaya, E.B., et al., Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Annals of Human Genetics. 2005. 69(Pt 1): p. 67-89.

 [91] Sternberg, D., et al., Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Human Molecular Genetics. 1998. 7(1): p. 33-42.

 [92] Thangaraj, K., et al., Maternal footprints of Southeast Asians in North India. Human Heredity. 2008. 66(1): p. 1-9.

 [93] Thangaraj, K., et al., Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations. Human Genetics. 2005. 116(6): p. 507-17.

 [94] Thomas, M.G., et al., Molecular instability in the COII-tRNA(Lys) intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats. Philosophical Transactions of the Royal Society of London B: Biological Sciences. 1998. 353(1371): p. 955-65.

 [95] Torroni, A., et al., mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico. American Journal of Human Genetics. 1994. 54(2): p. 303-18.

 [96] Torroni, A., et al., Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. American Journal of Physical Anthropology. 1994. 93(2): p. 189-99.

 [97] Torroni, A., et al., About the "Asian"-specific 9-bp deletion of mtDNA. American Journal of Human Genetics. 1995. 57(2): p. 507-8.

 [98] Torroni, A., et al., Asian affinities and continental radiation of the four founding Native American mtDNAs. American Journal of Human Genetics. 1993. 53(3): p. 563-90.

 [99] Torroni, A., et al., Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics. 1992. 130(1): p. 153-62.

 [100] Torroni, A., et al., mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. American Journal of Human Genetics. 1993. 53(3): p. 591-608.

 [101] Torroni, A. and D.C. Wallace, MtDNA haplogroups in Native Americans. American Journal of Human Genetics. 1995. 56(5): p. 1234-8.

 [102] Umetsu, K., et al., Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations. Electrophoresis. 2001. 22(16): p. 3533-8.

 [103] Wallace, D.C. and A. Torroni, American Indian prehistory as written in the mitochondrial DNA: a review. Human Biology. 1992. 64(3): p. 403-16.

 [104] Wang, X., et al., Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics. 2008. 18(12): p. 1059-70.

 [105] Wrischnik, L.A., et al., Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Research. 1987. 15(2): p. 529-42.

 [106] Young, W.Y., et al., Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochemical and Biophysical Research Communications. 2005. 328(4): p. 1244-51.