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Haplogroup E (mtDNA)

In human mitochondrial genetics, Haplogroup E is a human mitochondrial DNA (mtDNA) haplogroup which can be used to define genetic populations. It is a subgroup of M.

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Haplogroup E has a southern Asia distribution. Until now it has been detected in the Malay peninsula populations and in the Sabah of Borneo; and it is also present in coastal Papua New Guinea as well as in Taiwan, in the Philippines, and in some Pacific islands such as Guam. "E" detected in a few Colombian indigenous populations, carries all the substitutions characteristic of haplogropup C and was identified as a back mutation. This revertant C lineage is further characterized by three changes in HVS-II sequence.

References

Ballinger, S.W., Schurr, T.G., Torroni, A., Gan, Y.Y., Hodge, J.A., Hassan, K., Chen, K.H., and Wallace, D.C. 1992. "Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations". Genetics 130: 139-152.
Herrnstadt, C., Elson, J.L., Fahy, E., Preston, G., Turnbull, D.M., Anderson, C., Ghosh, S.S., Olefsky, J.M., Beal, M.F., Davis, R.E., et al. 2002. "Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups". American Journal of Human Genetics 70: 1152-1171.
Ingman, M., Kaessmann, H., Pääbo, S., and Gyllensten, U. 2000. Mitochondrial genome variation and the origin of modern humans. Nature 408: 708-713.
Stoneking, M., Jorde, L.B., Bhatia, K., and Wilson, A.C. 1990. Geographic variation in human mitochondrial DNA from Papua New Guinea. Genetics 124: 717-733.
Torres, María Mercedes; Bravi, CM; Bortolini, MC; Duque, C; Callegari-Jacques, S; Ortiz, D; Bedoya, G; Groot de Restrepo H; y Ruiz-Linares A. 2006. "A revertant of the major founder Native American haplogroup C common in populations from northern South America". American Journal of Human Biology 18(1): 59-65.
Trejaut, Jean A; Toomas Kivisild; Jun Hun Loo; Chien Liang Lee; Chun Lin He; Chia Jung Hsu; Zheng Yuan Li; and Marie Lin. 2005. Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations Plos Biology 3 (8).