Haplogroup E (mtDNA)

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.

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. [http://biology.plosjournals.org/perlserv?request=get-document&doi=10.1371/journal.pbio.0030247 Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations] "Plos Biology" 3 (8).


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