Haplogroup E (mtDNA)

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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.

[edit] 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).


    Human mitochondrial DNA (mtDNA) haplogroups

      mt-most recent common ancestor    
    L0   L1  
    L2 L3  
      M N  
    M1 CZ D E G Q   A I W X   R   N1 N2 Y
    C Z B F pre-JT P   U  
    JT K pre-HV
    J T HV
    H V