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As demonstrated in this Table of Coding Region Mutations adapted from Hernstadt et al (1), Haplogroup A has 12 coding region mutations in common with Haplogroup C, 11 with Haplogroup B, 11 with X and 9 with Haplogroup D. Despite many shared polymorphisms, Haplogroup C and D are members of Haplogroup M and have very distinct coding region polymorphisms not found in A. Haplogroup X appears to be very similar to A. In addition to the above polymorphisms, all have the mutation 16223T in common since Super haplogroups M and N are branches off of "Out of Africa" Haplogroup L3 whose defining motif is 223 (16223T). Haplogroup C bears the C16223T mutation since it is also the polymorphism used to classify all groups in Super Haplogroup M. However, it does not share the +10871MnlI coding region mutation common to A and X. Rather, it has three others: +10397 AluI, -13259 HincII and +13262 AluI. Haplogroup B, a sub group of Haplogroup R, is unlike the other four founder groups in that it has the definitive 9 bp del COII-tRNALys. The complete table of polymorphisms associated with more than one haplogroup is found in Herrnstadt’s Table 2 relating to the Reduced Median Analysis of Coding Region Sequences for the major mitochondrial DNA haplogroups. : 1 Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups. Am J Hum Genet. 2002 May; 70(5): 1152-1171.
To view the table of the Polymporphisms common to A, B, C, D and X, click here
Recent article on PLoS One on Native American Founders and Beringian relationships contains especially pertinent information of interest for our project participants. There is an excellent, "Schematic representation of phylogeny of human mtDNA outside of Africa. Branches encompassing Native Americans and their immediate Asian ancestral and sister lineages, represented by complete sequences, are shown in black with coalescence ages indicated and geographic location identified by colours. Lineages in brown correspond to the main haplogroups, found in Eurasia and Oceania, but absent in Native Americans. For complete phylogenetic tree"... View the slideshow by clicking HERE: Native American Founders Phylogenetic Diagram Theory
: Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, et al. (2007) Beringian Standstill and Spread of Native American Founders. PLoS ONE 2(9): e829. doi:10.1371/journal.pone.0000829.
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