The antiquity of M Mt DNA macrohaplogroup

Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages
Revathi Rajkumar,1 Jheelam Banerjee,1 Hima Bindu Gunturi,1 R Trivedi,1 and VK Kashyap1. Pub 2005

Background
Analysis of human complete mitochondrial DNA sequences has largely contributed to resolve phylogenies and antiquity of different lineages belonging to the majorhaplogroups L, N and M (East-Asian lineages). In the absence of whole mtDNA sequence information of M lineages reported in India that exhibits highest diversity within the sub-continent, the present study was undertaken to provide a detailed analysis of this macrohaplogroup to precisely characterize and unravel the intricate phylogeny of the lineages and to establish the antiquity of M lineages in India.
Results
The phylogenetic tree constructed from sequencing information of twenty-four whole mtDNA genome revealed novel substitutions in the previously defined M2a and M6 lineages. The most striking feature of this phylogenetic tree is the recognition of two new lineages, M30 and M31, distinguished by transitions at 12007 and 5319, respectively. M30 comprises of M18 and identifies a potential new sub-lineage possessing substitution at 16223 and 16300. It further branches into M30a sub-lineage, defined by 15431 and 195A substitution. The age of M30 lineage was estimated at 33,042 YBP, indicating a more recent expansion time than M2 (49,686 YBP). The M31 branch encompasses the M6 lineage along with the previously defined M3 and M4 lineages. Contradictory to earlier reports, the M5 lineage does not always include a 12477 substitution, and is more appropriately defined by a transversion at 10986A. The phylogenetic tree also identifies a potential new lineage in the M* branch with HVSI sequence as 16223,16325. Substitutions in M25 were in concordance with previous reports.
Conclusion
This study describes five new basal mutations and recognizes two new lineages, M30 and M31 that substantially contribute to the present understanding of macrohaplogroup M. These two newly erected lineages include the previously independent lineages M18 and M6 as sub-lineages within them, respectively, suggesting that most mt DNA genomes might arise as limited offshoots of M trunk. Furthermore, this study supports the non existence of lineages such as M3 and M4 that are solely defined on the basis of fast mutating control region motifs and hence, establishes the importance of coding region markers for an accurate understanding of the phylogeny. The deep roots of M phylogeny clearly establish the antiquity of Indian lineages, especially M2, as compared to Ethiopian M1 lineage and hence, support an Asian origin of M major haplogroup.

They are going to have to redraw some of those migration pattern maps for the Mt DNA.

It seems that L3 was the OOA lineage, and both N and M arose in West Asia, about 63,500 and 65,000 years ago (although, personally I suspect the dates are a closer to the older edge of the possible range than the average, and are more like 80,000 years old for haplogroup M). This is the second study I’ve seen that places M as an Asian mutation.  I am uncertain as to the Gate of Tears (Red sea) as the exit route. I think the Nile still has a lot going for it as an exit point.

6 responses to “The antiquity of M Mt DNA macrohaplogroup

  1. Cannot but see a contradiction between what the paper says:

    The deep roots of M phylogeny clearly establish the antiquity of Indian lineages, especially M2, as compared to Ethiopian M1 lineage and hence, support an Asian origin of M major haplogroup.

    … and your conclusion:

    It seems that L3 was the OOA lineage, and both N and M arose in West Asia…

    Notice that while M1 is branded here as “Ethiopian” it is also a relatively common West Eurasian clade (specially West Asian) and it’s generally believed to have migrated to East Africa from West Asia.

    In fact M1 is the only M clade that can be described as West Eurasian. All the others originated further East with the overall root probably in South Asia (and not West Asia)

    Admittedly the situation is less clear for N but its main subclade R also appears to be rooted in South Asia.

  2. There’s another publication that names M1 as Asian. I’ve got it around somewhere…
    https://mathildasanthropologyblog.wordpress.com/2008/07/30/the-asian-origin-of-mtdna-haplotype-m/

    You are right though, I should have probably have put India as the location for M.

  3. “I am uncertain as to the Gate of Tears (Red sea) as the exit route. I think the Nile still has a lot going for it as an exit point”.

    To some extent it’s irrelevant which route humans took out of Africa (perhaps both anyway). It seems from some other evidence discovered recently that they came out during moister times, in which case they would have moved across a vegetated Arabian peninsular till they reached the Zagros. Anyway a route simply along the coast is most unlikely.

    By the way. Recent partial resolution of the L mtDNA haplogroups shows lines M and N are part of the unresolved L3 clade. Therefore the two are likely to have sprung from L4 lines that came out of Africa. This places their origin possibly even more anciently than what you suggest. This fits it snuggly with the moister climate period.

    I’ll refrain from going in the direction of M and her daughter clade R at this stage. Maju and I go back a long way on that one.

  4. I’d noticed on Dienekes: Maju does love a good argument!

    BTW, do you have a source for the L4 info?

    Not that I trust any DNA date estimates.

  5. Actually I made a mistake there. Lines M and N do share the basal mutations of L3 so technically are part of the L3 clade but should just be called L3k and L3l or something similar. What I was trying to get at was they must have come out pretty much as soon as L began diversifying, 80,000 years ago according to the diagram I have. Hope this works:

    You can link to it through anthropology.com called “On mtDNA diversity within Africa, before the out of Africa migrations”.

  6. The weirdest thing is that the Australian Aboriginals have the M haplogroup Mt DNA too. I am not a racialist, but I think DNA and genes works in ways, humans haven’t fully understood.
    Heres my take on race: Even though we are all 99.9% genetically the same and there is no racial heiarchy, genes work interconnectly and electromagnetically and a mutation occurs due to environmental change (Quantum Physics proves we are connected to the Earth energetically and electronmentally; DNA makes an electromagnetic feild in and around the body)therefore altering the way the DNA works interconnectly and in results in changes we as racial or sub-racial in ALL ethnic groups from a race similar to the “Bushman” of Southern Africa.
    @terryt: Thanks for the link. Exactly. Gentically Indegenous-Africans have the most genetically variety in a racial groups and is the home of 4 sub-racial groups.

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