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Dienekes, Blaine, Razib, and Simon have all chimed in introducing us to a new paper from the American Journal of Human Genetics. It seems like a really interesting one, one that takes mtDNA to construct a phylogeny used to investigate what was happening to early Homo sapiens genetic diversity and populations within Africa. This study focuses on what was going on before the migrations out of Africa. The paper is titled, “The Dawn of Human Matrilineal Diversity,” and is open access. The research has already made it all the way onto some of my favorite news sources, such as Digg and Slashdot, but the big timers like CNN, BBC, the Economist, and the AFP are also carrying word.

The researchers constructed a mitochondrial phylogeny of 624 sub-Saharan individuals. They paid close attention to what’s going on with the phylogeny of the Khoisan, because previous research like Knight et al.‘s study on another loci, the Y-chromosome has shown that the Khoisan are carriers of oldest-diverging Y haplogroup, the Y-haplogroup A, indicating they may represent the deepest clade of modern humans. Recent research identified that the pygmy Khoisan populations share an ancestral and indigenous lineage of mtDNA with a neighboring population, the Bantu and this new study confirmed this.

The phylogenetic tree in this newer study is really informative. I’ve included it to the right. The researchers honed in on the mitochondrial haplogroup L, which is one of the oldest mtDNA haplogroups out there. The tree shows that early humans split into two small groups, demarcated by the L0 branch splitting from the L1’5 branch around 140,000 years ago. Based upon these two branches, the researchers were able to identify that one group was concentrated around eastern Africa (the L1’5 branch), while the other, the Khoisan’s L0 branch, in southern Africa. The sub-branches within the L1’5 clade represent all of the other L haplotypes in the entire remainder of humanity, including haplogroups of those that left Africa… further suggesting east Africa peoples were the main migrators out of Africa.

How could this happen? As populations of early humans migrated within Africa and reached southern Africa, they were cut off from the eastern African populations for a significant period of isolation to diverge into two separate clades. From ScienceDaily,

“Recent paleoclimatological data suggests that Eastern Africa went through a series of massive droughts between 135,000-90,000 years ago. It is possible that this climatological shift contributed to the population splits.”

The press is suggesting that this phenomenon indicated humans “started down the path of evolving into two separate species.” But that’s not true, they missed the part of the paper where populations came back together as a single, pan-African population about 40,000 years ago.

But, something is a little fishy, because as I already indicated, the coalescence calculations in this new paper indicate the Khoisan matrilineal ancestry diverged from the rest of the human mtDNA pool about 140,000 years ago. At that time, the five additional, currently extant maternal lineages (Haplogroups L1’5) existed in Eastern Africa, before the emergence of L0 branch. Looking at the phylogenetic tree, these haplogroups are more ancestral to the haplogroup L0 branch by at around 40,000 years, implying that the Khoisan may not be the deepest clade of living humans alive. This doesn’t match the Y-chromosome data, but we know already that mtDNA and Y-chromosome coalescent times aren’t the same… but this doesn’t match scores of other studies that indicate the Khoisan are a basal group of humans based off of their linguistic and cultural traits.

What this ultimately indicates is that eastern Africa may have truly been the cradle of humanity, at least the maternal cradle of modern humans. Which matches the fossil record, since some of the oldest remains of early human remains are also found in Eastern Africa, such as BOU-VP-16/1 and Omo 1 from Ethiopia.

    BEHAR, D., VILLEMS, R., SOODYALL, H., BLUESMITH, J., PEREIRA, L., METSPALU, E., SCOZZARI, R., MAKKAN, H., TZUR, S., COMAS, D. (2008). The Dawn of Human Matrilineal Diversity. The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2008.04.002
    KNIGHT, A. (2003). African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages. Current Biology, 13(6), 464-473. DOI: 10.1016/S0960-9822(03)00130-1
    Quintana-Murci, L., Quach, H., Harmant, C., Luca, F., Massonnet, B., Patin, E., Sica, L., Mouguiama-Daouda, P., Comas, D., Tzur, S., Balanovsky, O., Kidd, K.K., Kidd, J.R., van der Veen, L., Hombert, J., Gessain, A., Verdu, P., Froment, A., Bahuchet, S., Heyer, E., Dausset, J., Salas, A., Behar, D.M. (2008). Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proceedings of the National Academy of Sciences, 105(5), 1596-1601. DOI: 10.1073/pnas.0711467105
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