Mitochondrial HVRI and whole mitogenome sequence variations portray similar scenarios on the genetic structure and ancestry of northeast Africans

Meta Gene(2021)

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摘要
A significant portion of the current human adaptive and demographic traits is believed to have originated in north-east Africa, the putative scene of early human evolution. However interesting such assumption might be, the genetic structure and phenotypic traits of populations in this part of the globe remains poorly studied, including the widely analyzed genome of the mitochondria. Mitochondrial hypervariable region and whole mitogenomes of Sudanese and South Sudanese were compared to regional and global sequences. Haplotypes, mismatch distribution, PCAs, FST, Ne, and phylogenetic trees were constructed and analyzed. The HVRI in particular and whole mitogenomes produced robust phylogenies that were greatly concordant. Observed haplotypes were found to belong mainly to the major mitochondrial macrohapolgroups L0, L1, L2, L4, L5, L3, M and N. Expectedly the L0 was confined to populations previously shown to occupy the deepest and most ancestral lineages in the human evolutionary tree. The observed regional variation and diversity, depicted in various metrics imply that the female lineages in this part of Africa are likely to have been shaped by a longer history of in-situ evolution.
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关键词
Mitochondrial DNA,mtDNA control region,Sudan,Haplogroups,Linguistic groups
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