Mitochondrial Footprints of Human Expansions in Africa

School of Biological Sciences, Massey University, Palmerston North, New Zealand.
The American Journal of Human Genetics (Impact Factor: 10.93). 10/1997; 61(3):691-704. DOI: 10.1086/515503
Source: PubMed


mtDNA studies support an African origin for modern Eurasians, but expansion events within Africa have not previously been investigated. We have therefore analyzed 407 mtDNA control-region sequences from 13 African ethnic groups. A number of sequences (13%) were highly divergent and coalesced on the "mitochondrial Eve" in Africans. The remaining sequences also ultimately coalesced on this sequence but fell into four major clusters whose starlike phylogenies testify to demographic expansions. The oldest of these African expansions dates to approximately 60,000-80,000 years ago. Eurasian sequences are derived from essentially one sequence within this ancient cluster, even though a diverse mitochondrial pool was present in Africa at the time.

Download full-text


Available from: Martin Richards,
  • Source
    • "The nucleotide positions 15997-16391 (HVI) and 048- 408 (HVII) were analysed [10]. The haplotype diversity (h) was calculated according to Tajima [11] and random match probability (p) was calculated according to Stoneking et al [5]. "
    [Show abstract] [Hide abstract]
    ABSTRACT: The analysis of the control region of human mitochondrial genome (mtDNA) especially hypervariable regions I (HVI) and II (HVII) segments have been proven to be useful for human identification. For forensic application of mtDNA profiling in Malaysia, a comprehensive database on both HVI and HVII regions are essential. In order to identify polymorphic positions and to determine their frequency in the Malay population, mtDNA HVI and HVII regions of 103 maternally unrelated individuals were amplified ,sequenced and compared with Cambridge reference sequence (CRS). Sequence comparison led to the identification of a total of 446 and 604 location polymorphisms in mtDNA HVI and HVII regions respectively. This polymorphisms defined by 88 haplotypes (81 unique) in the HVI and 78 haplotypes (64 unique) in the HVII regions. In combined HVI and HVII defined 101 haplotypes (99 unique) was defined. In the HVII region All the individuals in HVII showed nucleotide transition event from A G at nucleotide position 073 and 263 and an insertion of cytosine (315.1C) at nucleotide position 315. The genetic diversity and probability of random match in combined HVI and HVII of 103 Malay individuals was found to be 0.9996 and 0.0101 respectively.Scientific World, Vol. 12, No. 12, September 2014, page 24-29
    10/2015; 12(12):24. DOI:10.3126/sw.v12i12.13566
  • Source
    • "Within Africa , a number of mtDNA lineages have been associated with various stages of the Bantu dispersals , including subsets of L0a ( Pereira et al . 2001 ; Watson et al . 1997 ) , L1c ( Batini et al . 2007 ; Salas et al . 2002 ) , L2a ( Pereira et al . 2001 ; Salas et al . 2002 ) , L3b ( Salas et al . 2002 ; Soares et al . 2012 ; Watson et al . 1997 ) and L3e ( Ban - delt et al . 2001 ; Pereira et al . 2001 ; Plaza et al . 2004 ; Salas"
    [Show abstract] [Hide abstract]
    ABSTRACT: The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral traditions, with attempts to match up the archaeological evidence where possible. This is an obvious area to which archaeogenetics can contribute, yet Uganda, at the heart of these developments, has not been studied for mitochondrial DNA (mtDNA) variation. Here, we compare mtDNA lineages at this putative genetic crossroads across 409 representatives of the major language groups: Bantu speakers and Eastern and Western Nilotic speakers. We show that Uganda harbours one of the highest mtDNA diversities within and between linguistic groups, with the various groups significantly differentiated from each other. Despite an inferred linguistic origin in South Sudan, the data from the two Nilotic-speaking groups point to a much more complex history, involving not only possible dispersals from Sudan and the Horn but also large-scale assimilation of autochthonous lineages within East Africa and even Uganda itself. The Eastern Nilotic group also carries signals characteristic of West-Central Africa, primarily due to Bantu influence, whereas a much stronger signal in the Western Nilotic group suggests direct West-Central African ancestry. Bantu speakers share lineages with both Nilotic groups, and also harbour East African lineages not found in Western Nilotic speakers, likely due to assimilating indigenous populations since arriving in the region ~3000 years ago.
    Human Genetics 07/2015; 134(9). DOI:10.1007/s00439-015-1583-0 · 4.82 Impact Factor
  • Source
    • "Similar transient increases in Neanderthal population densities may account for the irregular manifestation of symbolic expression in the European Mousterian (compare the temporal pattern of Mousterian innovation in Langley, Clarkson, and Ulm 2008 with Mousterian site abundance evidence of Neanderthal population density in Stringer et al. 2003 and Lahr and Foley 2003). Later population expansion in Africa beginning in the late MSA (80–70 Ka BP) and continuing into the LSA/UP, as reflected in both genetic (Excoffier and Schneider 1999; Forster 2004; Harpending et al. 1993; Watson et al. 1997) and archeological evidence (Mellars and French 2011; Steele and Klein 2005; Stiner et al. 1999), produced population densities sufficient for a high rate of CTE, and thus demographic factors, rather than cognitive capabilities, might account for the persistent expression of behavioral modernity in the LSA and UP (Powell, Shennan, and Thomas 2009; Shennan 2001). "

    Current Anthropology 01/2014; 55(4):434-435. · 2.93 Impact Factor
Show more