mtDNA variability in two Bantu‐speaking populations (Shona and Hutu) from Eastern Africa: Implications for peopling and migration patterns in sub‐Saharan Africa

Castrì, Loredana; Tofanelli, Sergio; Garagnani, Paolo; Bini, Carla; Fosella, Xenia; Pelotti, Susi; Paoli, Giorgio; Pettener, Davide; Luiselli, Donata

doi:10.1002/ajpa.21070

Cited by 29 publications

(23 citation statements)

References 39 publications

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“…The human leukocyte antigens (HLA) has been used for several decades as genetic markers to analyze populations coming from different geographic regions, to investigate the relationships among them and to study human migration that occurred in the past [1,3,4], in addition to their essential roles in histocompatibility and disease susceptibility [5,6]. HLA genes are located on the short arm of human chromosome 6 (6p21.3), its protein products localize at the cell surface where they play key role in immune function [5,7].…”

Section: Introductionmentioning

confidence: 99%

Human leukocyte antigen–A, –B, and –DRB1 allele and haplotype frequencies in the Mozambican population: A blood donor–based population study

et al. 2010

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Section: Introductionmentioning

confidence: 99%

Human leukocyte antigen–A, –B, and –DRB1 allele and haplotype frequencies in the Mozambican population: A blood donor–based population study

et al. 2010

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“…Despite this level of diversity, however, there is a high level of similarity between groups. 20 The increase in the rate of identification of slowly mutating NRY binary markers (ie, unique event polymorphisms (UEPs)) [21][22][23] has resulted in many studies designed to investigate the paternally mediated genetic relationships of sub-Saharan African populations. Scozzari et al 24 and Underhill et al 25 found UEP (M2 and its analogues such as DYS271G) present at high frequencies specifically in sub-Saharan Africa and suggested this marker as a signature of EBSP.…”

Section: Introductionmentioning

confidence: 99%

Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people

2012

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The expansion of the Bantu-speaking people (EBSP) during the past 3000-5000 years is an event of great importance in the history of humanity. Anthropology, archaeology, linguistics and, in recent decades, genetics have been used to elucidate some of the events and processes involved. Although it is generally accepted that the EBSP has its origin in the so-called Bantu Homeland situated in the area of the border between Nigeria and the Grassfields of Cameroon, and that it followed both western and eastern routes, much less is known about the number and dates of those expansions, if more than one. Mitochondrial, Y-chromosome and autosomal DNA analyses have been carried out in attempts to understand the demographic events that have taken place. There is an increasing evidence that the expansion was a more complex process than originally thought and that neither a single demographic event nor an early split between western and eastern groups occurred. In this study, we analysed unique event polymorphism and short tandem repeat variation in non-recombining Y-chromosome haplogroups contained within the E1b1a haplogroup, which is exclusive to individuals of recent African ancestry, in a large, geographically widely distributed, set of sub-Saharan Africans (groups ¼ 43, n ¼ 2757), all of whom, except one Nilo-Saharan-speaking group, spoke a Niger-Congo language and most a Bantu tongue. Analysis of diversity and rough estimates of times to the most recent common ancestors of haplogroups provide evidence of multiple expansions along eastern and western routes and a late, exclusively eastern route, expansion.

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“…There is also a unique distribution pattern of mtDNA haplotypes across Africa with some lineages restricted to specific geographical regions and/or language families (Fig. 3) (Newman 1980;Vigilant 1990Vigilant , 1991Chen et al 1995Chen et al , 2000Ehret 1995Ehret , 2006Watson et al 1996Watson et al , 1997Rando et al 1998;Krings et al 1999;Richards et al 2000;Pereira et al 2001;Salas et al 2002;Thomas et al 2002;Destro-Bisol et al 2004;Kivisild et al 2004;Beleza et al 2005;Coia et al 2005;Jackson et al 2005;Cerny et al 2006Cerny et al , 2008Cerny et al , 2009Gonzalez et al 2006;Batini et al 2007;Gonder et al 2007;Behar et al 2008;Coudray et al 2008;Quintana-Murci et al 2008Castri et al 2009;Coelho et al 2009;Poloni et al 2009;Saunier et al 2009;Stefflova et al 2009;Veeramah et al 2010). Additionally, there is also a predominance of some Y chromosome and mtDNA lineages in specific regions of Africa.…”

Section: Mtdna and Y Chromosome Variationmentioning

confidence: 99%

Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease

Gomez

Hirbo

Tishkoff

2014

Cold Spring Harbor Perspectives in Biology

109

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Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent.

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mtDNA variability in two Bantu‐speaking populations (Shona and Hutu) from Eastern Africa: Implications for peopling and migration patterns in sub‐Saharan Africa

Cited by 29 publications

References 39 publications

Human leukocyte antigen–A, –B, and –DRB1 allele and haplotype frequencies in the Mozambican population: A blood donor–based population study

Human leukocyte antigen–A, –B, and –DRB1 allele and haplotype frequencies in the Mozambican population: A blood donor–based population study

Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people

Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease

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