Map of sub-Sahara Africa indicating geographical location and linguistic groups. Geometric figures represent linguistic affiliations and geographic locations.

Map of sub-Sahara Africa indicating geographical location and linguistic groups. Geometric figures represent linguistic affiliations and geographic locations.

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Here, we present 12 loci paternal haplotypes (Y-STR profiles) against the backdrop of the Y-SNP marker system of Bantu males from the Maputo Province of Southeast Africa, a region believed to represent the southeastern fringe of the Bantu expansion. Our Maputo Bantu group was analyzed within the context of 27 geographically relevant reference popul...

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... 27 reference populations were typed for the same 12 Y-STR loci and binary Y-SNP markers genotyped for the MAP population in this study. A list of populations, abbreviations, sample number, geographical regions, language affiliations and references is provided in Table 1. A map of Africa indicating the locations of the populations is included in Fig. ...
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... relationships among the MAP and the reference populations were assessed using MDS analysis based on Rst distances derived from the Y-STR data (Fig. 2) and confirmed by a MDS utilizing the Jaccard similarity indices (Supplementary Fig. 1). The 12-loci MDS plot (Fig. 2) displays a loose aggregation of populations mainly on the right side of the plot encompassing all of the Bantu groups including those from both East (RWA, SUK and TUR) as well as West (AKE, BEN, DUM, ESH, EVI, FAN, GAL, KOT, MAK, NDU, NGU, NZE, OBA, ORU, PUN, SHA, TEK and TSO) Africa. ...
Context 3
... total of 27 geographically relevant reference populations were selected for genetic comparison including West African and East African Bantus as well as six non-Bantu groups (Pygmy populations from Gabon and Cameroon, and the Burunge, Datog, Hadza and Sandawe from Tanzania). The 27 reference populations were typed for the same 12 Y-STR loci and binary Y-SNP markers genotyped for the MAP population in this study. A list of populations, abbreviations, sample number, geographical regions, language affiliations and references is provided in Table 1. A map of Africa indicating the locations of the populations is included in Fig. ...
Context 4
... relationships among the MAP and the reference populations were assessed using MDS analysis based on Rst distances derived from the Y-STR data (Fig. 2) and confirmed by a MDS utilizing the Jaccard similarity indices (Supplementary Fig. 1). The 12-loci MDS plot (Fig. 2) displays a loose aggregation of populations mainly on the right side of the plot encompassing all of the Bantu groups including those from both East (RWA, SUK and TUR) as well as West (AKE, BEN, DUM, ESH, EVI, FAN, GAL, KOT, MAK, NDU, NGU, NZE, OBA, ORU, PUN, SHA, TEK and TSO) Africa. Although the MAP is immediately surrounded by Bantu tribes (SUK and TUR from Tanzania and ESH and MAK from Gabon), it is positioned near the upper perimeter of the Bantu cluster and close to two non-Bantu populations from Tanzania, DAT (Nilo-Saharan) and SAN ...

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... which includes samples from haplogroup A. Haplogroup A is virtually restricted to the African continent, reaching the highest frequencies in Khoisan-speaking populations. It is also frequent in the Nilotic groups from east and northeast Africa 23,36-38 , and it was sporadically observed in the southeast and southwest populations 39,40 . Some lineages inside clade A have geographic specificity. ...
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... Supplementary Table 1 provides the population designations and number of individuals in each of the three genotyped groups. Isolation of the genomic DNA was performed as previously described (Rowold et al., 2014;Chennakrishnaiah et al., 2013). ...
... Especially interesting is the observation that although there appears to be an asymmetrical longitudinal partitioning of E1b1b1-M35 and R1b1-P25 in the eastern versus western regions of the continent, respectively, as reported in previous investigations (Luis et al., 2004;Rowold et al., 2014), both of these polymorphisms are present in the Maputo and Central Mozambique collections. The absence of E1b1b1-M35 and R1b1-P25 in North Mozambique may be due to detection failure considering the small sample size (N = 10). ...
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Abstract Background As most ancient biological samples have low levels of endogenous DNA, it is advantageous to enrich for specific genomic regions prior to sequencing. One approach—in-solution capture-enrichment—retrieves sequences of interest and reduces the fraction of microbial DNA. In this work, we implement a capture-enrichment approach targeting informative regions of the Y chromosome in six human archaeological remains excavated in the Caribbean and dated between 200 and 3000 years BP. We compare the recovery rate of Y-chromosome capture (YCC) alone, whole-genome capture followed by YCC (WGC + YCC) versus non-enriched (pre-capture) libraries. Results The six samples show different levels of initial endogenous content, with very low (
... doi: bioRxiv preprint however, we did not observe any of the SNPs specific to the V88 branch. Whereas for STM2, we identified a common and widespread African haplogroup characteristic of the Bantu expansion [40], E1b1a1a1-M80, consistent with the results from the analyses of the autosomal chromosomes [22]. For the remaining individuals, we could not resolve haplogroups due to the low depth at which they were sequenced due to limited budget, although our results might be impacted by the paucity of Y-SNPs that define the tips of the Native American haplogroups versus haplogroups from other well-characterized populations in the database employed. ...
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Background As most ancient biological samples have low levels of endogenous DNA, it is advantageous to enrich for specific genomic regions prior to sequencing. One approach – in-solution capture-enrichment – retrieves sequences of interest and reduces the fraction of microbial DNA. In this work, we implement a capture-enrichment approach targeting informative regions of the Y chromosome in six human archaeological remains excavated in the Caribbean and dated between 200 and 3,000 years BP. We compare the recovery rate of Y-chromosome capture (YCC) alone, whole-genome capture followed by YCC (WGC+Y) versus non-enriched (pre-capture) libraries. Results We recovered 17–4,152 times more targeted unique Y-chromosome sequences after capture, where 0.01-6.2% (WGC+Y) and 0.01-23.5% (YCC) of the sequence reads were on-target, compared to 0.0002-0.004% pre-capture. In samples with endogenous DNA content greater than 0.1%, we found that WGC followed by YCC (WGC+Y) yields lower enrichment due to the loss of complexity in consecutive capture experiments, whereas in samples with lower endogenous content, WGC+Y yielded greater enrichment than YCC alone. Finally, increasing recovery of informative sites enabled us to assign Y-chromosome haplogroups to some of the archeological remains and gain insights about their paternal lineages and origins. Conclusions We present to our knowledge the first in-solution capture-enrichment method targeting the human Y-chromosome in aDNA sequencing libraries. YCC and WGC+Y enrichments lead to an increase in the amount of Y-DNA sequences, as compared to libraries not enriched for the Y-chromosome. Our probe design effectively recovers regions of the Y-chromosome bearing phylogenetically informative sites, allowing us to identify paternal lineages with less sequencing than needed for pre-capture libraries. Finally we recommend considering the endogenous content in the experimental design and avoiding consecutive rounds of capture for low-complexity libraries, as clonality increases considerably with each round.
... Supplementary Table 1 provides the population designations and number of individuals in each of the three genotyped groups. Isolation of the genomic DNA was performed as previously described (Rowold et al., 2014;Chennakrishnaiah et al., 2013). ...
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Here we report the results of fine resolution Y chromosomal analyses (Y-SNP and Y-STR) of 267 Bantu-speaking males from three populations located in the southeast region of Africa. In an effort to determine the relative Y chromosomal affinities of these three genotyped populations, the findings are interpreted in the context of 74 geographically and ethnically targeted African reference populations representing four major ethno-linguistic groups (Afro-Asiatic, Niger Kordofanin, Khoisan and Pygmoid). In this investigation, we detected a general similarity in the Y chromosome lineages among the geographically dispersed Bantu-speaking populations suggesting a shared heritage and the shallow time depth of the Bantu Expansion. Also, micro-variations in the Bantu Y chromosomal composition across the continent highlight location-specific gene flow patterns with non-Bantu-speaking populations (Khoisan, Pygmy, Afro-Asiatic). Our Y chromosomal results also indicate that the three Bantu-speaking Southeast populations genotyped exhibit unique gene flow patterns involving Eurasian populations but fail to reveal a prevailing genetic affinity to East or Central African Bantu-speaking groups. In addition, the Y-SNP data underscores a longitudinal partitioning in sub-Sahara Africa of two R1b1 subgroups, R1b1-P25* (west) and R1b1a2-M269 (east). No evidence was observed linking the B2a haplogroup detected in the genotyped Southeast African Bantu-speaking populations to gene flow from contemporary Khoisan groups.
... The available genetic data on sub-Saharan African populations including mtDNA and Y-specific markers [7][8][9][10] indicate various degrees of admixture between the invading Bantus and the autochthonous populations of sub-Saharan Africa, depending on the indigenous tribes involved, location and marker system employed. But, for the most part, Bantu DNA is overwhelmingly present in most sub-Equatorial African populations, including the Southeast African Bantus [11]. ...
... The simplest possible projections were obtained by subjecting the resulting MJ networks to post processing using maximum parsimony parameters. Y-specific haplogroup data for the Maputo individuals was obtained from the literature [11]. ...
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The aim of this investigation is to determine the capacity of the newly available Y-STR multiplex system, PowerPlex ® Y23, to discriminate between populations of similar ancestry, specifically of African descent. Using network analysis, the parti - tioning of the 23-loci haplotypes was assessed in relation to Y-specific haplogroups. In the network projection, a number of Bantu haplogroups including E1b1a1a1a-M58, B2a1a-M109 and E2b-M98 as well as non-Bantu African haplogroups such as B2b2-M115 and A1b1b2b1-M118 segregate differentially based on Y-STR haplotypes. Further, we contrast population genetics parameters of the Bantu Southeast African and African American populations. Also, the genetic distance values il- lustrate the robust capacity of the PowerPlex ® Y23 system to discriminate among populations. Noteworthy, we demonstrate that the two populations of African ancestry are as genetically different from each other as the African American population is from the Caucasian, Hispanic and Native American groups. For the first time, allelic and genotypic frequencies for the 23 Y-STR loci included in the PowerPlex ® Y23 forensic system are provided for a continental Southeast African population, the Bantu from the Maputo Province.