Such studies have produced large amounts of insightful data which have revealed medically relevant genetic loci and aided the interpretation of the pathogenicity of genetic variants, advancing precision medicine for all populations (Choudhury et al. During the first admixture event 1.8 kya, the European component is best resembled by present-day northwestern Europeans, whereas during the second pulse 300 years ago, the European component is more closely related to contemporary southwestern Europeans (Vicente, Priehodov, et al. However, the magnitude of the sex bias is difficult to pinpoint from X chromosomal and autosomal ancestry proportions due to potential confounding from complex demographic histories, among others (Pfennig and Lachance 2023). However, Durvasula and Sankararaman (2020) did not find evidence for introgression at the MUC7 locus when they applied a novel statistical method (ArchIE) that identifies introgressed segments based on multiple population genetics statistics to western African genomes. 2012). Kenyans are ectomorphs, American and East Africans have the same height and weight but East Africans are the ones with much bigger muscles. Aaron Pfennig, Lindsay N Petersen, Paidamoyo Kachambwa, Joseph Lachance, Evolutionary Genetics and Admixture in African Populations, Genome Biology and Evolution, Volume 15, Issue 4, April 2023, evad054, https://doi.org/10.1093/gbe/evad054. 2017). Genetic clineA gradual change of allele frequencies over a specified geographic area. Individuals with shared genetic ancestry tend to be more genetically similar. In the last decade, the importance of studying genetic variation in Africa has become more appreciated, and a heap of genetic studies of contemporary and ancient individuals has revealed complex population structure and history in Africa, complementing archeological and linguistic studies (e.g., Tishkoff et al. 2013; Choudhury et al. A central premise of precision medicine is that ancestral variation plays a key role in disease processes. Published by Oxford University Press on behalf of Society for Molecular Biology and Evolution. Genetic analyses generally revealed weak population structure, with most of the variation found within groups rather than between groups (kov et al. 2017; Serra-Vidal et al. (2016), Arauna et al. 7. 2021). Analyses of uniparental markers as well as autosomal and X chromosomal data also showed that this gene flow from wBSPs into RHGs was male-biased (Verdu et al. 2011; Pagani et al. However, archeological and linguistic studies are largely unable to disentangle cultural diffusion from demic diffusion, that is, movements of people (Robertson and Bradley 2000; Diamond and Bellwood 2003). 2013). On the other side, youve got the insidersguys who, without fanfare or self-promotion, quietly make names for themselves making the best athletes in the world even 2019). 2016). 2014). 2018). WebCLASS OF 2020 SENIOR PROFILE ADMISSIONS CRITERIA AND PROCESS Eligibility Applications are accepted from 8th grade boys enrolled in parochial, independent, and Nevertheless, when accounting for recent admixture, studying the genetics of the traditional huntergatherer groups in Africa can provide a snapshot of deep population structure due to their long-term population continuity. Bodybuilders work hard to perfect their six-pack abs and other muscles through intense training sessions, but many also have ripped bodies due to their genetics. In addition, cultural and religious practices contributed to the high degree of heterogeneity in ancestral contributions among SAC individuals sampled from different regions of South Africa (de Wit et al. Furthermore, 29% (44/154) of the Likely Pathogenic ClinVar variants in the data set by Fan et al. Despite the evidence for archaic admixture, it cannot be ruled out that deep population structure confounds the inference of archaic ghost introgression in Africa (Ragsdale et al. For full access to this pdf, sign in to an existing account, or purchase an annual subscription. 2010; Petersen et al. Why do East African men have bigger muscles? 2016). 2020). In light of this, we call for more (responsibly conducted) studies of genetic variation in Africa and research capacity building on the African continent. In line with the OOA model, many human populations experienced a major decline in Ne coinciding with the OOA migration 7050 thousand years ago (kya) (Bergstrm et al. In contrast to seBSPs, swBSPs appear to have reached southern Africa more recently (750 ya), as indicated by more recent admixture of a western African-related source in the Khoisan-speaking Khwe and !Xun from Angola (Busby et al. 2019; Wang et al. However, more studies of whole genome sequences are needed for exact dating. Interestingly, the specific adaptive mutations seen in the Ethiopian Highlands differ from what has been observed in the Tibetan Plateau and the Andean Altiplano. Two major migratory routes of Bantu-speaking populations (BSPs) have been hypothesized. WebEast African Genetics. The inbuilt genetic that favors physical/athletic gene variants. 2017; Shriner and Rotimi 2018a; Novkov et al. 3. 2022). This suggests that the introgressing archaic ghost lineage diverged approximately at the same time from the modern human lineage as Neanderthals (Lachance et al. 2014; Choudhury et al. East Africans have different fat percentages compared to Europeans, Americans, and other countries. 2012; Lachance et al. 2020). 2020). 2017; Prendergast et al. The fact East African people have the highest intermuscular fat percentage among all. 2019; Lipson et al. 2019). These are some genes I saw on here that carry an advantage in bodybuilding and my genotypes . For further review of the history of Khoe-San populations, see Pakendorf and Stoneking (2021). 2021). In Africa, the Ethiopian Highlands are 1,500 meters above sea level, with summits as high as 4,550 meters above sea level. In western Africa, wBSPs asymmetrically mixed with resident RHG groups, with RHG groups receiving higher amounts of gene flow from wBSPs (Jarvis et al. Uniparental markersMitochondrial DNA and Y chromosomes, which are transmitted exclusively maternally or paternally without recombination. 2017). Similarly to phylolinguistics (e.g., Rexov et al. 2020). Through this admixture event, the Fulani likely received a European LP variant 13910*T (rs4988235) in the LCT gene region that was then positively selected, reaching frequencies between 18% and 60% in Fulani groups (Lokki et al. (A) The stepwise spread of lactose persistence from northeastern Africa into eastern Africa and subsequently into southern Africa. Only then we will be able to accrue a holistic picture of human genetic variation and fine-scale population structure on the African continent. 2. (2017), Scheinfeldt et al. As expected, the Sahara, Red Sea, central African rainforest, and the Kalahari Desert act as ecological barriers. A greater understanding of the genetic architecture can help explain differences in disease risk between populations. 2021). 2019; Lipson et al. 2017). found that the East African LP allele is largely absent from ancient pastoralist individuals from Kenya and Tanzania, indicating that east African pastoralists were lactose intolerant as recently as 31 kya (Prendergast et al. A textbook example of dietary adaptation and convergent evolution involves lactase persistence, and studies of African pastoralists have identified adaptive regulatory variants near the LCT and MCM6 genes (Segurel and Bon 2017). This code appears to be responsible for allowing East Africans to increase their muscle mass. 2017). 2010; Montinaro and Capelli 2018). Cladistic analysis of Bantu languages: a new tree based on combined lexical and grammatical data, A new paradigm: the African early iron age without Bantu migrations, Ancestry and disease in the age of genomic medicine, An ancestral recombination graph of human, neanderthal, and Denisovan genomes, Genetic adaptation to high altitude in the Ethiopian highlands, Genomic evidence for shared common ancestry of East African huntinggathering populations and insights into local adaptation, Genomic variation in seven Khoe-San groups reveals adaptation and complex African history, Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago, Khoe-San genomes reveal unique variation and confirm the deepest population divergence in homo sapiens, Tales of human migration, admixture, and selection in Africa, Stronger signal of recent selection for lactase persistence in Maasai than in Europeans, On the evolution of lactase persistence in humans, Along the Indian ocean coast: genomic variation in Mozambique provides new insights into the Bantu expansion, Genetic substructure and complex demographic history of South African Bantu speakers, Heterogeneity in Palaeolithic population continuity and Neolithic expansion in North Africa, Whole-genome-sequence-based haplotypes reveal single origin of the sickle allele during the Holocene wet phase, The missing diversity in human genetic studies, Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians, Reconstructing prehistoric African population structure, Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81), Localization of adaptive variants in human genomes using averaged one-dependence estimation, Local ancestry adjusted allelic association analysis robustly captures tuberculosis susceptibility loci, Prospective avenues for human population genomics and disease mapping in Southern Africa, Whole-genome sequencing of Bantu-speakers from Angola and Mozambique reveals complex dispersal patterns and interactions throughout sub-Saharan Africa, The genetic structure and history of Africans and African Americans, Extensive admixture and selective pressure across the Sahel belt, Fine-scale human population structure in Southern Africa reflects ecogeographic boundaries, Ancestral mitochondrial N lineage from the Neolithic green Sahara, Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations, Sociocultural behavior, sex-biased admixture, and effective population sizes in Central African pygmies and non-pygmies, Male-biased migration from East Africa introduced pastoralism into Southern Africa, Genetic affinities among Southern Africa hunter, gatherers and the impact of admixing farmer and herder populations, Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait, Identification of African-specific admixture between modern and archaic humans, Ancient genomes reveal complex patterns of population movement, interaction, and replacement in sub-Saharan Africa, 4000-Year-old hair from the Middle Nile highlights unusual ancient DNA degradation pattern and a potential source of early Eastern Africa pastoralists, Tracking human population structure through time from whole genome sequences, An integrated personal and population-based Egyptian genome reference, Archaic hominin introgression in Africa contributes to functional salivary MUC7 genetic variation, Strong selection at MHC in Mexicans since admixture. 4. 1. Fine-mappingThe processes of refining the location of trait-associated variants in the genomic region of interest to identify likely causal variants based on association statistics and linkage disequilibrium patterns. This European-related ancestry was most likely indirectly introduced into the Fulani via admixture with a northern African population (e.g., a Mozabite-like population; fig. Recent genetic studies paint a complex picture of population continuity and admixture in eastern Africa since the introduction of pastoralism in northeastern Africa some 8 kya (e.g., Haber et al. Broadly in agreement with historical records of the transatlantic slave trade, genetic studies of admixed populations from the Americas showed that most of the African ancestry can be traced to WestCentral Africa, for example, similar to the Yoruba or Esan from Nigeria, with a smaller fraction being similar to south-eastern African ancestry, for example, Mbukushu-like from Botswana and/or Luhya-like from Kenya (Patin et al. Furthermore, variants that are rare on a global level (<1% frequency) are more frequently found to be common in African populations, that is, there is an excess of variants exclusively found in Africans (Auton et al. 2. 2020; Diallo et al. Since they never had bad diseases which lead to skin tissue rupturing, their skin is able to repair quickly. Altogether, this suggests that North Africa has a deep history of continuous human migration and admixture. ), genetics, testosterone, dating, Psychology, and race & ethnicity. Reassuringly, the different approaches also inferred similar demographic scenarios, involving an archaic lineage that diverged around the same time as the Neanderthal lineage (800500 kya) and recurring, low-level admixture as recently as 30 kya (Hsieh, Woerner, et al. WebDiscover short videos related to middle east genetics body on TikTok. 1. 2014; Macholdt et al. Understanding how this population-specific genetic variation influences complex traits is particularly important in the context of polygenic scores. Spatial visualizations of admixture and migration in Africa. Genetic studies of uniparental and autosomal markers initially suggested that BSPs are largely genetically homogenous groups of people (i.e., FST 0.02) (Coelho et al. 2019; Bergstrm et al. Cannot lose weight? 2022). 2017). We thank Mimi Holness for her helpful comments and suggestions. 2014, 2017). 2015). In the following subsections, we discuss major migration events that have shaped population structure in Africa during the past 10,000 years. 2022). 2015; Mallick et al. READ THE RULES BEFORE POSTING. Training more diverse scientists and building research capacities on the African continent not only leads to better research but may also help to address the lack of diversity in study cohorts (Hindorff et al. Henn et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (, A long-standing hybrid population between Pacific and Atlantic herring in a subarctic fjord of Norway, The impact of modern admixture on archaic human ancestry in human populations, Horizontal transposon transfer and their ecological drivers: the case of flower-breeding Drosophila. Gene flowThe movement of individuals and their genetic material from one population to another population. East Africans, it seems, is more suitable for hard physical labor than other countries. Khoe-San show the deepest split times, followed by RHG groups (e.g., Mbuti) and other extant populations. Thus, there were ample opportunities for admixture between modern humans and archaic hominins. This admixture is evident from 3,000-year-old Late Neolithic individuals from Kelif el Boroud, Morocco, who are best modeled as a mixture of Ifri nAmr or Moussa and European Neolithic groups (Fregel et al. 2019). Save my name, email, and website in this browser for the next time I comment. 2010). Many huntergatherer groups experienced declines in Ne during the Holocene and have small census population sizes today (Patin et al. The Maghrebi component is represented by 15,000-year-old Paleolithic individuals from Taforalt, Morocco, whose ancestry is best modeled as a mix of an early Holocene Middle Eastern (63.5%), that is, Levantine Natufians, and a sub-Saharan component (Van De Loosdrecht et al. Depending on subsistence strategy, different distributions of uniparental markers have been observed in the Sahel. 2022). Generally, it is assumed that they have either merged into or were replaced by neighboring agropastoral groups, obscuring some of the ancestral genetic variation and structure (Pagani et al. 2018; Sengupta et al. A brief overview of the trans-atlantic slave trade, slave voyages: the Trans-Atlantic Slave Trade Database. The dominance of East African runners in marathons (especially Kenyans and Ethiopians) led people to assume a genetic predisposition (Pitsiladis, Onywera, Finally, we explore the biomedical implications of population structure in Africa on health and disease and call for more ethically conducted studies of genetic variation in Africa. 2022). In sub-Saharan Africa, strong selection for malaria resistance has contributed to the near fixation of the Duffy blood group, elevated rates of G6PD deficiency, and sickle cell disease (Kariuki and Williams 2020). (2017), Hollfelder et al. This estimate is broadly consistent with the estimated coalescence times of North African-specific mtDNA lineages (44 21.6 kya for the U6 lineage, 13.0 5.7 kya for the U6a1 lineage, and 13.5 3.7 kya for the U6a* lineage) and Y chromosome haplogroups (1512 kya for E-M78 in most populations and 4430 kya in Tunisian Imazighen) (Fadhlaoui-Zid et al. In addition, African populations harbor the greatest genetic diversity, exhibit the lowest levels of linkage disequilibrium (LD), have the largest long-term effective population sizes (Ne), and show the deepest split times of all human lineages (Tishkoff et al. 2020; Chen et al. Second, we describe the genetic legacies of admixture events that have occurred during the past 10,000 years. The first evidence for archaic ghost introgression in Africa was obtained by applying S*an approach that searches for highly divergent haplotypesto African populations (Plagnol and Wall 2006). 2016; Lopez et al. In contrast to the Fulani, Arab pastoralists have a higher mtDNA diversity, suggesting variable levels of female admixture into pastoral populations (kov et al. 3. 2020). Overall, these examples underline the importance of surveying of genetic variation and population structure in Africa for clinical applications. 2019; Micheletti et al. The selective pressure at this locus appears to be of regulatory nature as no nonsynonymous variant was found (Hsieh, Veeramah, et al. 2017). However, this may also be the result of a strong population bottleneck (Fortes-Lima et al. 2010; Meyer et al. 2019; Wall et al. 2018). For example, population-specific recombination maps have the potential to advance the detection of genotypephenotype correlations in admixed populations and further the field of precision medicine relevant to all populations (Choudhury et al. The Khoe-San are basal to all other human lineages with an estimated divergence time of 300200 kya (Schlebusch et al. Although recent admixture with agriculturists and pastoralists partially obscures ancestral variation and population structure in traditionally foraging groups, their genomes may still provide exciting glimpses into the deep demographic history of modern humans (Bryc et al. Although modern humanNeanderthal interbreeding most likely occurred in Eurasia after the OOA migration (possibly in the Levant) (Lazaridis et al.