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南非混血人群遗传血统的大规模地理分析。

Wide-scale geographical analysis of genetic ancestry in the South African Coloured population.

作者信息

Lankheet Imke, Hammarén Rickard, Alva Caballero Lucía Ximena, Larena Maximilian, Malmström Helena, Jolly Cecile, Soodyall Himla, de Jongh Michael, Schlebusch Carina

机构信息

Human Evolution, Department of Organismal Biology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden.

Palaeo-Research Institute, University of Johannesburg, Johannesburg, South Africa.

出版信息

BMC Biol. 2025 Jul 22;23(1):219. doi: 10.1186/s12915-025-02317-5.

DOI:10.1186/s12915-025-02317-5
PMID:40696318
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12281806/
Abstract

BACKGROUND

The South African Coloured (SAC) population, a prominent admixed population in South Africa, reflects centuries of migration, admixture, and historical segregation. Descendants of local Khoe-San and Bantu-speaking populations, European settlers, and enslaved individuals from Africa and Asia, SAC individuals embody diverse ancestries. This study investigates the genetic makeup of SAC individuals, utilizing autosomal genotypes, mitochondrial DNA and Y-chromosome data. We analyse new genotype data for 125 SAC individuals from seven locations.

RESULTS

Our analysis, based on a dataset comprising 356 SAC individuals from 22 geographic locations, revealed significant regional variations in ancestry. Khoe-San ancestry predominates in 14 locations, highlighting its lasting influence. Inland regions exhibit higher proportions of Khoe-San ancestry, eastern regions show more Bantu-speaker/West African ancestry, and western/coastal areas, particularly around Cape Town, display increased Asian ancestry. Additionally, sex-biased admixture ratios show male-biased admixture from East Africans and Europeans, and female-biased admixture from Khoe-San populations, which is supported by mitochondrial and Y-chromosome data.

CONCLUSIONS

The observed patterns of significant regional variation in ancestry reflect historical migrations and settlement patterns. This research underscores the importance of studying the SAC population to understand South Africa's historical migrations, providing insights into the complex genetic heritage of South Africans.

摘要

背景

南非混血人种（SAC）是南非一个显著的混合人群，反映了几个世纪的移民、混合以及历史隔离情况。SAC人群是当地科伊桑人和说班图语人群、欧洲定居者以及来自非洲和亚洲的被奴役者的后代，体现了多样的祖先血统。本研究利用常染色体基因型、线粒体DNA和Y染色体数据调查SAC人群的基因构成。我们分析了来自七个地点的125名SAC个体的新基因型数据。

结果

我们基于一个包含来自22个地理位置的356名SAC个体的数据集进行分析，发现祖先血统存在显著的区域差异。科伊桑血统在14个地点占主导，凸显了其持久影响。内陆地区科伊桑血统比例更高，东部地区班图语使用者/西非血统更多，而西部/沿海地区，特别是开普敦周边，亚洲血统有所增加。此外，性别偏向的混合比例显示，男性有偏向于来自东非人和欧洲人的混合，女性有偏向于来自科伊桑人群的混合，线粒体和Y染色体数据支持了这一点。

结论

观察到的祖先血统显著区域差异模式反映了历史上的移民和定居模式。这项研究强调了研究SAC人群对于理解南非历史移民的重要性，为了解南非人复杂的基因遗产提供了见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/1ce83cf68756/12915_2025_2317_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/e2b82256d0dd/12915_2025_2317_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/dccfcc614917/12915_2025_2317_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/1ce83cf68756/12915_2025_2317_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/e2b82256d0dd/12915_2025_2317_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/dccfcc614917/12915_2025_2317_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91b7/12281806/1ce83cf68756/12915_2025_2317_Fig3_HTML.jpg

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The genetic legacy of the expansion of Bantu-speaking peoples in Africa.非洲班图语民族扩张的遗传遗产。
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Haplogrep 3 - an interactive haplogroup classification and analysis platform.Haplogrep 3 - 一个交互式的单倍群分类和分析平台。
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Male-biased migration from East Africa introduced pastoralism into southern Africa.来自东非的雄性偏向性迁移将畜牧业引入了南非。
BMC Biol. 2021 Dec 7;19(1):259. doi: 10.1186/s12915-021-01193-z.
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Genetic substructure and complex demographic history of South African Bantu speakers.南非班图语使用者的遗传亚结构和复杂的人口历史。
Nat Commun. 2021 Apr 7;12(1):2080. doi: 10.1038/s41467-021-22207-y.
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Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.科伊桑人基因组揭示了独特的变异，并确认了智人最深的种群分歧。
Mol Biol Evol. 2020 Oct 1;37(10):2944-2954. doi: 10.1093/molbev/msaa140.
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Y-Chromosome Variation in Southern African Khoe-San Populations Based on Whole-Genome Sequences.基于全基因组序列的南非科伊桑人群 Y 染色体变异。
Genome Biol Evol. 2020 Jul 1;12(7):1031-1039. doi: 10.1093/gbe/evaa098.
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