Modelling the demographic history of human North African genomes points to a recent soft split divergence between populations

被引:1
作者
Serradell, Jose M. [1 ]
Lorenzo-Salazar, Jose M. [2 ]
Flores, Carlos [2 ,3 ,4 ,5 ,6 ]
Lao, Oscar [1 ]
Comas, David [1 ]
机构
[1] CSIC Univ Pompeu Fabra, Inst Evolutionary Biol, Dept Med & Ciencies Vida, Carrer Doctor Aiguader 88, Barcelona 08003, Spain
[2] Inst Tecnol & Energias Renovables ITER, Genom Div, Granadilla Abona S-N, Santa Cruz De Tenerife 38600, Spain
[3] CSIC, Plataforma Genomica Alto Rendimiento Estudio Biodi, Inst Prod Nat & Agrobiol IPNA, Santa Cruz De Tenerife 38206, San Cristobal D, Spain
[4] Hosp Univ Nuestra Senora Candelaria, Res Unit, Carretera Rosario 145, Santa Cruz De Tenerife 38010, Spain
[5] CIBER Enfermedades Respiratorias CIBERES, Inst Salud Carlos 3, Ave Monforte Lemos 3-5, Madrid 28029, Spain
[6] Univ Fernando Pessoa Canarias, Fac Ciencias Salud, Calle Juventud S-N, Santa Maria Guia 35450, Las Palmas De G, Spain
来源
GENOME BIOLOGY | 2024年 / 25卷 / 01期
关键词
Human population genetics; Whole-genome sequences; North Africa; Demographic history; Genetic programming; Deep learning; NEOLITHIC EXPANSION; HETEROGENEITY; ADMIXTURE; GENETICS; DEMES;
D O I
10.1186/s13059-024-03341-4
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Background: North African human populations present a complex demographic scenario due to the presence of an autochthonous genetic component and population substructure, plus extensive gene flow from the Middle East, Europe, and sub-Saharan Africa. Results: We conducted a comprehensive analysis of 364 genomes to construct detailed demographic models for the North African region, encompassing its two primary ethnic groups, the Arab and Amazigh populations. This was achieved through an Approximate Bayesian Computation with Deep Learning (ABC-DL) framework and a novel algorithm called Genetic Programming for Population Genetics (GP4PG). This innovative approach enabled us to effectively model intricate demographic scenarios, utilizing a subset of 16 whole genomes at > 30X coverage. The demographic model suggested by GP4PG exhibited a closer alignment with the observed data compared to the ABC-DL model. Both point to a back-to-Africa origin of North African individuals and a close relationship with Eurasian populations. Results support different origins for Amazigh and Arab populations, with Amazigh populations originating back in Epipaleolithic times, while GP4PG supports Arabization as the main source of Middle Eastern ancestry. The GP4PG model includes population substructure in surrounding populations (sub-Saharan Africa and Middle East) with continuous decaying gene flow after population split. Contrary to ABC-DL, the best GP4PG model does not require pulses of admixture from surrounding populations into North Africa pointing to soft splits as drivers of divergence in North Africa. Conclusions: We have built a demographic model on North Africa that points to a back-to-Africa expansion and a differential origin between Arab and Amazigh populations.
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页数:23
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共 74 条
  • [1] FlashPCA2: principal component analysis of Biobank-scale genotype datasets
    Abraham, Gad
    Qiu, Yixuan
    Inouye, Michael
    [J]. BIOINFORMATICS, 2017, 33 (17) : 2776 - 2778
  • [2] Fast model-based estimation of ancestry in unrelated individuals
    Alexander, David H.
    Novembre, John
    Lange, Kenneth
    [J]. GENOME RESEARCH, 2009, 19 (09) : 1655 - 1664
  • [3] A global reference for human genetic variation
    Altshuler, David M.
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Donnelly, Peter
    Eichler, Evan E.
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Green, Eric D.
    Hurles, Matthew E.
    Knoppers, Bartha M.
    Korbel, Jan O.
    Lander, Eric S.
    Lee, Charles
    Lehrach, Hans
    Mardis, Elaine R.
    Marth, Gabor T.
    McVean, Gil A.
    Nickerson, Deborah A.
    Wang, Jun
    Wilson, Richard K.
    Boerwinkle, Eric
    Doddapaneni, Harsha
    Han, Yi
    Korchina, Viktoriya
    Kovar, Christie
    Lee, Sandra
    Muzny, Donna
    Reid, Jeffrey G.
    Zhu, Yiming
    Chang, Yuqi
    Feng, Qiang
    Fang, Xiaodong
    Guo, Xiaosen
    Jian, Min
    Jiang, Hui
    Jin, Xin
    Lan, Tianming
    Li, Guoqing
    Li, Jingxiang
    Li, Yingrui
    Liu, Shengmao
    Liu, Xiao
    Lu, Yao
    Ma, Xuedi
    Tang, Meifang
    Wang, Bo
    [J]. NATURE, 2015, 526 (7571) : 68 - +
  • [4] Dissecting human North African gene-flow into its western coastal surroundings
    Arauna, Lara R.
    Hellenthal, Garrett
    Comas, David
    [J]. PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2019, 286 (1902)
  • [5] Recent Historical Migrations Have Shaped the Gene Pool of Arabs and Berbers in North Africa
    Arauna, Lara R.
    Mendoza-Revilla, Javier
    Mas-Sandoval, Alex
    Izaabel, Hassan
    Bekada, Asmahan
    Benhamamouch, Soraya
    Fadhlaoui-Zid, Karima
    Zalloua, Pierre
    Hellenthal, Garrett
    Comas, David
    [J]. MOLECULAR BIOLOGY AND EVOLUTION, 2017, 34 (02) : 318 - 329
  • [6] pong: fast analysis and visualization of latent clusters in population genetic data
    Behr, Aaron A.
    Liu, Katherine Z.
    Liu-Fang, Gracie
    Nakka, Priyanka
    Ramachandran, Sohini
    [J]. BIOINFORMATICS, 2016, 32 (18) : 2817 - 2823
  • [7] Approximate Bayesian Computation: A Nonparametric Perspective
    Blum, Michael G. B.
    [J]. JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION, 2010, 105 (491) : 1178 - 1187
  • [8] Bosch E, 1997, HUM BIOL, V69, P295
  • [9] High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula
    Bosch, E
    Calafell, F
    Comas, D
    Oefner, PJ
    Underhill, PA
    Bertranpetit, J
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) : 1019 - 1029
  • [10] Camps G., 1994, Les Cult del Magreb, P41