 | Julius Mulindwa, Harry Noyes, Hamidou Ilboudo, Luca Pagani, Oscar Nyangiri, Magambo Phillip Kimuda, Bernardin Ahouty, Olivier Fataki Asina, Elvis Ofon, Kelita Kamoto, Justin Windingoudi Kabore, Mathurin Koffi, Dieudonne Mumba Ngoyi, Gustave Simo, John Chisi, Issa Sidibe, John Enyaru, Martin Simuunza, Pius Alibu, Vincent Jamonneau, Mamadou Camara, Andy Tait, Neil Hall, Bruno Bucheton, Annette MacLeod, Christiane Hertz-Fowler, Enock Matovu High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation. Journal Article In: American journal of human genetics, vol. 107, iss. 3, pp. 473-486, 2020, ISSN: 1537-6605 0002-9297. @article{nokey,
title = {High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.},
author = {Julius Mulindwa and Harry Noyes and Hamidou Ilboudo and Luca Pagani and Oscar Nyangiri and Magambo Phillip Kimuda and Bernardin Ahouty and Olivier Fataki Asina and Elvis Ofon and Kelita Kamoto and Justin Windingoudi Kabore and Mathurin Koffi and Dieudonne Mumba Ngoyi and Gustave Simo and John Chisi and Issa Sidibe and John Enyaru and Martin Simuunza and Pius Alibu and Vincent Jamonneau and Mamadou Camara and Andy Tait and Neil Hall and Bruno Bucheton and Annette MacLeod and Christiane Hertz-Fowler and Enock Matovu},
doi = {10.1016/j.ajhg.2020.07.007},
issn = {1537-6605 0002-9297},
year = {2020},
date = {2020-09-01},
urldate = {2020-09-01},
journal = {American journal of human genetics},
volume = {107},
issue = {3},
pages = {473-486},
abstract = {Africa contains more human genetic variation than any other continent, but the majority of the population-scale analyses of the African peoples have focused on just two of the four major linguistic groups, the Niger-Congo and Afro-Asiatic, leaving the Nilo-Saharan and Khoisan populations under-represented. In order to assess genetic variation and signatures of selection within a Nilo-Saharan population and between the Nilo-Saharan and Niger-Congo and Afro-Asiatic, we sequenced 50 genomes from the Nilo-Saharan Lugbara population of North-West Uganda and 250 genomes from 6 previously unsequenced Niger-Congo populations. We compared these data to data from a further 16 Eurasian and African populations including the Gumuz, another putative Nilo-Saharan population from Ethiopia. Of the 21 million variants identified in the Nilo-Saharan population, 3.57 million (17%) were not represented in dbSNP and included predicted non-synonymous mutations with possible phenotypic effects. We found greater genetic differentiation between the Nilo-Saharan Lugbara and Gumuz populations than between any two Afro-Asiatic or Niger-Congo populations. F3 tests showed that Gumuz contributed a genetic component to most Niger-Congo B populations whereas Lugabara did not. We scanned the genomes of the Lugbara for evidence of selective sweeps. We found selective sweeps at four loci (SLC24A5, SNX13, TYRP1, and UVRAG) associated with skin pigmentation, three of which already have been reported to be under selection. These selective sweeps point toward adaptations to the intense UV radiation of the Sahel.},
keywords = {*Nilo-Saharan, *population genetic variation, *signatures of selection, Adaptation, Antiporters/genetics, Blacks/genetics, Data Management, Ethiopia/epidemiology, Female, Genetic Variation/*genetics, Genetic/*genetics, Genetics, Genome, Haplotypes/genetics, Human/genetics, Humans, Male, Membrane Glycoproteins/genetics, Oxidoreductases/genetics, Physiological/*genetics, Polymorphism, Population, Selection, Single Nucleotide/genetics, Skin Pigmentation/*genetics, Sorting Nexins/genetics, Tumor Suppressor Proteins/genetics, Uganda/epidemiology},
pubstate = {published},
tppubtype = {article}
}
Africa contains more human genetic variation than any other continent, but the majority of the population-scale analyses of the African peoples have focused on just two of the four major linguistic groups, the Niger-Congo and Afro-Asiatic, leaving the Nilo-Saharan and Khoisan populations under-represented. In order to assess genetic variation and signatures of selection within a Nilo-Saharan population and between the Nilo-Saharan and Niger-Congo and Afro-Asiatic, we sequenced 50 genomes from the Nilo-Saharan Lugbara population of North-West Uganda and 250 genomes from 6 previously unsequenced Niger-Congo populations. We compared these data to data from a further 16 Eurasian and African populations including the Gumuz, another putative Nilo-Saharan population from Ethiopia. Of the 21 million variants identified in the Nilo-Saharan population, 3.57 million (17%) were not represented in dbSNP and included predicted non-synonymous mutations with possible phenotypic effects. We found greater genetic differentiation between the Nilo-Saharan Lugbara and Gumuz populations than between any two Afro-Asiatic or Niger-Congo populations. F3 tests showed that Gumuz contributed a genetic component to most Niger-Congo B populations whereas Lugabara did not. We scanned the genomes of the Lugbara for evidence of selective sweeps. We found selective sweeps at four loci (SLC24A5, SNX13, TYRP1, and UVRAG) associated with skin pigmentation, three of which already have been reported to be under selection. These selective sweeps point toward adaptations to the intense UV radiation of the Sahel. |
