TY  - JOUR
SP  - 473
IS  - 3
EP  - 486
PB  - Elsevier (Cell Press)
TI  - High levels of genetic diversity within Nilo-Saharan populations: implications for human adaptation
JF  - American Journal of Human Genetics
A1  - Mulindwa, Julius
A1  - Noyes, Harry
A1  - Ilboudo, Hamidou
A1  - Pagani, Luca
A1  - Nyangiri, Oscar
A1  - Kimuda, Magambo Phillip
A1  - Ahouty, Bernardin
A1  - Asina, Olivier Fataki
A1  - Ofon, Elvis
A1  - Kamoto, Kelita
A1  - Kabore, Justin Windingoudi
A1  - Koffi, Mathurin
A1  - Ngoyi, Dieudonne Mumba
A1  - Simo, Gustave
A1  - Chisi, John
A1  - Sidibe, Issa
A1  - Enyaru, John
A1  - Simuunza, Martin
A1  - Alibu, Pius
A1  - Jamonneau, Vincent
A1  - Camara, Mamadou
A1  - Tait, Andy
A1  - Hall, Neil
A1  - Bucheton, Bruno
A1  - MacLeod, Annette
A1  - Hertz-Fowler, Chrstiane
A1  - Matovu, Enock
ID  - enlighten221221
UR  - https://eprints.gla.ac.uk/221221/
N2  - 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.
AV  - public
Y1  - 2020/09/03/
N1  - This study was funded by the African Academy of Sciences/Wellcome project ID H3A/18/004 as part of the H3Africa consortia.
SN  - 0002-9297
VL  - 107
ER  -