作者: Michelle M. Skelton , Elizabeth E. Kampira , Ambroise A. Wonkam , Kudakwashe K. Mhandire , Johnstone J. Kumwenda
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摘要: Abstract The present study reports promoter variants in four sub-Saharan African populations that may affect BST-2 gene regulation. Recently, an in/del within the has been associated with HIV-1 disease progression a Spanish cohort. Hence, we sequenced proximal region of 581 individuals from South Africa, Zimbabwe, Malawi, and Cameroon. Seven SNPs were identified: rs28413176 (+26i6/Δ6); rs28413175 (-160i1/Δ1), -187A>G (nucleotide position -17516614); rs28413174 (-193G>A); rs73921425 (-199G>A); rs12609479 (-201C>T); rs112492472 (-225C>T). -199A -225T alleles showed interesting trends across continent. Using predictive bioinformatics tools, show allelic variation at -199 -201 potentially key transcription factor binding sites including bHLH, c-Myb, E47. Importantly, data available ENCODE gave further credence to our hypothesis transcriptional regulation by bHLH TF such as Mxi1. The...