Table 1 Significantly enriched GO terms in the top empirical 0.1% of windows in each population
PopulationStatisticGO termName of GO termP-valueWindowsGenes
Biaka PygmyXP-EHH CEUGO:0045893Positive regulation of transcription, DNA-dependent0.00028TGFB1I1, TCF3, PCBD2, NSD1, TFEB, FOXK1, CREB5, SMARCD3
XP-EHH KHBGO:0006412Translation0.010353AC107956.8, EIF4A1, AL121593.10
Mbuti PygmyXP-EHH CEUGO:0006366 (P)Transcription from RNA polymerase II promoter0.000853HLF, NFIX, NFKB1
XP-EHH CEUGO:0007186G-protein coupled receptor protein signaling pathway0.020154CENTD2, NFIX, GPR35, NFKB1
XP-EHH MKKGO:0006817Phosphate transport0.00672COL9A3, COL6A1
SandaweXP-EHH YRIGO:0007596Blood coagulation0.011852ADORA2A, IL22RA2
XP-EHH KHBGO:0046058cAMP metabolic process0.00012PTH, PTHLH
Namibian SanXP-EHH CEUGO:0042981Regulation of apoptosis0.007752TNFSF5IP1, MALT1
XP-EHH YRIGO:0006916Anti-apoptosis0.01352MALT1, YWHAZ
XP-EHH YRIGO:0006754ATP biosynthetic process0.00022ATP5B, SLC25A13, ATP6V1B2
XP-EHH MKKGO:0001764Neuron migration0.005252ITGA3, NTN1, MYH10, PAFAH1B1, YWHAE, CDK5R1, RELN, TWIST1
XP-EHH MKKGO:0030036Actin cytoskeleton organization0.015552CAP1, CRK
XP-EHH MKKGO:0007420Brain development0.009052PPT1, RELN
≠Khomani BushmenXP-EHH YRIGO:0043687Post-translational protein modification0.001352UBE2L3, UBE2E2
XP-EHH YRIGO:0051246Regulation of protein metabolic process0.001352UBE2L3, UBE2E2
XP-EHH YRIGO:0006457Protein folding0.01432DNAJC1, PPIL2
XP-EHH YRIGO:0006512Ubiquitin cycle0.01933HECW2, UBE2L3, UBE2E2
SA BantuXP-EHH MKKGO:00006814Sodium ion transport0.019052SLC4A5, ACCN5
MaasaiiHSGO:0009615Response to virus0.002252CREBZF, IFNA5
iHSGO:0007584Response to nutrient0.00142LCT, UGT1A8
iHSGO:0042493Response to drug0.003752LCT, UGT1A8
XP-EHH YRIGO:0006487Protein N-linked glycosylation0.000452MGAT5, KEL
  • Significance determined as described in Materials and Methods and Figure 1, using an FDR cutoff of 0.05, within each population. A population is not shown if no terms were significantly enriched (i.e., the Hadza and Kenyan Bantu). The Statistic column indicates the statistic resulting in significance. Next to a GO term, (P) indicates that the term was significant only when examining the PANTHER subset of terms; if nothing is next to the term, it indicates significance only when all GO terms were examined. We count the number of windows in the 0.1% empirical tail to which each term was associated (Windows column); rather than reporting those windows, we report the genes within those windows that were associated with the given GO term (in the Genes column).