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Table 2 Human testis-enriched genes under positive selection detected in different human populations and genetic ancestries. Given are the SNPs with the highest iHS values, gene ontology (GO) terms and available QTL information (from the Genotype-Tissue Expression (GTX) database)

From: Population-specific, recent positive directional selection suggests adaptation of human male reproductive genes to different environmental conditions

GeneChrGene descriptionGO molecular function/GO biological processGenetic ancestryiHSGTEx testis tissue
MORC13MORC family CW-type zinc finger 1DNA methylation involved in gamete generation GO:0043046
Zinc ion binding GO:0008270
Spermatogenesis GO:0007283
DNA hypermethylation GO:0044026
AFRrs12695191: 3.7
SLC9B14Solute carrier family 9 member B1Flagellated sperm motility GO:0030317AFRrs3974604: 4.1sQTL
Proton transmembrane transport GO:1902600EURrs11722779: −4.0
Regulation of intracellular pH GO:0051453SASrs11722779: −3.9sQTL
Single fertilization GO:0007338EASrs11722779: −3.5
Sodium ion transmembrane transport GO:0035725
ROPN1L5Rhophilin associated tail protein 1 likecilium movement GO:0003341
flagellated sperm motility GO:0030317
sperm capacitation GO:0048240
EASrs2673855: −2.8
DMRT19Doublesex and mab-3 related transcription factor 1Transcription regulator activity GO:0140110
Sex determination GO:0007530
Developmental process involved in reproduction GO:0003006
Gamete generation GO:0007276
EUR
SAS
rs166790: −3.4
rs166790: −3.1
PLCZ112Phospholipase C zeta 1Phosphatidylinositol phospholipase C activity GO:0004435
Phosphatidylinositol-3-phosphate binding GO:0032266
Egg activation GO:0007343
Positive regulation of cytosolic calcium ion concentration involved in egg activation GO:0060470
EUR
SAS
rs10459068: −2.7
rs10459068: −2.7
eQTL
RNF1713Ring finger protein 17Metal ion binding GO:0046872
Spermatid development GO:0007286
AFRrs71431709: 2.7sQTL
FAM71D14Family with sequence similarity 71 member DNo data availableEURrs10431714: −3.4
WBP2NL22WBP2 N-terminal likeChromatin DNA binding GO:0031490
WW domain binding GO:0050699
Transcription coactivator activity GO:0003713
Meiotic cell cycle GO:0051321
female pronucleus assembly GO:0035038
male pronucleus assembly GO:0035039
AFRrs57796605: 3.0