Skip to main content

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

Gene Chr Gene description GO molecular function/GO biological process Genetic ancestry iHS GTEx testis tissue
MORC1 3 MORC family CW-type zinc finger 1 DNA methylation involved in gamete generation GO:0043046
Zinc ion binding GO:0008270
Spermatogenesis GO:0007283
DNA hypermethylation GO:0044026
AFR rs12695191: 3.7
SLC9B1 4 Solute carrier family 9 member B1 Flagellated sperm motility GO:0030317 AFR rs3974604: 4.1 sQTL
Proton transmembrane transport GO:1902600 EUR rs11722779: −4.0
Regulation of intracellular pH GO:0051453 SAS rs11722779: −3.9 sQTL
Single fertilization GO:0007338 EAS rs11722779: −3.5
Sodium ion transmembrane transport GO:0035725
ROPN1L 5 Rhophilin associated tail protein 1 like cilium movement GO:0003341
flagellated sperm motility GO:0030317
sperm capacitation GO:0048240
EAS rs2673855: −2.8
DMRT1 9 Doublesex and mab-3 related transcription factor 1 Transcription 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
PLCZ1 12 Phospholipase C zeta 1 Phosphatidylinositol 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
RNF17 13 Ring finger protein 17 Metal ion binding GO:0046872
Spermatid development GO:0007286
AFR rs71431709: 2.7 sQTL
FAM71D 14 Family with sequence similarity 71 member D No data available EUR rs10431714: −3.4
WBP2NL 22 WBP2 N-terminal like Chromatin 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
AFR rs57796605: 3.0