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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

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