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)
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 | – |