Table 2.
Examples of large-scale SVs and whole-gene CNVs exhibiting signatures of natural selection in human populations.
| Gene/locus | Region | Variant | Selection type | Category | Putative trait | References |
|---|---|---|---|---|---|---|
| GSTM1 | 1p13.3 | Deletion | Positive (East Asian) | Metabolism | Xenobiotic metabolism | (Saitou, Satta, & Gokcumen, 2018) |
| Amylase (AMY1 / AMY2) | 1p21.1 | mCNV | Positive | Diet | Adaptation to high-starch diet | (Pajic et al., 2019) |
| LCEB, LCEC | 1q21.3 | Deletion | Balancing | Immune response / Pigmentation | Psoriasis / Natural vaccination | (Pajic et al., 2016) |
| UGT2B17 | 4q13.2 | Deletion | Balancing (European); Positive (East Asian) | Metabolism | Xenobiotic metabolism | (Xue et al., 2008) |
| Glycophorin (GYPA / GYPB / GYPE) | 4q31.2 | Complex duplication (GYPB-GYPA gene fusion) | Positive (East African) | Immune response | Resistance to malaria infection | (Leffler et al., 2017) |
| TCAF1 / TCAF2 | 7q35 | Non-duplicated haplogroup | Positive (Archaics) | Diet / Thermoregulation | Unknown | (Hsieh et al., 2021) |
| ORM1 | 9q32 | “Runaway” duplication | Positive (European) | Immune response | Unknown | (Handsaker et al., 2015) |
| HERC2 | 15q13.1 | Duplication | Negative (European) | Pigmentation | Unknown | (Saitou & Gokcumen, 2019b) |
| BOLA2 | 16p11.2 | mCNV | Positive | Diet | Protection against iron deficiency | (Giannuzzi et al., 2019) |
| α-Globin (HBA1/HBA2) | 16p13.3 | Deletion | Balancing (East African) | Immune response | Resistance to malaria infection | (Williams et al., 2005) |
| HPR | 16q22.2 | “Runaway” duplication | Positive (African) | Immune response | Resistance to trypanosomiasis infection | (Handsaker et al., 2015; Hardwick et al., 2014) |
| KANSL1 | 17q21.31 | Inversion, duplication | Positive (European) | Fecundity | Increased fertility | (Stefansson et al., 2005) |
| SIGLEC14 / SIGLEC5 | 19q13.41 | Deletion (gene fusion) | Positive | Immune response | Reduced risk of chronic obstructive pulmonary disease | (Angata et al., 2013; Yamanaka, Kato, Angata, & Narimatsu, 2009) |
| GSTT1 / GSTT1P1 | 22q11.23 | Deletion (gene fusion) | Balancing (African) | Diet | Xenobiotic metabolism | (Lin, Pavlidis, Karakoc, Ajay, & Gokcumen, 2015) |
| APOBEC3B | 22q13.1 | Deletion | Positive | Immune response | Unknown | (Kidd, Newman, Tuzun, Kaul, & Eichler, 2007) |