Table 2. Polymorphisms for which the low-risk gene variant observed in Neanderthal and/or Denisovan is a derived allele.
Column headers and cell shading as for Table 1.
| Gene | Function1) | Extant Humans | AncientHominins | Great Apes | Modern Humans | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polymorphism2) | Low3) | High3) | Nea | Den | Chimp | Gor | Ust'-Ishim | MA-1 | Anzick-1 | NE1 | Saqqaq | BR2 | Aus | |||||||||
| RefSNP Number | HGVS Name2) | (45 kya) | (24 kya) | (12 kya) | (7.2 kya) | (3.9 kya) | (3.2 kya) | (0.1 kya) | ||||||||||||||
| EPHX1 | Detox 1 | rs2234922 | p.His139Arg | A | G | A | A | G | G | A | ─ | A | A | A | G | A | G | |||||
| GSTP1 | Detox 2 | rs1695 | p.Ile105Val | A | G | A4) | G | A | G | G | A | G | A | A | G | G | A | A | A | |||
| ERCC1 | Repair | rs3212986 | c.*197G>T | G | T | G | G | T | T | G | G | G | G | T | G | T | G | G | ||||
1. Detox 1 = Detoxification phase 1; Detox 2 = Detoxification phase 2; Repair = Repair of DNA damage.
2. SNP nomenclature as recommended by the Human Genome Variation Society (HGVS) (http://www.hgvs.org/mutnomen/recs.html).
3. Allele associated with a relatively low-risk, respectively, high-risk of adverse reproduction effects based on epidemiological or biochemical studies (details in S1 Text of the Supporting Information).
4) Neanderthal individual Vi33.26 is possibly heterozygous low-/high-risk (A/G) based on a single, high-quality read of each type; the high-coverage Altai Neanderthal and possibly Vi33.25 (one high-quality G read) are homozygous for the high-risk G allele.