Table 3. Polymorphisms for which the high-risk gene variant was observed in both Neanderthal and Denisovan.
Column headers and cell shading as for Table 1. Ancestral variants in the ancient hominin and human lineages are indicated by a thick-lined black box.
| 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) | |||||||||||||
| AHR1 | Regulation | -4) | p.Val381Ala4) | T | C | C | C | C | C | T | ─ | T | T | T | A5) | T | ─ | ||||
| CYP1A1 | Detox 1 | rs4646421 | c.-26-728C>T | T | C | C | C | C | C | C | T | T | C | C | C | T | C | T | |||
| NAT1 | Detox 2 | rs15561 | c.*222A>C | C | A | A | A | A | A | C | A | C | A | C | A | C | C | ─ | |||
| SULT1A1 | Detox 2 | rs9282861 | p.Arg213His | A | G | G | G | G | G | G | ─ | ─ | G | ─ | G | G | |||||
| UGT1A7 | Detox 2 | rs17868323/rs17863778/rs17868324 | T387G/C391A/G392A6) | T/C/G | G/A/A | G/A/A | G/A/A | G/A/A | G/A/A | G/A/A | G/A/A | T/C/G | G/A/A | ─ | G/A/A | ─ | |||||
| rs11692021 | p.Trp208Arg | T | C | C | C | T | T | T | C | C | T | C | T | T | C | T | |||||
| HIF1A1 | Anti-ox | rs2301113 | c.1609-675C>A | A | C | C | C | C | T | C | A | A | C | A | A | A | C | A | |||
1. Detox 1 = Detoxification phase 1; Detox 2 = Detoxification phase 2; Anti-ox = Oxidative stress management; Regulation = Regulation of detoxification gene expression.
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) Up to now only the AHR protein variant with Val at position381 has been observed in present-day humans and its risk-evaluation is based on laboratory animal data. No RefSNP code available.
5) On this position of the Saqqaq genome one A read was observed, which was however of comparable quality as the two T reads on this position.
6) HGVS nomenclature: p.Asn129Lys / p.Arg131 = / p.Arg131Gln.