Table 1 Segregating sites identified in the three NAT gene paralogs shared among different (sub-)species of hominidsa.
GeneHomoGorillacPongodPane
Ancient genomes
Position in human reference sequencebHuman cdsSNP rs identifierAlleles (amino acid change if non-synonymous)Homo sapiensUst’IshimAltaiVindijaDenisovaGorilla gorillaGorilla beringeiPongo abeliiPongo pygmaeusP. t. verusP. t. elliotiP. t. troglodytesP. t. schweinfurthiiPan paniscus
NAT1
Total sample sizef33312572105614
18080001445rs4987076A/G (I149V)
18080015459rs4986990G/A
18080196640rs4986783G/T (A214S)
NAT2
Total sample sizef32312572105614
18257704191rs1801279G/A (R64Q)TT
18257795282rs1041983C/T
18257858345rs45532639C/TAAAAA
18258019506rs200585149A/G (Y169C)
18258091578rs79050330C/T (T193M)
NATP
Total sample sizef32313575105614
18228246rs73590295T/C
18228285T/A
18228458rs372738250G/A
18228616rs35548819T/C
18228661rs546009408G/A
18228673rs115350875T/C
18228727rs530022558G/A
18228959T/C
18229104rs74444655T/C
  • a Boxes shaded in light gray indicate the presence of the polymorphism in the relevant species/sub-species and those shaded in dark gray indicate fixation (detection for ancient genomes) of the derived allele in the species (if different from the human derived allele, the allele is indicated in the box).

  • b The screened segments for the NAT1, NAT2 and NATP homologous sequences span from 18’079’545 to 18’080’447 (903 bp including the NAT1 coding exon), 18’257’489 to 18’258’603 (1,115 bp including the NAT2 coding exon) and 18’228’116 to 18’229’117 (1,002 bp including the NATP pseudogene) respectively, on chromosome 8 in the human reference sequence GRCh37/hg19. Non-synonymous mutations are shown in bold type.

  • c Based on the individuals of this study, the gorillas of Prado-Martinez et al. (2013) and the Gorilla gorilla gorilla draft assembly reference sequence (gorGor4, December 2014).

  • d Based on the individuals of this study, the orangutans of Prado-Martinez et al. (2013) and the Pongo pygmaeus abelii draft assembly reference sequence (ponAbe2, July 2007).

  • e Polymorphism recording is based on the chimpanzee and bonobo individuals of the present study and those of Prado-Martinez et al. (2013), cross-checked with the Pan troglodytes verus assembly reference sequence (panTro4, February 2011) and the Pan paniscus draft assembly reference sequence (panPan1, May 2012).

  • f Total number of genotypes, including genotypes of individuals deduced from their descendants (see Supplementary Figure S1A and Supplementary File S1).