Table 2 Segregating sites identified in the three NAT gene paralogs in the different (sub-)species of the genus Pan, with paralogous positions in humans shown in the three last columnsa.
GenePan species/sub-species
Position in human reference sequencebAlleles (amino acid change if non-synonymous)P. troglodytes (common chimpanzee)cP. paniscus (bonobo)eHomo sapiens
P. t. verus (Western)P. t. ellioti (Nigeria-Cameroon)P. t. troglodytes (Central)P. t. schweinfurthii (Eastern)HybriddHuman cdsFixed positionVariable position (SNP rs identifier in Ensembl)f
NAT1
          Pan total sample sizeg721056114
18079632G/A (D26N)76G
18079703C/T147C
18079859C/T303C
18079897T/C (I114T)341T/A/C (rs145975713)
18079925T/C369T
18080014C/T458C/T (rs374226986)
18080074A/C (E173A)518A
18080153T/G (I199M)597T
18080316G/C (E254Q)760G
18080345A/G (I263M)789A
NAT2
          Pan total sample sizeg721056114
18257549T/C36T
18257585A/C (L24F)72A
18257658G/A (E49K)145G
18257704G/A (R64Q)191G/A (rs1801279)
18258027A/G (N172D)514A
18258091C/T (T193M)578C/T (rs79050330)
18258302G/T789T
18258447G/A934hG
18258462C/G949hC
NATP
          Pan total sample sizeg751056114
18228146G/TG
18228189C/TC
18228238A/GA
18228242A/GA
18228285iT/ANNT/A
18228304C/TC
18228368T/CT
18228404C/TC
18228501C/TC
18228543A/GA
18228560C/AC
18228582G/TG
18228614G/TG
18228659G/AG
18228660C/TG
18228661G/AG/A (rs546009408)
18228748C/TT
18228771C/TT
18228959T/CT
18229057G/AC
18229103A/TA
  • a Boxes shaded in light gray indicate the presence of the polymorphism in the relevant Pan species/sub-species and those shaded in dark gray indicate a fixation of the derived allele in the Bonobo species.

  • 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 Polymorphism recording is based on the individuals of the present study and the chimpanzees of Prado-Martinez et al. (2013) cross-checked with the Pan troglodytes verus assembly reference sequence (panTro4, February 2011).

  • d Hybrid Western (P. t. verus) / Central (P. t. troglodytes) individual.

  • e Based on the individual of this study (Bonobo), the bonobos of Prado-Martinez et al. (2013) and the Pan paniscus draft assembly reference sequence (panPan1, May 2012).

  • f With the exception of human NAT2 polymorphisms rs1801279 (G/A at cds position 191) and rs79050330 (C/T at cds position 578), which are common variants in humans, all other human polymorphisms, including those with a SNP rs identifier, are rare variants, detected with a highest population MAF < 0.01 in Ensembl (http://www.ensembl.org/Homo_sapiens/Info/Index).

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

  • h Non-coding positions downstream of NAT2 coding exon (3′UTR region).

  • i Undefined position in some Nigeria-Cameroun and Eastern chimpanzee samples (indicated by N, see Supplementary Table S5). The human T/A SNP at position 18’228’285, at present only described in Mortensen et al. (2011) at very low frequency, is not reported in Ensembl; we note that Ensembl reports another rare T/A SNP, with associated SNP identifier rs546046491, in the next contiguous position (18’228’286), and both variants are embedded in a stretch of T nucleotides on the human reference sequence (from 18’228’278 to 18’228’286).