Table 1.
Human-unique changes of Siglec genes
Siglec gene | Human-unique allele/state | Modern human | Archaic human* | Great apes | Ref |
---|---|---|---|---|---|
CD33 | rs12459419(T) rs3865444(A) | Present (minor allele) | Absent | Absent | (Schwarz et al., 2016) |
c.61T (p.Phe21) | Fixed (100%) | Fixed (100%) | Absent | (Saha et al., 2022) | |
SIGLEC5 | Intact essential Arg | Fixed (100%) | Fixed (100%) | Polymorphic | (Angata et al., 2006) |
SIGLEC12 | Essential Arg mutated to Cys | Fixed (100%) | Fixed (100%) | Absent | (Angata et al., 2001c; Khan et al., 2020a; Mitra et al., 2011) |
rs66949844(dupC) frameshift | Present (major allele) | Present (major allele) | Absent | (Khan et al., 2020a; Mitra et al., 2011). | |
rs16982743(A) stop codon | Present (minor allele) | Present (major allele) | Absent | (Khan et al., 2020a). | |
SIGLEC13 | Deletion | Fixed (100%) | Fixed (100%) | Absent (i.e., functional gene is present) | (Angata et al., 2004; Wang et al., 2012b) |
SIGLEC14 | Intact essential Arg | Fixed (100%) | Fixed (100%) | Polymorphic | (Angata et al., 2006) |
SIGLEC16 | rs12611411(T) rs12984584(C)** | Present (major allele) | Present (major allele) | Absent | (Wang et al., 2012a) |
Modified from (Khan et al., 2020a).
Neandertal (n = 6) and Denisovan (n = 2).
These SNPs are in linkage disequilibrium with an indel polymorphism causing frameshift in open reading frame of SIGLEC16.