Table 3.
Gene family name | Representative gene | Gene info | Evidence of positive selection | Gene expression | Estimated human copy number | Chromosome | Comment | Reference |
---|---|---|---|---|---|---|---|---|
Morpheus | NPIP | Nuclear pore complex interacting protein | ++ | Widely expressed | 18 | 16 | 50X dN/dS | (79) |
DUF1220 (NBPF) | NBPF11 | Neuroblastoma breakpoint family, member 11 | + (but see 155) | Neurons (among other tissues) | 11 | 1 | Expressed in neurons | (124, 155) |
RGP | RANBP2 | RAN binding protein 2 | + | Testis/cortex | 8 | 2 | Positive selection | (30) |
LRRC37 | LRRC37 | Leucine-rich repeat containing 37 | Unknown | Ubiquitous | 3 | 17 | (77) | |
TBC1D3 | TRE2/USP6 | Biquitin-specific protease 6 | Unknown | Testis | 4 | 17 | Result of a recent evolutionary fusion of two other genes—TBC1D3 and USP32 | (119) |
Examples of gene families embedded in “core” duplicon (77) that have been greatly duplicated specifically in great apes (NPIP, RANBP2, TRE2, NBPF11) or in primates (LRRC37). Evidence of positive selection as well as information on the gene function and expression or the estimated copy number in human (according to the number of WGS reads mapping to the region) is also provided.