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. Author manuscript; available in PMC: 2019 Jul 29.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2009;10:355–386. doi: 10.1146/annurev.genom.9.081307.164420

Table 3.

Great ape and human gene family expansions1

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)
1

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.