Genes Showing Human Lineage Specific Variation In Copy Number

Introduction

140 genes show lineage-specific variation in copy number when when the human genome is compared with the genomes of the great apes ( chimpanzee, bonobo, gorilla, orangutan). Of those 140, 134 represent increases, 6 decreases in copy number. Roughly 1/2 of these genes represent expressed sequence tags ( EST). The remainder were known genes including:
NAIP ( neuronal apoptosis inhibitory protein)
SLC6A13 (Na+/Cl- dependent GABA transporter 2)
CHRFAM7A ( CHRNA7 - FAM7A) fusion gene
PAK2 ( p21-activated kinase 2)
SRGAP2 ( SLIT-ROBO Rho GTPase activating protein 2)
ARHGEF5 ( rho guanine nucleotide exchange factor 5)
ROCK1 ( rho-associated coiled-coil-containing protein kinase 1)
USP10 ( ubiquitin-specific protease-10)
AQP7 ( aquaporin 7)

These genes may play a major role in the divergence of humans from apes, and the evolution of longevity & intelligence.
Gene duplication through homologous recombination is thought to be a mechanism for this gene duplication.

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour- Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol. 2004 Jul;2(7):E207. Epub 2004 Jul 13. PMID: [1]