genes showing lineage-specific variation in copy number
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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.
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Additional terms
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/15252450