Author: Bekpen, Cemalettin; Tautz, Diethard
Title: Human core duplicon gene families: game changers or game players? Document date: 2019_9_16
ID: 0fjh10v7_56
Snippet: The TBC1D3 gene family is characterized by the TBC domain, which plays a major role in endocytosis and intracellular trafficking in other proteins. TBC1D3 genes are derived from USP6NL (alias RNTRE) by segmental duplication [58] . Comparative genomic analysis suggests that TBC1D3 genes emerged before the split of new world monkeys since the macaque genome (rheMac8) includes at least five copies of TBC1D3-like genes. TBC1D3 genes are duplicated al.....
Document: The TBC1D3 gene family is characterized by the TBC domain, which plays a major role in endocytosis and intracellular trafficking in other proteins. TBC1D3 genes are derived from USP6NL (alias RNTRE) by segmental duplication [58] . Comparative genomic analysis suggests that TBC1D3 genes emerged before the split of new world monkeys since the macaque genome (rheMac8) includes at least five copies of TBC1D3-like genes. TBC1D3 genes are duplicated along human chromosome 17 in 12 copies including some processed pseudogenes [59, 60] . TBC1D3 genes show extensive CNV between different populations (10 copies in Europeans and up to 50 copies in African populations) [10] .
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