Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Pangenomic characterization and expression of TBC1D3 in humans. (A) Maximum likelihood phylogeny of all validated TBC1D3 cluster 1 and 2 paralogs in humans, outgrouped to chimpanzee TBC1D3. Individual cluster paralogs were identified by limiting intra-cluster variation to a 1.5× allelic variation observed in SD sequence. This resulted in a gene family of 11 common paralogs. (B) Inversion haplotype of HG01109 hap2 (bottom) aligned to CHM13 (top). (C) Visual illustration of CHM13 clusters 1 and 2 with new paralog characterization, as well as expression of these paralogs across iPSCs and fetal brain Iso-Seq libraries, normalized to median haplotype paralog copy number.