Figure 5. Model of chromosomal 15q13.3 evolution.
Based on comparisons to outgroup primates, we propose a simpler human ancestral organization (Hα1)—a configuration that is found enriched in contemporary African populations. A 510 kbp duplicative transposition from BP5 to BP4 (α and β duplications) occurred potentially in a palindromic configuration (Hα2), followed by an inversion of β at BP4 (Hα2βinv) between 700–900 thousand years ago. NAHR within BP5 leads to tandemization of the 510 kbp duplication (Hα3) and larger configurations primarily in East Asian populations. Approximately 500 thousand years ago, the 1.8 Mbp γ inversion independently rearranged to the Hα1γinv inverted haplotype.