Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

摘要: Human chromosome 2 was formed by the head-to-head fusion of two ancestral chromosomes that remained separate in other primates. Sequences once resided near ends are now interstitially located 2q13-2q14.1. Portions these sequences had duplicated to locations prior fusion. Here we present analyses genomic structure and evolutionary history >600 kb surrounding site closely related on human chromosomes. Sequence blocks flank inverted arrays degenerate telomere repeats marking at many, primarily subtelomeric, locations. In addition, large portions a 168-kb centromere-proximal block 9pter, 9p11.2, 9q13, with 98%-99% average sequence identity. A 67-kb distal side is highly homologous 22qter. third ~100-kb segment 96% identical region 2q11.2. By integrating data extent similarity paralogous blocks, including presence phylogenetically informative repetitive elements, observations their chromosomal distribution nonhuman primates, infer order duplications led current arrangement. Several may be associated breakpoints inversions occurred during primate evolution recurrent rearrangements humans.