title: Recurrent duplication-driven transposition of DNA during hominoid evolution.
abstract: The underlying mechanism by which the interspersed pattern of human segmental duplications has evolved is unknown. Based on a comparative analysis of primate genomes, we show that a particular segmental duplication (LCR16a) has been the source locus for the formation of the majority of intrachromosomal duplications blocks on human chromosome 16. We provide evidence that this particular segment has been active independently in each great ape and human lineage at different points during evolution. Euchromatic sequence that flanks sites of LCR16a integration are frequently lineage-specific duplications. This process has mobilized duplication blocks (15-200 kb in size) to new genomic locations in each species. Breakpoint analysis of lineage-specific insertions suggests coordinated deletion of repeat-rich DNA at the target site, in some cases deleting genes in that species. Our data support a model of duplication where the probability that a segment of DNA becomes duplicated is determined by its proximity to core duplicons, such as LCR16a.
authors.affiliation: Department of Genome Sciences and the Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Johnson
authors.forename: Ze
authors.initials: Z
authors.lastname: Cheng
authors.forename: V Anne
authors.initials: VA
authors.lastname: Morrison
authors.forename: Steven
authors.initials: S
authors.lastname: Scherer
authors.forename: Mario
authors.initials: M
authors.lastname: Ventura
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gibbs
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D002885:Chromosomes, Human, Pair 16; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D004251:DNA Transposable Elements; D019143:Evolution, Molecular; D020440:Gene Duplication; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D004251:DNA Transposable Elements; D004247:DNA