title: CAGGG repeats and the pericentromeric duplication of the hominoid genome.
abstract: Gene duplication is one of the primary forces of evolutionary change. We present data from three different pericentromeric regions of human chromosomes, which indicate that such regions of the genome have been sites of recent genomic duplication. This form of duplication has involved the evolutionary movement of segments of genomic material, including both intronic and exonic sequence, from diverse regions of the genome toward the pericentromeric regions. Sequence analyses of the target sites of duplication have identified a novel class of interspersed GC-rich repeats located precisely at the boundaries of duplication. Estimates of the evolutionary age of these duplications indicate that they have occurred between 10 and 25 mya. In contrast, comparative analyses confirm that the GC-rich pericentromeric repeats have existed within the pericentromeric regions of primate chromosomes before the divergence of the cercopithecoid and hominoid lineages ( approximately 30 mya). These data provide molecular evidence for considerable interchromosomal duplication of genic segments during the evolution of the hominoid genome and strongly implicate GC-rich repeat elements as playing a direct role in the pericentromeric localization of these events
authors.affiliation: Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA. eee@po.cwru.edu
authors.forename: E E
authors.initials: EE
authors.lastname: Eichler
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D000818:Animals; D001483:Base Sequence; D002503:Centromere; D002878:Chromosomes, Human, Pair 1; D002879:Chromosomes, Human, Pair 10; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002885:Chromosomes, Human, Pair 16; D002889:Chromosomes, Human, Pair 2; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D019143:Evolution, Molecular; D020440:Gene Duplication; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D014960:X Chromosome