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Vol. 9, Issue 11, 1048-1058, November 1999

CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome

Evan E. Eichler,1,3 Nicoletta Archidiacono,2 and Mariano Rocchi2

1 Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106 USA; 2 Instituto di Genetica, Via Amendola 165/A, 70126 Bari, Italy

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 (~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

3 Corresponding author.

9:1048-1058 ©1999 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/99 $5.00
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