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LETTER

Segmental Duplications in Euchromatic Regions of Human Chromosome 5: A Source of Evolutionary Instability and Transcriptional Innovation

¹Institut de Pharmacologie Moléculaire et Cellulaire Unité Mixte de Recherche-Centre National de la Recherche Scientifique, 06560 Valbonne, France; ²Unité Mixte de Recherche-Centre National de la Recherche Scientifique,75231 Paris cedex 05, France; ³Université Versailles-Saint-Quentin, 78035 Versailles, France;⁴ Unité Mixte de Recherche-Centre National de la Recherche Scientifique, 6549, Faculté de Médecine, 06107 Nice cedex 2, France

Recent analyses of the structure of pericentromeric and subtelomeric regions have revealed that these particular regions of human chromosomes are often composed of blocks of duplicated genomic segments that have been associated with rapid evolutionary turnover among the genomes of closely related primates. In the present study, we show that euchromatic regions of human chromosome 5—5p14, 5p13, 5q13, 5q15–5q21—also display such an accumulation of segmental duplications. The structure, organization and evolution of those primate-specific sequences were studied in detail by combining in silico and comparative FISH analyses on human, chimpanzee, gorilla, orangutang, macaca, and capuchin chromosomes. Our results lend support to a two-step model of transposition duplication in the euchromatic regions, with a founder insertional event at the time of divergence between Platyrrhini and Catarrhini (25–35 million years ago) and an apparent burst of inter- and intrachromosomal duplications in the Hominidae lineage. Furthermore, phylogenetic analysis suggests that the chronology and, likely, molecular mechanisms, differ regarding the region of primary insertion—euchromatic versus pericentromeric regions. Lastly, we show that as their counterparts located near the heterochromatic region, the euchromatic segmental duplications have consistently reshaped their region of insertion during primate evolution, creating putative mosaic genes, and they are obvious candidates for causing ectopic rearrangements that have contributed to evolutionary/genomic instability.

[Supplemental material is available online at www.genome.org. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: D. Le Paslier, A. McKenzie, J. Melki, C. Sargent, J. Scharf and S. Selig.]

⁶ Genomic Core Laboratory, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA.

Present addresses:

⁷ Corresponding author.

E-MAIL nahonjl{at}ipmc.cnrs.fr; FAX 33-493-957-708.

Article and publication are at http://www.genome.org/cgi/doi/10.1101/gr.490303. Article published online before print in February 2003.

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