Hominoid fission of chromosome 14/15 and the role of segmental duplications
- Giuliana Giannuzzi1,4,6,
- Michele Pazienza1,
- John Huddleston2,
- Francesca Antonacci2,5,
- Maika Malig2,
- Laura Vives2,
- Evan E. Eichler2,3 and
- Mario Ventura1,2,6
- 1Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro,” Bari 70125, Italy;
- 2Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA;
- 3Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA
Abstract
Ape chromosomes homologous to human chromosomes 14 and 15 were generated by a fission event of an ancestral submetacentric chromosome, where the two chromosomes were joined head-to-tail. The hominoid ancestral chromosome most closely resembles the macaque chromosome 7. In this work, we provide insights into the evolution of human chromosomes 14 and 15, performing a comparative study between macaque boundary region 14/15 and the orthologous human regions. We construct a 1.6-Mb contig of macaque BAC clones in the region orthologous to the ancestral hominoid fission site and use it to define the structural changes that occurred on human 14q pericentromeric and 15q subtelomeric regions. We characterize the novel euchromatin–heterochromatin transition region (∼20 Mb) acquired during the neocentromere establishment on chromosome 14, and find it was mainly derived through pericentromeric duplications from ancestral hominoid chromosomes homologous to human 2q14–qter and 10. Further, we show a relationship between evolutionary hotspots and low-copy repeat loci for chromosome 15, revealing a possible role of segmental duplications not only in mediating but also in “stitching” together rearrangement breakpoints.
Footnotes
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↵6 Corresponding authors
E-mail giuliana.giannuzzi{at}unil.ch
E-mail mario.ventura{at}uniba.it
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[Supplemental material is available for this article.]
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Article published online before print. Article, supplemental material, and publication date are at http://www.genome.org/cgi/doi/10.1101/gr.156240.113.
- Received February 12, 2013.
- Accepted July 25, 2013.
This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported), as described at http://creativecommons.org/licenses/by-nc/3.0/.
