Fluorescence in situ hybridization (FISH) of human bacterial artificial chromosome (BAC) clones to orangutan metaphase spreads localized a breakpoint between human chromosome 3p25.1 and orangutan chromosome 2 to a <30-kb interval. The inversion occurred in a relatively gene-rich region with seven genes within 500 kb. The underlying breakpoint is closely juxtaposed to validated genes, however no functional gene has been disrupted by the evolutionary rearrangement. An approximately 21-kb DNA segment at the 3p25.1 breakpoint region has been duplicated intrachromosomally and interchromosomally to multiple regions in the orangutan and human genomes, providing additional evidence for the role of segmental duplications in hominoid chromosome evolution.

Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X: Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggests their involvement in evolutionary rearrangements. Hum Mol Genet 12:2201–2208 (2003).
Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE: Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005–1017 (2001).
Bernardi G: The human genome: organization and evolutionary history. Annu Rev Genet 29:445–476 (1995).
Chowdhary BP, Raudsepp T, Frönicke L, Scherthan H: Emerging patterns of comparative genome organization in some mammalian species as revealed by Zoo-FISH. Genome Res 8:577–589 (1998).
Delneri D, Colson I, Grammenoudi S, Roberts IN, Louis EJ, Oliver SG: Engineering evolution to study speciation in yeasts. Nature 422:68–72 (2003).
Dennehey BK, Gutches DG, McConkey EH, Krauter KS: Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution. Genomics 83:493–501 (2004).
Dutrillaux B: Chromosomal evolution in primates: tentative phylogeny from Microcebusmurinus (prosimian) to man. Hum Genet 48:251–314 (1979).
Fan Y, Linardopoulou E, Friedman C, Williams E, Trask BJ: Genomic structure and evolution of the ancestral chromosome fusion site in human chromosome 2q13→2q14.1 and paralogous regions on other human chromosomes. Genome Res 12:1651–1662 (2002).
Goidts V, Szamalek JM, Hameister H, Kehrer-Sawatzki H: Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplication on karyotype and genome evolution in primates. Hum Genet 115:116–122 (2004).
Haaf T: Fluorescence in situ hybridization, in Meyers RA (ed): Encyclopedia of Analytical Chemistry. Vol 1. Nucleic Acids Structure and Mapping, pp 4984–5006 (John Wiley & Sons, Chichester 2000).
International Human Genome Sequence Consortium: Initial sequencing and analysis of the human genome. Nature 409:860–921 (2001).
Jauch A, Wienberg J, Stanyon R, Arnold N, Tofanelli S, Ishida T, Cremer T: Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting. Proc Natl Acad Sci USA 89:8611–8615 (1992).
Kehrer-Sawatzki H, Schreiner B, Tänzer S, Platzer M, Müller S, Hameister H: Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am J Hum Genet 71:375–388 (2002).
Kehrer-Sawatzki H, Sandig CA, Chuzhanova N, Goidts V, Szamalek JM, Tänzer S, Müller S, Platzer M, Cooper DN, Hameister H: Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat 25:45–55 (2005a).
Kehrer-Sawatzki H, Sandig CA, Goidts V, Hameister H: Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans. Cytogenet Genome Res 108:91–97 (2005b).
Kehrer-Sawatzki H, Szamalek JM, Tänzer S, Platzer M, Hameister H: Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9. Genomics 85:542–550 (2005c).
Locke DP, Archidiacono N, Misceo D, Cardone MF, Deschamps S, Roe B: Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster. Genome Biol 4: R50.1–9 (2003).
Lu J, Li WH, Wu C: Comment on ‘Chromosomal speciation and molecular divergence: accelerated evolution in rearranged chromosomes’. Science 302:988 (2003).
Machado CA, Kliman RM, Markert JA, Hey J: Inferring the history of speciation from multilocus DNA sequence data: the case of Drosophila pseudoobscura and close relatives. Mol Biol Evol 19:472–488 (2002).
Marques-Bonet T, Navarro A: Chromosomal rearrangements are associated with higher rates of molecular evolution in mammals. Gene 353:147–154 (2005).
Mazzarella R, Schlessinger D: Pathological consequences of sequence duplications in the human genome. Genome Res 8:1007–1021 (1998).
Müller S, Stanyon R, Finelli P, Archidiacono N, Wienberg J: Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution. Proc Natl Acad Sci USA 97:206–211 (2000).
Müller S, Finelli P, Neusser M, Wienberg J: The evolutionary history of human chromosome 7. Genomics 84:458–467 (2004).
Navarro A, Barton NH: Chromosomal speciation and molecular divergence: accelerated evolution in rearranged chromosomes. Science 300:321–324 (2003).
Noor MA, Grams KL, Bertucci LA, Reiland J: Chromosomal inversions and the reproductive isolation of species. Proc Natl Acad Sci USA 98:12084–12088 (2001).
Rieseberg LH: Chromosomal rearrangements and speciation. Trends Ecol Evol 16:351–358 (2001).
Rieseberg LH, Whitton J, Gardner K: Hybrid zones and the genetic architecture of a barrier to gene flow between two sunflower species. Genetics 152:713–727 (1999).
Samonte RV, Eichler EE: Segmental duplications and the evolution of the primate genome. Nat Rev Genet 76:189–191 (2002).
Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13:57–64 (2004).
Shimada MK, Kim CG, Kitano T, Ferrell RE, Kohara Y, Saitou N: Nucleotide sequence comparison of a chromosome rearrangement on human chromosome 12 and the corresponding ape chromosome. Cytogenet Genome Res 108:83–90 (2005).
Stankiewicz P, Park SS, Inoue K, Lupski JR: The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 11:1205–1210 (2001).
Szamalek JM, Goidts V, Chuzhanova N, Hameister H, Cooper DN, Kehrer-Sawatzki H: Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Hum Genet 117:168–176 (2005).
Tsend-Ayush E, Grützner G, Yue Y, Grossmann B, Hänsel U, Sudbrack R, Haaf T: Plasticity of human chromosome 3 during primate evolution. Genomics 83:193–202 (2004).
Vallender EJ, Lahn BT: Effects of chromosomal rearrangements on human-chimpanzee molecular evolution. Genomics 84:757–761 (2004).
Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D’Addabbo P, Wandall A, Bjorck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M: Recurent sites for new centromere seeding. Genome Res 14:1696–1703 (2004).
Weise A, Starke H, Mrasek K, Claussen U, Liehr T: New insights into the evolution of chromosome 1. Cytogenet Genome Res 108:217–222 (2005).
White MJD: Modes of Speciation (Freeman, San Francisco 1978).
Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 36:271–278 (1999).
Yue Y, Grossmann B, Tsend-Ayush E, Grützner F, Ferguson-Smith MA, Yang F, Haaf T: Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2. Cytogenet Genome Res 108:98–105 (2005a).
Yue Y, Grossmann B, Ferguson-Smith M, Yang FT, Haaf T: Comparative cytogenetics of human chromosome 3q21.3 reveals a hot spot for ectopic recombination in hominoid evolution. Genomics 85:36–47 (2005b).
Yunis JJ, Prakash O: The origin of man: a chromosomal pictorial legacy. Science 215:1525–1530 (1982).
Zhang J, Wang X, Podlaha O: Testing the chromosomal speciation hypothesis for humans and chimpanzees. Genome Res 14:845–851 (2004).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.