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Table of Contents
Vol. 108, No. 1-3, 2005
Issue release date: November 2004
Section title: Comparative Genomics and Molecular Evolution
Cytogenet Genome Res 108:91–97 (2005)
(DOI:10.1159/000080806)

Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans

Kehrer-Sawatzki H. · Sandig C.A. · Goidts V. · Hameister H.
Department of Human Genetics, University of Ulm, Ulm (Germany)

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Article / Publication Details

First-Page Preview
Abstract of Comparative Genomics and Molecular Evolution

Published online: November 12, 2004
Issue release date: November 2004

Number of Print Pages: 7
Number of Figures: 5
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The inversion break in PTR10p caused the disruption of the SLCO1B3 gene in exon 11. However, the 86-kb duplication includes the functional SLCO1B3 locus, which is thus retained in the chimpanzee, although inverted to PTR10q. The second duplication spans 23 kb and does not contain expressed sequences. Eleven genes map to a region of about 1 Mb around the breakpoints. Six of these eleven genes are not among the differentially expressed genes as determined previously by comparing the human and chimpanzee transcriptome of fibroblast cell lines, blood leukocytes, liver and brain samples. These findings imply that the inversion did not cause major expression differences of these genes. Comparative FISH analysis with BACs spanning the inversion breakpoints in PTR on metaphase chromosomes of gorilla (GGO) confirmed that the pericentric inversion of the chromosome 12 homologs in GGO and PTR have distinct breakpoints and that humans retain the ancestral arrangement. These findings coincide with the trend observed in hominoid karyotype evolution that humans have a karyotype close to an ancestral one, while African great apes present with more derived chromosome arrangements.    

© 2005 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Comparative Genomics and Molecular Evolution

Published online: November 12, 2004
Issue release date: November 2004

Number of Print Pages: 7
Number of Figures: 5
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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