Comparative Cytogenetics Technologies


During the last two decades, comparative cytogenetics has developed from a specialized discipline to a highly dynamic field of research. Major technological advancements have driven this development, combined with the increasing awareness that many aspects of human genome function can be better understood in an evolutionary context. Comparative chromosome and genome analysis is providing a valuable tool in various fields of basic and applied genome research, such as the identification of candidate gene loci in biomedical animal models, or for the understanding of relationships between chromosome evolution and disease. This article provides a summary of recent technical developments in the field of comparative cytogenetics and genomics, together with selected examples for their applications.

Keywords: cross‐species chromosome painting; Zoo‐FISH; comparative mapping; DNA micro‐array; chromosomal homology; phylogenetic analysis

Figure 1.

Delineation of chromosomal homologies between species by cross‐species FISH. (a) (SKY) of orangutan chromosomes using human chromosome painting probes demonstrates the absence of interchromosomal rearrangements except for two pairs of human chromosome 2 homologues (inset). (b) Multicolour Zoo‐FISH with human chromosome 9 arm‐ and band‐specific probes delineates sub‐regional homologies with the respective orangutan chromosome and detects intra‐chromosomal rearrangements (inset, arrowheads highlight centromeres). (c) High‐resolution comparative FISH mapping of three BAC clones (red, green and blue) derived from human chromosome 7 detects a conserved syntenic segment with inverted marker order on the homologous orangutan chromosome (inset, arrowheads highlight centromeres). Visualization of (d) chromosome territories using five differentially labelled human chromosome painting probes (chromosome 13 = green, 14 = yellow, 15 = magenta, 21 = blue and 22 = red) and of (e) individual genomic loci using five BAC clones (red, green, blue, yellow and magenta) derived from human chromosome 7 in morphologically 3D‐preserved interphase nuclei of the gorilla by cross‐species FISH.

Figure 2.

High‐resolution comparative map of human chromosome 7 and the respective orangutan homologue established by interspecies FISH of 17 BACs. The mapping position of the BACs on the human chromosome 7 is given in MBp. The different BAC marker order in the two species delineates an evolutionary paracentric and a pericentric inversion (Green bars indicate breakpoints of the paracentric inversion, red bars those of the pericentric inversion) (after Müller et al., ).

Figure 3.

The proposed ancestral karyotype for primates (2n = 50) and important phylogenetic landmarks of primate chromosome evolution (after Froenicke, ). Chromosomes are ordered according to approximate length. The numbers on the left indicate the human homologous chromosome (region). Each human homologue has been assigned a different colour. Prosimia and Simia differ by a reciprocal translocation of the human chromosome 12 and 22 homologues. New World monkeys and higher Old World primates differ by a fission of the human chromosome 3 and 21 homologues. Within higher Old World primates, hominoids represent a distinct group defined by a fission of the human chromosome 14 and 15 homologues. Human differs from great apes by the fusion of the chromosome 2p and 2q homologues to form the recent human chromosome 2.



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Froenicke L (2005) Origins of primate chromsomes‐as delineated by Zoo‐FISH and alignments of human and mouse draft genome sequences. Cytogenetic and Genome Research 108: 122–138.

Gribble SM, Fiegler H, Burford DC et al. (2004) Applications of combined DNA microarray and chromosome sorting technologies. Chromosome Research 12: 35–43.

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Müller S, Finelli P, Neusser M and Wienberg J (2004) The evolutionary history of human chromosome 7. Genomics 84: 458–467.

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Further Reading

Müller S (2006) Primate chromosome evolution. In: Stankiewicz P and Lupski JR (eds) Genomic Disorders: The Genomic Basis of Disease, pp. 133–152. Torowa, NJ: Humana Press.

Speicher MR and Carter NP (2005) The new cytogenetics: blurring the boundaries with molecular biology. Nature Reviews Genetics 6: 782–792.

Wienberg J (2005) Fluorescence in situ hybridization to chromosomes as a tool to understand human and primate genome evolution. Cytogenetic and Genome Research 108: 139–160.

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Müller, Stefan, and Wienberg, Johannes(Dec 2007) Comparative Cytogenetics Technologies. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005802.pub2]