Chromosome Rearrangement Patterns in Mammalian Evolution


Closely related species often have the same or similar karyotypes. This has been demonstrated in classical genetics with salivary gland chromosomes of different Drosophila species, in which the sequence of rearrangements that occurred during evolution can often be traced. Recently, molecular cytogenetics has proved that this is also true for mammalian chromosomes. The inspection of chromosomal changes with molecular defined probes by fluorescence in situ hybridization (FISH) allows the interpretation of the single or multiple steps that changed genomes during evolution. Comparative chromosome painting or ‘Zoo‐FISH’ and related techniques are now considered as one of the most powerful approaches in comparative genome studies for the understanding of the mode and tempo of gross genomic changes in primates and other mammals. For many nodes in mammalian phylogeny landmark chromosome rearrangements have now been identified that would discriminate ancestral versus derived chromosome changes and help to elucidate species phylogenies.

Keywords: comparative cytogenetics; primate chromosomes; mammalian chromosomes; chromosomal homology; phylogenetic analysis; heterochromatin

Figure 1.

Overview of primate phylogeny including those taxa that have been analysed by molecular cytogenetics up to now. No information on chromosome painting has yet been obtained from Tarsiers. Some phylogenies, such as those of New World monkeys, are still disputed.

Figure 2.

Evolution of human chromosome 2. Chromosome rearrangements often leave their ‘fingerprints’, which can still be detected after several million years. Chromosome painting with a human chromosome‐2‐specific probe delineates two homologous chromosome pairs in primates. Alternatively, in situ hybridization with probes derived from the two primate homologues would paint the short arm, a small section of the long arm (red) and the rest of the long arm of human chromosome 2 (blue), respectively. The hybridization patterns demonstrate that the fusion point of the two homologues was not the centromere but was in band 2q13 where telomeric sequences (grey arrow) can be found. Remains of ancestral alphoid sequences from the ‘2q homologue’ (green arrow) are found in band 2q21. After Wienberg et al. ().

Figure 3.

Cross‐species chromosome painting with some of the larger human chromosomes (probes for chromosomes 1, 3, 4, 5, 7) to human chromosomes (a), and to those of the Old World primate the African green monkey (Cercopithecus aethiops) (b). Chromosome paints were labelled with Cy3‐dUTP (deoxyuridine triphosphate) (chromosome 1, red), FITC (fluorescein isothiocyanate)‐dUTP (chromosome 3, green), Biotin‐dUTP/Cy5 (chromosome 4, blue), DEAC (diethylaminocoumarin)‐dUTP (chromosome 5, turquoise) and TexasRed‐dUTP (chromosome 7, lilac), respectively. In the monkey karyotype all five chromosomes experienced fission of large segments converting each ancestral chromosome into two. (c) Compares each human chromosome (HSA, Homo sapiens) with the African green monkey homologue (CAE, Cercopithecus aethiops). Chromosome numbers for each species are given below the chromosomes. (d) Reciprocal chromosome painting with an African green monkey painting probe to human chromosome 1 shows, as for most other chromosomes, that the fission point is not located within the centromere (arrows). Reproduced with permission from Wienberg J (2004) The evolution of eutherian chromosomes. Current Opinion in Genetics & Development14: 657–666.

Figure 4.

Chromosome painting in New World monkeys. Chromosomes from the Goeldi's mamoset (Callimico goeldii) were painted with six different human chromosome‐specific probes. Painting probes were derived from human chromosomes 5 (red), 7 (aqua), 8 (blue), 10 (yellow), 16 (pink) and 18 (green), delineating the translocations 5/7, 8/18 and 10/16. These three translocations are shared by all New World monkeys analysed up to now, supporting the monophyly of this group. (Kindly provided by Neusser, ).

Figure 5.

Chromosome landmark changes in the evolution from nonprimate mammals to humans since the divergence from the phylogeny leading to rodents and lagomorphs (circles at branchings). A landmark represents a change in chromosome morphology that is shared by all descendants of the given clade. For example, the human chromosome 3 and 21 homologues form a single chromosome in the ancestal karyotype of eutherians but are fissioned after the divergence of New World and Old World primates (circle (8–10)). All higher Old World primates share this fission. In the figure only landmarks in the direct line leading to humans are indicated and many more landmarks can be identified in the individual branches leading to other species. The branching is following recent DNA sequence comparisons while the detailed timescale of the branching of the orders/suborders, etc. is disputed and is not the subject of this article. In detail the landmarks are: (1,2) fusion of two segments of the human chromosome 8 homologue; fission of a chromosome 10 fragment from a chromosome consisting of segments of both 12 and 22; (3,4) fusion of the two fragments of chromosome 10, fission of the association of fragments of chromosomes 16 and 19; (5–7) fission of the association of fragments of chromosomes 7 and16, fusion of two fragments of chromosome 19, reciprocal translocation between two chromosomes consisting of fragments of chromosomes 12 and 22 (t(22a;12a)(12b;22b)); (8–10) fission of the association 3/21; fusion of two fragments of chromosome 16 and fusion of two fragments of chromosome 7; (11) fission of chromosomes homologous to human 14 and 15 and (12) fusion of two chromosomes to form human chromosome 2. Reproduced with permission from Wienberg J (2004) The evolution of eutherian chromosomes. Current Opinion in Genetics & Development14: 657–666.



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Further Reading

Carbone L, Vessere GM, ten Hallers BF et al. (2006) A high‐resolution map of synteny disruptions in gibbon and human genomes. PLoS Genetics 2: e223.

Ferguson‐Smith MA and Trifonov V (2007) Mammalian karyotype evolution. Nature Reviews. Genetics 8: 950–962.

Roberto R, Capozzi O, Wilson RK et al. (2006) Molecular refinement of gibbon genome rearrangements. Genome Research 17: 249–257.

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How to Cite close
Wienberg, Johannes, and Müller, Stefan(Jul 2008) Chromosome Rearrangement Patterns in Mammalian Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005798.pub2]