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Mammalian karyotype evolution

Nature Reviews Genetics volume 8, pages 950–962 (2007)Cite this article

Key Points

  • Animal karyotypes display a great diversity in number and morphology.

  • Mammalian genomes can be resolved by chromosome painting into comparatively large conserved chromosomal segments.

  • Rearrangement of these segments into different combinations explains much of the observed karyotype variation among species.

  • New segment combinations are produced during evolution by non-allelic homologous recombination and other errors.

  • Cross-species chromosome painting with human chromosome-specific DNA reveals associations of syntenic segments in mammalian karyotypes, some of which are recently derived and some of which are ancestral.

  • These associations can be used to determine phylogenetic relationships between species and across all mammalian orders and to predict the ancestral mammalian karyotype.

Abstract

The chromosome complements (karyotypes) of animals display a great diversity in number and morphology. Against this background, the genomes of all species are remarkably conserved, not only in transcribed sequences, but also in some chromosome-specific non-coding sequences and in gene order. A close examination with chromosome painting shows that this conservation can be resolved into small numbers of large chromosomal segments. Rearrangement of these segments into different combinations explains much of the observed diversity in species karyotypes. Here we discuss how these rearrangements come about, and show how their analysis can determine the evolutionary relationships of all mammals and their descent from a common ancestor.

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Figure 1: The mammalian evolutionary tree.
Figure 2: Mapping human homologies on aardvark chromosomes.
Figure 3: Ancestral eutherian karyotype.
Figure 4: Primate evolutionary tree.
Figure 5: Carnivore evolutionary tree.
Figure 6: Cetartiodactyl evolutionary tree.
Figure 7: Rodent evolutionary tree.

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Acknowledgements

We are grateful to F. Yang for Figure 2a and for helpful comments on the manuscript. The work of the Cambridge Resource Centre for Comparative Genomics is supported by the Wellcome Trust, UK.

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Authors and Affiliations

  1. Cambridge University Department of Veterinary Medicine, Cambridge Resource Centre for Comparative Genomics, Madingley Road, Cambridge, CB3 0ES, UK

    Malcolm A. Ferguson-Smith & Vladimir Trifonov

  2. Institute of Cytology and Genetics SB RAS, Lavrentjev av 10, Novosibirsk, 630090, Russian Federation

    Vladimir Trifonov

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  1. Malcolm A. Ferguson-Smith
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Correspondence to Malcolm A. Ferguson-Smith.

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FURTHER INFORMATION

Cambridge Resource Centre for Comparative Genomics

CHROMHOME

Ensembl Mouse

Glossary

Eutherians

Placental mammals (Placentalia).

Segmental duplication

Duplicated blocks of genomic DNA sequence that account for 5–10% of the human genome. Illegitimate recombination between such repeats on different chromosomes can lead to chromosome rearrangements.

Chromosome banding

Chromosome preparations are stained to reveal horizontal light and dark bands across the chromosome arms that serve to identify each chromosome.

Flow cytometry

A procedure whereby cells or chromosomes are measured and sorted in a fluid suspension.

Interstitial insertion

A chromosome rearrangement in which a segment is excised from one region and inserted into another.

Synteny

DNA sequences that are located on the same chromosome are syntenic.

Therians

Marsupials (metatherians) and eutherians (monotremes are prototherians).

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Ferguson-Smith, M., Trifonov, V. Mammalian karyotype evolution. Nat Rev Genet 8, 950–962 (2007). https://doi.org/10.1038/nrg2199

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