Role of Chromosomal Reorganisations in the Human–Chimpanzee Speciation

Abstract

The elucidation of how recombination is shaping the genomic architecture of organisms and, more in particular, how this affects the speciation process has been a long‐standing question in evolutionary biology. Large‐scale genomic changes such as inversions, translocations, fusions and fissions contribute to the reshuffling of genomes, providing new chromosomal forms on which natural selection can work. Despite large efforts employed in the last decade, few empirical data are available on the mechanisms by which genome reshuffling contribute to the formation of new species. Here, the authors discuss on the models of chromosomal evolution and the contribution of chromosomal reorganisations in mammalian chromosome evolution, and more specifically, during the human–chimpanzee speciation event.

Key Concepts:

  • The evolutionary process by which new biological species arise (speciation) is a complex process that requires the understanding of many mechanisms such as reproductive isolation, patterns of species diversity, together with the genetic basis underlying the process.

  • Understanding the mechanisms by which reproductive isolation (breakdown of gene flow between two populations) is achieved, is fundamental for speciation.

  • Genetic speciation makes references to the group of genes that are involved in maintaining reproductive isolation between species.

  • Chromosomal reorganisations may contribute to speciation due to the underdominant fitness effects associated with meiotic abnormalities when occurring in heterozygotes.

  • Chromosome rearrangements, such as inversions, can suppress recombination thus contributing to a reduction of gene flow across genomic regions and the accumulation of genetic incompatibilities.

Keywords: chromosomal reorganisations; speciation; inversions; fusions; recombination; great apes; human; chimpanzee

Figure 1.

Representation of the different types of balanced chromosomal reorganisations (fusion, fission, inversion and translocation) that can contribute to chromosome evolution. Chromosomal arms are colour coded, whereas yellow arrows and horizontal bars depict regions where double stand breaks occur along the chromosomes. The centromeres are shown as sloped bars.

Figure 2.

Evolutionary history of human chromosomes superimposed on the phylogeny of great apes. Phylogeny and divergence times are based on previous studies (Locke et al., ; Scally et al., ; Prado‐Martinez et al., ). For each speciation node, effective population size is indicated (Scally et al., ; Prado‐Martinez et al., ). Chromosome 7 has suffered one inversion, fixed in gorilla, and another inversion fixed in human–chimpanzee ancestor. Chromosome 10 underwent one inversion fixed in humans and chimpanzees, and a new inversion fixed in gorilla. Finally, chromosome 12 has maintained the ancestral form in humans and orangutans but has undergone an inversion that has been fixed in chimpanzee and gorilla; therefore, the polymorphic state has persisted across multiple speciation nodes (gorilla–human–chimpanzee and human–chimp).

Figure 3.

Distribution of recombination rates in human chromosome 4. Recombination rates (y‐axis) are shown as needles across nonoverlapping windows of 10 kb in the whole chromosomal length (x‐axis). The genomic region affected by an inversion is depicted in grey, whereas noninverted regions are showed in black. The white rectangle indicates the centromere. Average recombination rate for each region is shown in numbers in the x‐axis. Redrawn from Farré et al. (). © Oxford University Press.

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Farré, Marta, and Ruiz‐Herrera, Aurora(May 2014) Role of Chromosomal Reorganisations in the Human–Chimpanzee Speciation. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0025534]