Chromosomal Rearrangements in the Human and Chimpanzee Lineages


Among the structural differences evident between humans and chimpanzees are large chromosomal rearrangements which are visible by cytogenetic analysis. These include the fusion that created human chromosome 2, nine pericentric inversions and numerous chromatin additions at the telomeres. Recently performed genome‐wide comparative analyses have also revealed a considerable number of submicroscopic structural variations which contribute significantly to the chromosomal divergence between humans and chimpanzees. This microheterogeneity comprises inversions, duplications and deletions ranging in size from a few base pairs up to several megabases. These copy number differences appear to have given rise to several hundred megabases of genomic deoxyribonucleic acid (DNA) sequence that are either present or absent in humans as compared to chimpanzees. Since many of these lineage‐specific copy number differences contain genes, humans and chimpanzees may differ significantly with respect to their gene content, and some of these differences could have influenced the evolution of lineage‐specific traits.

Keywords: pericentric inversions; fusion of human chromosome 2; suppressed recombination; microheterogeneity; copy number differences; microinversions

Figure 1.

G‐banded chromosomes of human (upper panel) and chimpanzee chromosomes (Pan troglodytes, lower panel). Human chromosome 2 and the two submetacentric orthologous chimpanzee chromosomes are boxed by grey rectangles. The positions of the centromeres of these submetacentric chromosomes are indicated by black lines. The two ancestral chromosomes to these chimpanzee chromosomes gave rise to human chromosome 2 by telomere–telomere fusion. The human and chimpanzee chromosomes that are distinguishable by pericentric inversions are indicated by red and green arrowheads, respectively.

Figure 2.

Model to explain the probable mechanism underlying the human‐specific inversion of chromosome 18. This inversion was probably mediated by a human lineage‐specific segmental duplication (grey striped arrow) in inverted orientation that was transposed to the p arm in the ancestor of modern humans (cen: centromere).



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Kehrer‐Sawatzki, Hildegard, and Cooper, David N(Apr 2008) Chromosomal Rearrangements in the Human and Chimpanzee Lineages. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020738]