A fine-scale chimpanzee genetic map from population sequencing

Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15.

Abstract

To study the evolution of recombination rates in apes, we developed methodology to construct a fine-scale genetic map from high-throughput sequence data from 10 Western chimpanzees, Pan troglodytes verus. Compared to the human genetic map, broad-scale recombination rates tend to be conserved, but with exceptions, particularly in regions of chromosomal rearrangements and around the site of ancestral fusion in human chromosome 2. At fine scales, chimpanzee recombination is dominated by hotspots, which show no overlap with those of humans even though rates are similarly elevated around CpG islands and decreased within genes. The hotspot-specifying protein PRDM9 shows extensive variation among Western chimpanzees, and there is little evidence that any sequence motifs are enriched in hotspots. The contrasting locations of hotspots provide a natural experiment, which demonstrates the impact of recombination on base composition.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Mammalian / genetics*
  • CpG Islands
  • Evolution, Molecular
  • Female
  • Genetic Variation
  • Haplotypes
  • High-Throughput Nucleotide Sequencing
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Male
  • Pan troglodytes / genetics*
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic*
  • Sequence Analysis, DNA
  • Species Specificity

Substances

  • Histone-Lysine N-Methyltransferase
  • PRDM9 protein, human