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Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees
Wendy Winckler,1,3,5*Simon R. Myers,6*Daniel J. Richter,5Robert C. Onofrio,5Gavin J. McDonald,1,5Ronald E. Bontrop,7Gilean A. T. McVean,6Stacey B. Gabriel,5David Reich,3,5Peter Donnelly,6David Altshuler1,2,3,4,5
We compared fine-scale recombination rates at orthologous lociin humans and chimpanzees by analyzing polymorphism data inboth species. Strong statistical evidence for hotspots of recombinationwas obtained in both species. Despite 99% identity at the levelof DNA sequence, however, recombination hotspots were foundrarely (if at all) at the same positions in the two species,and no correlation was observed in estimates of fine-scale recombinationrates. Thus, local patterns of recombination rate have evolvedrapidly, in a manner disproportionate to the change in DNA sequence.
1 Department of Molecular Biology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114–2622, USA. 2 Diabetes Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114–2622, USA. 3 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. 4 Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. 5 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141–2023, USA. 6 Department of Statistics, University of Oxford, Oxford OX1 3TG, UK. 7 Department of Comparative Genetics and Refinement, Biomedical Primate Research Centre, 2280 GH Rijswijk, Netherlands.
* These authors contributed equally to this work.
These authors jointly directed the project.
To whom correspondence should be addressed. E-mail: donnelly{at}stats.ox.ac.uk (P.D.); altshuler{at}molbio.mgh.harvard.edu (D.A.)
High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans.
G. Coop, X. Wen, C. Ober, J. K. Pritchard, and M. Przeworski (2008)
Science
319, 1395-1398
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Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate.
A. Kong, G. Thorleifsson, H. Stefansson, G. Masson, A. Helgason, D. F. Gudbjartsson, G. M. Jonsdottir, S. A. Gudjonsson, S. Sverrisson, T. Thorlacius, et al. (2008)
Science
319, 1398-1401
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Fine Haplotype Structure of a Chromosome 17 Region in the Laboratory and Wild Mouse.
Z. Trachtulec, C. Vlcek, O. Mihola, S. Gregorova, V. Fotopulosova, and J. Forejt (2008)
Genetics
178, 1777-1784
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A Combination of cis and trans Control Can Solve the Hotspot Conversion Paradox.
Loss of a histone deacetylase dramatically alters the genomic distribution of Spo11p-catalyzed DNA breaks in Saccharomyces cerevisiae.
P. A. Mieczkowski, M. Dominska, M. J. Buck, J. D. Lieb, and T. D. Petes (2007)
PNAS
104, 3955-3960
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Combining Sperm Typing and Linkage Disequilibrium Analyses Reveals Differences in Selective Pressures or Recombination Rates Across Human Populations.
V. J. Clark, S. E. Ptak, I. Tiemann, Y. Qian, G. Coop, A. C. Stone, M. Przeworski, N. Arnheim, and A. D. Rienzo (2007)
Genetics
175, 795-804
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Hotspots for copy number variation in chimpanzees and humans.
G. H. Perry, J. Tchinda, S. D. McGrath, J. Zhang, S. R. Picker, A. M. Caceres, A. J. Iafrate, C. Tyler-Smith, S. W. Scherer, E. E. Eichler, et al. (2006)
PNAS
103, 8006-8011
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Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation.
Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles.
Y. Kukita, K. Miyatake, R. Stokowski, D. Hinds, K. Higasa, N. Wake, T. Hirakawa, H. Kato, T. Matsuda, K. Pant, et al. (2005)
Genome Res.
15, 1511-1518
|Abstract »|Full Text »|PDF »
Large-scale recombination rate patterns are conserved among human populations.
99% identity at the level of DNA sequence, however, recombination hotspots were found rarely (if at all) at the same positions in the two species, and no correlation was observed in estimates of fine-scale recombination rates. Thus, local patterns of recombination rate have evolved rapidly, in a manner disproportionate to the change in DNA sequence. 
These authors jointly directed the project. 
To whom correspondence should be addressed. E-mail: 
