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A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome
Simon Myers,Leonardo Bottolo,Colin Freeman,Gil McVean,*Peter Donnelly*
Genetic maps, which document the way in which recombinationrates vary over a genome, are an essential tool for many geneticanalyses. We present a high-resolution genetic map of the humangenome, based on statistical analyses of genetic variation data,and identify more than 25,000 recombination hotspots, togetherwith motifs and sequence contexts that play a role in hotspotactivity. Differences between the behavior of recombinationrates over large (megabase) and small (kilobase) scales leadus to suggest a two-stage model for recombination in which hotspotsare stochastic features, within a framework in which large-scalerates are constrained.
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK.
* These authors jointly directed the project.
To whom correspondence should be addressed. E-mail: donnelly{at}stats.ox.ac.uk
Singapore Genome Variation Project: A haplotype map of three Southeast Asian populations.
Y.-Y. Teo, X. Sim, R. T.H. Ong, A. K.S. Tan, J. Chen, E. Tantoso, K. S. Small, C.-S. Ku, E. J.D. Lee, M. Seielstad, et al. (2009)
Genome Res.
19, 2154-2162
|Abstract »|Full Text »|PDF »
Haploview: Visualization and Analysis of SNP Genotype Data.
Common body mass index-associated variants confer risk of extreme obesity.
C. Cotsapas, E. K. Speliotes, I. J. Hatoum, D. M. Greenawalt, R. Dobrin, P. Y. Lum, C. Suver, E. Chudin, D. Kemp, M. Reitman, et al. (2009)
Hum. Mol. Genet.
18, 3502-3507
|Abstract »|Full Text »|PDF »
GC Content and Recombination: Reassessing the Causal Effects for the Saccharomyces cerevisiae Genome.
Ancestral Population Genomics: The Coalescent Hidden Markov Model Approach.
J. Y. Dutheil, G. Ganapathy, A. Hobolth, T. Mailund, M. K. Uyenoyama, and M. H. Schierup (2009)
Genetics
183, 259-274
|Abstract »|Full Text »|PDF »
A New Standard Genetic Map for the Laboratory Mouse.
A. Cox, C. L. Ackert-Bicknell, B. L. Dumont, Y. Ding, J. T. Bell, G. A. Brockmann, J. E. Wergedal, C. Bult, B. Paigen, J. Flint, et al. (2009)
Genetics
182, 1335-1344
|Abstract »|Full Text »|PDF »
Single-Feature Polymorphism Mapping in Bread Wheat.
T. W. Banks, M. C. Jordan, and D. J. Somers (2009)
The Plant Genome
2, 167-178
|Abstract »|Full Text »|PDF »
Joint estimation of gene conversion rates and mean conversion tract lengths from population SNP data.
Novel Nucleotide Sequence Motifs That Produce Hotspots of Meiotic Recombination in Schizosaccharomyces pombe.
W. W. Steiner, E. M. Steiner, A. R. Girvin, and L. E. Plewik (2009)
Genetics
182, 459-469
|Abstract »|Full Text »|PDF »
Signals of recent positive selection in a worldwide sample of human populations.
J. K. Pickrell, G. Coop, J. Novembre, S. Kudaravalli, J. Z. Li, D. Absher, B. S. Srinivasan, G. S. Barsh, R. M. Myers, M. W. Feldman, et al. (2009)
Genome Res.
19, 826-837
|Abstract »|Full Text »|PDF »
Methods for Human Demographic Inference Using Haplotype Patterns From Genomewide Single-Nucleotide Polymorphism Data.
K. E. Lohmueller, C. D. Bustamante, and A. G. Clark (2009)
Genetics
182, 217-231
|Abstract »|Full Text »|PDF »
Population genomic inference of recombination rates and hotspots.
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.
M. I. Sigurdsson, A. V. Smith, H. T. Bjornsson, and J. J. Jonsson (2009)
Genome Res.
19, 581-589
|Abstract »|Full Text »|PDF »
A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate.
M. A.M. Groenen, P. Wahlberg, M. Foglio, H. H. Cheng, H.-J. Megens, R. P.M.A. Crooijmans, F. Besnier, M. Lathrop, W. M. Muir, G. K.-S. Wong, et al. (2009)
Genome Res.
19, 510-519
|Abstract »|Full Text »|PDF »
Recombination and Nucleotide Diversity in the Sex Chromosomal Pseudoautosomal Region of the Emu, Dromaius novaehollandiae.
D. E. Janes, T. Ezaz, J. A. Marshall Graves, and S. V. Edwards (2009)
J. Hered.
100, 125-136
|Abstract »|Full Text »|PDF »
Comment on "Human-Specific Gain of Function in a Developmental Enhancer".
Response to Comment on "Human-Specific Gain of Function in a Developmental Enhancer".
S. Prabhakar, A. Visel, J. A. Akiyama, M. Shoukry, K. D. Lewis, A. Holt, I. Plajzer-Frick, H. Morrison, D. R. FitzPatrick, V. Afzal, et al. (2009)
Science
323, 714d
|Abstract »|Full Text »|PDF »
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.
S. Girirajan, L. Chen, T. Graves, T. Marques-Bonet, M. Ventura, C. Fronick, L. Fulton, M. Rocchi, R. S. Fulton, R. K. Wilson, et al. (2009)
Genome Res.
19, 178-190
|Abstract »|Full Text »|PDF »
How frugal is mother nature with haplotypes?.
S. Climer, G. Jager, A. R. Templeton, and W. Zhang (2009)
Bioinformatics
25, 68-74
|Abstract »|Full Text »|PDF »
Bayesian inference of fine-scale recombination rates using population genomic data.
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
|Abstract »|Full Text »|PDF »
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
|Abstract »|Full Text »|PDF »
A Combination of cis and trans Control Can Solve the Hotspot Conversion Paradox.
Recombination rates of genes expressed in human tissues.
M. Kato, F. Miya, Y. Kanemura, T. Tanaka, Y. Nakamura, and T. Tsunoda (2008)
Hum. Mol. Genet.
17, 577-586
|Abstract »|Full Text »|PDF »
A Weak Effect of Background Selection on Trinucleotide Microsatellites in Maize.
A.-C. Thuillet, M. I. Tenaillon, L. K. Anderson, S. E. Mitchell, S. Kresovich, S. M. Stack, B. Gaut, and J. Doebley (2008)
J. Hered.
99, 45-55
|Abstract »|Full Text »|PDF »
The genome-wide determinants of human and chimpanzee microsatellite evolution.
Y. D. Kelkar, S. Tyekucheva, F. Chiaromonte, and K. D. Makova (2008)
Genome Res.
18, 30-38
|Abstract »|Full Text »|PDF »
Biased Distributions and Decay of Long Interspersed Nuclear Elements in the Chicken Genome.
G. Abrusan, H.-J. Krambeck, T. Junier, J. Giordano, and P. E. Warburton (2008)
Genetics
178, 573-581
|Abstract »|Full Text »|PDF »
Signatures of Selection in the Human Olfactory Receptor OR5I1 Gene.
A. Moreno-Estrada, F. Casals, A. Ramirez-Soriano, B. Oliva, F. Calafell, J. Bertranpetit, and E. Bosch (2008)
Mol. Biol. Evol.
25, 144-154
|Abstract »|Full Text »|PDF »
Computational and experimental identification of novel human imprinted genes.
P. P. Luedi, F. S. Dietrich, J. R. Weidman, J. M. Bosko, R. L. Jirtle, and A. J. Hartemink (2007)
Genome Res.
17, 1723-1730
|Abstract »|Full Text »|PDF »
Sequence-Level Population Simulations Over Large Genomic Regions.
C. J. Hoggart, M. Chadeau-Hyam, T. G. Clark, R. Lampariello, J. C. Whittaker, M. De Iorio, and D. J. Balding (2007)
Genetics
177, 1725-1731
|Abstract »|Full Text »|PDF »
Using Crossover Breakpoints in Recombinant Inbred Lines to Identify Quantitative Trait Loci Controlling the Global Recombination Frequency.
E. Esch, J. M. Szymaniak, H. Yates, W. P. Pawlowski, and E. S. Buckler (2007)
Genetics
177, 1851-1858
|Abstract »|Full Text »|PDF »
A Highly Polymorphic Meiotic Recombination Mouse Hot Spot Exhibits Incomplete Repair.
Biased clustered substitutions in the human genome: The footprints of male-driven biased gene conversion.
T. R. Dreszer, G. D. Wall, D. Haussler, and K. S. Pollard (2007)
Genome Res.
17, 1420-1430
|Abstract »|Full Text »|PDF »
Simulating association studies: a data-based resampling method for candidate regions or whole genome scans.
F. A. Wright, H. Huang, X. Guan, K. Gamiel, C. Jeffries, W. T. Barry, F. Pardo-Manuel de Villena, P. F. Sullivan, K. C. Wilhelmsen, and F. Zou (2007)
Bioinformatics
23, 2581-2588
|Abstract »|Full Text »|PDF »
Efficacy assessment of SNP sets for genome-wide disease association studies.
A. Wollstein, A. Herrmann, M. Wittig, M. Nothnagel, A. Franke, P. Nurnberg, S. Schreiber, M. Krawczak, and J. Hampe (2007)
Nucleic Acids Res.
35, e113
|Abstract »|Full Text »|PDF »
MareyMap: an R-based tool with graphical interface for estimating recombination rates.
C. Rezvoy, D. Charif, L. Gueguen, and G. A.B. Marais (2007)
Bioinformatics
23, 2188-2189
|Abstract »|Full Text »|PDF »
Meiotic crossover hotspots contained in haplotype block boundaries of the mouse genome.
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes.
E. Zeggini, M. N. Weedon, C. M. Lindgren, T. M. Frayling, K. S. Elliott, H. Lango, N. J. Timpson, J. R. B. Perry, N. W. Rayner, R. M. Freathy, et al. (2007)
Science
316, 1336-1341
|Abstract »|Full Text »|PDF »
Recent human effective population size estimated from linkage disequilibrium.
A. Tenesa, P. Navarro, B. J. Hayes, D. L. Duffy, G. M. Clarke, M. E. Goddard, and P. M. Visscher (2007)
Genome Res.
17, 520-526
|Abstract »|Full Text »|PDF »
Phylogenetic Mapping of Recombination Hotspots in Human Immunodeficiency Virus via Spatially Smoothed Change-Point Processes.
V. N. Minin, K. S. Dorman, F. Fang, and M. A. Suchard (2007)
Genetics
175, 1773-1785
|Abstract »|Full Text »|PDF »
A population genetics model with recombination hotspots that are heterogeneous across the population.
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
|Abstract »|Full Text »|PDF »
Multilocus Patterns of Nucleotide Diversity, Linkage Disequilibrium and Demographic History of Norway Spruce [Picea abies (L.) Karst].
M. Heuertz, E. De Paoli, T. Kallman, H. Larsson, I. Jurman, M. Morgante, M. Lascoux, and N. Gyllenstrand (2006)
Genetics
174, 2095-2105
|Abstract »|Full Text »|PDF »
Estimating Recombination Rates From Single-Nucleotide Polymorphisms Using Summary Statistics.
B. Padhukasahasram, J. D. Wall, P. Marjoram, and M. Nordborg (2006)
Genetics
174, 1517-1528
|Abstract »|Full Text »|PDF »
Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21.
C. Grunau, J. Buard, M.-E. Brun, and A. De Sario (2006)
Genome Res.
16, 1198-1207
|Abstract »|Full Text »|PDF »
Complex Minisatellite Rearrangements Generated in the Total or Partial Absence of Rad27/hFEN1 Activity Occur in a Single Generation and Are Rad51 and Rad52 Dependent..
J. Lopes, C. Ribeyre, and A. Nicolas (2006)
Mol. Cell. Biol.
26, 6675-6689
|Abstract »|Full Text »|PDF »
Nucleotide Variation and Haplotype Diversity in a 10-kb Noncoding Region in Three Continental Human Populations.
Allelic recombination and de novo deletions in sperm in the human {beta}-globin gene region.
K. Holloway, V. E. Lawson, and A. J. Jeffreys (2006)
Hum. Mol. Genet.
15, 1099-1111
|Abstract »|Full Text »|PDF »
Word frequency analysis reveals enrichment of dinucleotide repeats on the human X chromosome and [GATA]n in the X escape region.
J. A. McNeil, K. P. Smith, L. L. Hall, and J. B. Lawrence (2006)
Genome Res.
16, 477-484
|Abstract »|Full Text »|PDF »
The portability of tagSNPs across populations: A worldwide survey.
A. Gonzalez-Neira, X. Ke, O. Lao, F. Calafell, A. Navarro, D. Comas, H. Cann, S. Bumpstead, J. Ghori, S. Hunt, et al. (2006)
Genome Res.
16, 323-330
|Abstract »|Full Text »|PDF »
Caught Red-Handed: Rc Encodes a Basic Helix-Loop-Helix Protein Conditioning Red Pericarp in Rice.
M. T. Sweeney, M. J. Thomson, B. E. Pfeil, and S. McCouch (2006)
PLANT CELL
18, 283-294
|Abstract »|Full Text »|PDF »
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region..
A. Bacolla, J. R. Collins, B. Gold, N. Chuzhanova, M. Yi, R. M. Stephens, S. Stefanov, A. Olsh, J. P. Jakupciak, M. Dean, et al. (2006)
Nucleic Acids Res.
34, 2663-2675
|Abstract »|Full Text »|PDF »