Human Genetics

, Volume 122, Issue 3–4, pp 301–310 | Cite as

Variation in estimated recombination rates across human populations

  • Jan Graffelman
  • David J. Balding
  • Anna Gonzalez-Neira
  • Jaume Bertranpetit
Original Investigation


Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns of variability across populations. Direct measurement of recombination rates remains infeasible on a large scale, and population-genetic approaches can be imprecise, and are affected by demographic history. Reports to date have suggested broad similarity in recombination rates at large genomic scales and across human populations. Here, we examine recombination rate estimates at a finer population and genomic scale: 28 worldwide populations and 107 SNPs in a 1 Mb stretch of chromosome 22q. We employ analysis of variance of recombination rate estimates, corrected for differences in effective population size using genome-wide microsatellite mutation rate estimates. We find substantial variation in fine-scale rates between populations, but reduced variation within continental groups. All effects examined (SNP-pair, region, population and interactions) were highly significant. Adjustment for effective population size made little difference to the conclusions. Observed hotspots tended to be conserved across populations, albeit at varying intensities. This holds particularly for populations from the same region, and also to a considerable degree across geographical regions. However, some hotspots appear to be population-specific. Several results from studies on the population history of humans are in accordance with our analysis. Our results suggest that between-population variation in DNA sequences may underly recombination rate variation.


Recombination Rate Effective Population Size Genomic Interval Continental Group Recombination Rate Estimate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This study was supported by the European Project QLG2-CT-2002-00916 (LD-EUROPE), by the Ministerio de Ciencia y Tecnología from the Spanish Government (BMC2001- 0772, BFU2004-02002/BMC and SEJ2006-13537 for the first author), by DURSI, Generalitat de Catalunya (Grup de Recerca Consolidat 2005SGR00608 and Distinció per a la Recerca Universitaria to JB) and by a mobility grant from the Universitat Politècnica de Catalunya for the first author. We thank the Department of Computing from Imperial College for access to the MARS cluster for carrying out the calculations. We also thank Oscar Lao for assistance with the STR data.


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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Jan Graffelman
    • 1
  • David J. Balding
    • 2
  • Anna Gonzalez-Neira
    • 3
  • Jaume Bertranpetit
    • 4
  1. 1.Department of Statistics and Operations ResearchUniversitat Politècnica de CatalunyaBarcelonaSpain
  2. 2.Department of Epidemiology and Public HealthImperial CollegeLondonUK
  3. 3.Centro Nacional de Investigaciones OncológicasMadridSpain
  4. 4.Biologia Evolutiva, CEXS and CIBER en Epidemiología y Salud Pública (CIBERESP, Spain)Universitat Pompeu FabraBarcelonaSpain

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