Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

The nature and scale of recombination rate variation are largely unknown for most species. In humans, pedigree analysis has documented variation at the chromosomal level, and sperm studies have identified specific hotspots in which crossing-over events cluster. To address whether this picture is representative of the genome as a whole, we have developed and validated a method for estimating recombination rates from patterns of genetic variation. From extensive single-nucleotide polymorphism surveys in European and African populations, we find evidence for extreme local rate variation spanning four orders in magnitude, in which 50% of all recombination events take place in less than 10% of the sequence. We demonstrate that recombination hotspots are a ubiquitous feature of the human genome, occurring on average every 200 kilobases or less, but recombination occurs preferentially outside genes.

Original publication

DOI

10.1126/science.1092500

Type

Journal article

Journal

Science (New York, N.Y.)

Publication Date

04/2004

Volume

304

Pages

581 - 584

Addresses

Department of Statistics, University of Oxford, Oxford OX1 3TG, UK. mcvean@stats.ox.ac.uk

Keywords

Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 20, Chromosomes, Human, Pair 22, Humans, Monte Carlo Method, Bayes Theorem, Markov Chains, Reproducibility of Results, Chromosome Mapping, Pedigree, Computational Biology, Genetics, Population, Recombination, Genetic, Base Composition, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genes, Genome, Human, African Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Genetic Variation