Comparison of human genetic and sequence-based physical maps

Adong Yu, Chengfeng Zhao, Ying Fan, Wonhee Jang, Andrew J. Mungall, Panos Deloukas, Anne Olsen, Norman A. Doggett, Nader Ghebranious, Karl W. Broman and James L. Weber ()
Additional contact information
Adong Yu: Center for Medical Genetics, Marshfield Medical Research Foundation
Chengfeng Zhao: Center for Medical Genetics, Marshfield Medical Research Foundation
Ying Fan: Center for Medical Genetics, Marshfield Medical Research Foundation
Wonhee Jang: National Center for Biotechnology Information, National Institutes of Health
Andrew J. Mungall: The Sanger Centre, Wellcome Trust Genome Campus
Panos Deloukas: The Sanger Centre, Wellcome Trust Genome Campus
Anne Olsen: Joint Genome Institute
Norman A. Doggett: Los Alamos National Laboratory
Nader Ghebranious: Center for Medical Genetics, Marshfield Medical Research Foundation
Karl W. Broman: Johns Hopkins University
James L. Weber: Center for Medical Genetics, Marshfield Medical Research Foundation

Nature, 2001, vol. 409, issue 6822, 951-953

Abstract: Abstract Recombination is the exchange of information between two homologous chromosomes during meiosis. The rate of recombination per nucleotide, which profoundly affects the evolution of chromosomal segments, is calculated by comparing genetic and physical maps. Human physical maps have been constructed using cytogenetics1, overlapping DNA clones2 and radiation hybrids3; but the ultimate and by far the most accurate physical map is the actual nucleotide sequence. The completion of the draft human genomic sequence4 provides us with the best opportunity yet to compare the genetic and physical maps. Here we describe our estimates of female, male and sex-average recombination rates for about 60% of the genome. Recombination rates varied greatly along each chromosome, from 0 to at least 9 centiMorgans per megabase (cM Mb-1). Among several sequence and marker parameters tested, only relative marker position along the metacentric chromosomes in males correlated strongly with recombination rate. We identified several chromosomal regions up to 6 Mb in length with particularly low (deserts) or high (jungles) recombination rates. Linkage disequilibrium was much more common and extended for greater distances in the deserts than in the jungles.

Date: 2001
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DOI: 10.1038/35057185

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