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Comparison of human genetic and sequence-based physical maps

Author

Listed:
  • 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)

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.

Suggested Citation

  • Adong Yu & Chengfeng Zhao & Ying Fan & Wonhee Jang & Andrew J. Mungall & Panos Deloukas & Anne Olsen & Norman A. Doggett & Nader Ghebranious & Karl W. Broman & James L. Weber, 2001. "Comparison of human genetic and sequence-based physical maps," Nature, Nature, vol. 409(6822), pages 951-953, February.
    • Handle: RePEc:nat:nature:v:409:y:2001:i:6822:d:10.1038_35057185
    DOI: 10.1038/35057185
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    Cited by:

    1. Joshua M Akey & Michael A Eberle & Mark J Rieder & Christopher S Carlson & Mark D Shriver & Deborah A Nickerson & Leonid Kruglyak, 2004. "Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes," PLOS Biology, Public Library of Science, vol. 2(10), pages 1-1, September.

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