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Updated: May 12, 2026
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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
Published on: May 7, 2010
Comparison of human genetic and sequence-based physical maps.
1Center for Medical Genetics, Marshfield Medical Research Foundation, Wisconsin 54449, USA.
Nature
|March 10, 2001
Summary
This study estimates human recombination rates across the genome using the human genomic sequence. It reveals significant variation in recombination, identifying "deserts" and "jungles" with distinct genetic characteristics.
Area of Science:
- Genetics
- Genomics
- Evolutionary Biology
Background:
- Recombination, the exchange of genetic material between homologous chromosomes during meiosis, is crucial for evolution.
- Accurate physical maps are essential for calculating recombination rates, with the human genome sequence offering unprecedented precision.
Purpose of the Study:
- To estimate human recombination rates across approximately 60% of the genome.
- To compare genetic and physical maps using the human genomic sequence.
- To identify factors influencing recombination rate variation.
Main Methods:
- Comparing genetic and physical maps derived from the human genomic sequence.
- Calculating recombination rates per nucleotide.
- Analyzing sequence and marker parameters to correlate with recombination rates.
Main Results:
- Recombination rates exhibit substantial variation along chromosomes, ranging from 0 to at least 9 cM Mb(-1).
- Relative marker position on metacentric chromosomes in males strongly correlates with recombination rate.
- Chromosomal regions with exceptionally low (deserts) or high (jungles) recombination rates were identified.
Conclusions:
- The human genome sequence enables precise estimation of recombination rates and identification of recombination hotspots and coldspots.
- Recombination deserts show higher and more extended linkage disequilibrium compared to recombination jungles.
- Understanding recombination rate variation is key to comprehending genome evolution and genetic diversity.
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