Human haplotype block sizes are negatively correlated with recombination rates

Genome Research
Tiffany A GreenwoodNicholas J Schork

Abstract

The International Haplotype Map ("HapMap") Project is motivated, in part, by the belief that the organization of the human genome, the mechanics of recombination, and the population-level behavior of alleles at adjacent loci should allow researchers to parse the genome into small segments, or "blocks," that show strong linkage disequilibrium (LD) between alleles at loci within those segments. The discovery and evidence for these blocks is to be based solely on the observed LD strength and patterns between alleles at adjacent loci throughout the genome. Although there are many factors that contribute to LD strength, we assessed the correlation between block structure, in terms of length and percentage of the genome assembled into blocks within a region, and recombination rate obtained from two independent sources. We found evidence of a striking negative correlation between the average recombination rate and average block length, suggesting that recombination rate is a strong contributor to haplotype block structure within the genome. We discuss the potential implications of this negative correlation in the context of the organization, properties, and potential ubiquity of a block-like structure in the human genome.

References

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Citations

Jan 8, 2009·European Journal of Human Genetics : EJHG·Luba PardoPeter Heutink
Jan 20, 2005·European Journal of Human Genetics : EJHG·Sarah L SawyerKenneth K Kidd
Dec 13, 2006·Nucleic Acids Research·Bernard A KonfortovPaul H Dear
Jul 31, 2007·Genetics·Judith M KolkmanSteven J Knapp
Jul 6, 2015·Molecular Genetics and Genomics : MGG·Zoltán JuhászHorolma Pamjav
Aug 24, 2010·Journal of Theoretical Biology·Dorota MackiewiczStanisław Cebrat
Sep 30, 2015·BMC Bioinformatics·Federico Andrea SantoniStylianos E Antonarakis
Jan 28, 2009·Circulation·Keyue Ding, Iftikhar J Kullo
Apr 1, 2006·Stroke; a Journal of Cerebral Circulation·Youhei MineharuAkio Koizumi
Nov 11, 2005·Molecular Biology and Evolution·Michael Lynch
Jun 6, 2013·Journal of Animal Science·R VeronezeE F Knol
Jan 13, 2015·BMC Genomics·Fabiana Barichello MokryLuciana Correia de Almeida Regitano

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