title: Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21.
abstract: Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.
authors.affiliation: Department of Molecular Genetics, Microbiology and Immunology, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Greenawalt
authors.forename: Xiangfeng
authors.initials: X
authors.lastname: Cui
authors.forename: Yujun
authors.initials: Y
authors.lastname: Wu
authors.forename: Yong
authors.initials: Y
authors.lastname: Lin
authors.forename: Hui-Yun
authors.initials: HY
authors.lastname: Wang
authors.forename: Minjie
authors.initials: M
authors.lastname: Luo
authors.forename: Irina V
authors.initials: IV
authors.lastname: Tereshchenko
authors.forename: Guohong
authors.initials: G
authors.lastname: Hu
authors.forename: James Y
authors.initials: JY
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Chu
authors.forename: Marco A
authors.initials: MA
authors.lastname: Azaro
authors.forename: Christina J
authors.initials: CJ
authors.lastname: Decoste
authors.forename: Nyam-Osor
authors.initials: NO
authors.lastname: Chimge
authors.forename: Richeng
authors.initials: R
authors.lastname: Gao
authors.forename: Li
authors.initials: L
authors.lastname: Shen
authors.forename: Weichung J
authors.initials: WJ
authors.lastname: Shih
authors.forename: Kenneth
authors.initials: K
authors.lastname: Lange
authors.forename: Honghua
authors.initials: H
authors.lastname: Li
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013094:Spermatozoa / Q000502:physiology*