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High-resolution patterns of meiotic recombination across the human major histocompatibility complex

  1. Author:
    Cullen, M.
    Perfetto, S. P.
    Klitz, W.
    Nelson, G.
    Carrington, M.

  2. Author Address

    NCI, Lab Genom Divers, Basin Res Program, SAIC Frederick, POB B, Ft Detrick, MD 21702 USA NCI, Lab Genom Divers, Basin Res Program, SAIC Frederick, Ft Detrick, MD 21702 USA George Washington Univ, Grad Program Genet, Inst Biomed Sci, Washington, DC USA NIH, USA Program, Vaccine Res Ctr, Bethesda, MD 20892 USA Childrens Hosp, Oakland Res Inst, Oakland, CA 94609 USA Univ Calif Berkeley, Sch Publ Hlth, Berkeley, CA 94720 USA Carrington M NCI, Lab Genom Divers, Basin Res Program, SAIC Frederick, POB B, Ft Detrick, MD 21702 USA
    1. Year: 2002
  2. Journal: American Journal of Human Genetics
    1. 71
    2. 4
    3. Pages: 759-776
  4. Type of Article: Article
  1. Abstract:

    Definitive characteristics of meiotic recombination events over large (i.e., >1 Mb) segments of the human genome remain obscure, yet they are essential for establishing the haplotypic structure of the genome and for efficient mapping of complex traits. We present a high-resolution map of recombination at the kilobase level across a 3.3-Mb interval encompassing the major histocompatibility complex (MHC). Genotyping of 20,031 single sperm from 12 individuals resulted in the identification and fine mapping of 325 recombinant chromosomes within genomic intervals as small as 7 kb. Several principal characteristics of recombination in this region were observed: (1) rates of recombination can differ significantly between individuals; (2) intense hot spots of recombination occur at least every 0.8 Mb but are not necessarily evenly spaced; (3) distribution in the location of recombination events can differ significantly among individuals; (4) between hot spots, low levels of recombination occur fairly evenly across 100-kb segments, suggesting the presence of warm spots of recombination; and (5) specific sequence motifs associate significantly with recombination distribution. These data provide a plausible model for recombination patterns of the human genome overall.

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