title: Meiotic recombination hot spots and human DNA diversity.
abstract: Meiotic recombination plays a key role in the maintenance of sequence diversity in the human genome. However, little is known about the fine-scale distribution and processes of recombination in human chromosomes, or how these impact on patterns of human diversity. We have therefore developed sperm typing systems that allow human recombination to be analysed at very high resolution. The emerging picture is that human crossovers are far from randomly distributed but instead are targeted into very narrow hot spots that can profoundly influence patterns of haplotype diversity in the human genome. These hot spots provide fundamental information on processes of human crossover and gene conversion, as well as evidence that they can violate basic rules of Mendelian inheritance.
authors.affiliation: Department of Genetics, University of Leicester, Leicester LE1 7RH, UK. ajj@le.ac.uk
authors.forename: Alec J
authors.initials: AJ
authors.lastname: Jeffreys
authors.forename: J Kim
authors.initials: JK
authors.lastname: Holloway
authors.forename: Liisa
authors.initials: L
authors.lastname: Kauppi
authors.forename: Celia A
authors.initials: CA
authors.lastname: May
authors.forename: Rita
authors.initials: R
authors.lastname: Neumann
authors.forename: M Timothy
authors.initials: MT
authors.lastname: Slingsby
authors.forename: Adam J
authors.initials: AJ
authors.lastname: Webb
mesh_terms: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D003434:Crossing Over, Genetic / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000378:metabolism*; D005802:Genes, MHC Class II / Q000235:genetics; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D016013:Likelihood Functions; D015810:Linkage Disequilibrium; D008297:Male; D008540:Meiosis / Q000235:genetics*; D018598:Minisatellite Repeats / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012730:Sex Chromosomes / Q000235:genetics; D013094:Spermatozoa / Q000737:chemistry
chemical_list: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; C071692:TAP2 protein, human; D004247:DNA