Meiotic recombination hot spots and human DNA diversity.
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.
Jeffreys
Alec J
AJ
Department of Genetics, University of Leicester, Leicester LE1 7RH, UK. ajj@le.ac.uk
Holloway
J Kim
JK
Kauppi
Liisa
L
May
Celia A
CA
Neumann
Rita
R
Slingsby
M Timothy
MT
Webb
Adam J
AJ
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
D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; C071692:TAP2 protein, human; D004247:DNA